Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Phkb MGI:97578

Gene Summary

Name:

phosphorylase kinase beta

Synonyms:

N/A

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	Allele	Zyg	Life Stage	P Value
increased circulating aspartate transaminase level	Phkb^em1(IMPC)J	HOM	Late adult	3.84×10^-08
increased circulating alanine transaminase level	Phkb^em1(IMPC)J	HOM	Late adult	6.27×10^-08
decreased lean body mass	Phkb^em1(IMPC)J	HET	Early adult	5.60×10^-05
preweaning lethality, incomplete penetrance	Phkb^em1(IMPC)J	HOM	Early adult	0.00
increased total body fat amount	Phkb^em1(IMPC)J	HET	Early adult	2.24×10^-06
limb grasping	Phkb^em1(IMPC)J	HET	Late adult	6.70×10^-05
abnormal lens morphology	Phkb^em1(IMPC)J	HET	Late adult	9.63×10^-05
increased circulating alkaline phosphatase level	Phkb^em1(IMPC)J	HOM	Late adult	4.62×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

Eye Morphology

Images Ophthalmoscopy

20 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Forepaw

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

MicroCT E18.5

Embryo reconstruction

9 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Electrocardiogram (ECG)

Waveform Image

25 Images

View images

Human diseases caused by Phkb 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 Phkb (2 diseases)
Human diseases predicted to be associated with Phkb (637 diseases)

The table below shows human diseases associated to Phkb by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Glycogen Storage Disease Ixb		Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu...	OMIM:261750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency		Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240

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

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu...	OMIM:261750
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi...	OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi...	OMIM:612526
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ...	OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Splenomeg...	ORPHA:79083
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ...	ORPHA:280356
Lipase Deficiency, Combined	Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia	OMIM:246650
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert...	OMIM:613877
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl...	ORPHA:71529
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Dystonia, Tremor, Hypertriglyceridemia	OMIM:615924
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Burkitt Lymphoma	Increased circulating lactate dehydrogenase concentration, Abnormality of the spleen, Abnormality...	ORPHA:543
Galactosemia Iv	Hepatomegaly, Cataract, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Limb dystonia, Hepatic steatosis...	ORPHA:363400
Glycogen Storage Disease V	Failure to elevate lactate upon ischemic exercise test, Reduced muscle glycogen phosphorylase act...	OMIM:232600
Multiple Symmetric Lipomatosis	Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance	ORPHA:2398
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Splenomegaly, D...	OMIM:607616
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st...	ORPHA:79085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L...	OMIM:615381
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck...	ORPHA:435660
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi...	OMIM:232200
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Morgagni-Stewart-Morel Syndrome	Obesity, Action tremor, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus	ORPHA:77296
Trichomegaly	Cataract	OMIM:190330
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, ...	OMIM:615238
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Hereditary Fructose Intolerance	Cataract, Hypermagnesemia, Reduced circulating aldolase concentration, Reactive hypoglycemia, Hyp...	ORPHA:469
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Large for gestational age, Increased hepatic glycogen content, Nonketot...	ORPHA:293964
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Dystonia, Failure to thrive, Hypoglycemia	ORPHA:67046
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Fish-Eye Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip...	OMIM:232400
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced hepatic glucose-6-...	OMIM:232220
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss...	ORPHA:435651
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Increased adipose t...	OMIM:151660
Galactokinase Deficiency	Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Hypoglycemia, Hepatospl...	ORPHA:79237
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ...	ORPHA:2088
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In...	ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia,...	OMIM:603552
Galactose Mutarotase Deficiency	Cataract, Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme c...	ORPHA:570422
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Propionic Acidemia	Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia	ORPHA:35
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, H...	OMIM:227810
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cultured fibrobl...	OMIM:246450
Congenital Generalized Lipodystrophy	Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, ...	ORPHA:528
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu...	ORPHA:324575
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Splenomegaly, Hepatic steatosis, Lipodystrophy, Pancreatitis, Los...	ORPHA:2348
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly	ORPHA:134
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec...	OMIM:203800
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased lecithin cholesterol acyl transferase level, Corneal arcus, Hypertriglyceridemia, Decre...	OMIM:245900
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:619048
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, ...	OMIM:617872
Hemochromatosis, Type 4	Cataract, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, C...	OMIM:606069
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Failure to thr...	OMIM:229600
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Hyperammonemia, ...	ORPHA:20
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:620357
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Dysbetalipoproteinemia	Acute pancreatitis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	ORPHA:412
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Di...	OMIM:613845
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Hyperuricemia	OMIM:308950
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Abnormal circulating enzyme ...	ORPHA:79259
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Glycogen Storage Disease Ic	Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, H...	OMIM:232240
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hepatitis, Hypoglycemia, Failure to thrive, Hyperuricemia, Hyponatremia...	ORPHA:199299
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine...	OMIM:616516
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Galactosemia Iii	Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, H...	OMIM:230350
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276575
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Pyruvate Carboxylase Deficiency	Hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Hepatomegaly, Athetosis	OMIM:266150
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ...	ORPHA:276556
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve...	OMIM:137920
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Hypoglycemia	OMIM:262400
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I...	OMIM:618620
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276580
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microcornea, Large for gestational age, Corneal opacity	ORPHA:2432
Gaisböck Syndrome	Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem...	ORPHA:90041
Temple Syndrome	Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly...	OMIM:616222
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Cataract 47	Cataract, Microcornea	OMIM:612018
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Cataract	OMIM:614876
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient...	ORPHA:156
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Seckel Syndrome 10	Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl...	OMIM:617253
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Increased adipose tissue around the neck, Decreased HDL cholesterol concentra...	ORPHA:280365
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:158057
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti...	ORPHA:263455
Werner Syndrome	Cataract, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala...	OMIM:277700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration	OMIM:613101
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H...	OMIM:613327
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr...	ORPHA:890
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ...	ORPHA:158061
Galactosemia I	Increased level of galactitol in red blood cells, Cataract, Failure to thrive, Decreased liver fu...	OMIM:230400
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Lesch-Nyhan Syndrome	Hyperuricemia	ORPHA:510
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr...	OMIM:615558
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Hepa...	OMIM:608594
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity	ORPHA:1980
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Wilson Disease	Hypouricemia, Kayser-Fleischer ring, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, He...	OMIM:277900
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Lipodys...	OMIM:617591
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate...	OMIM:212140
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes...	OMIM:615812
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	ORPHA:42
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hepatic failure, Splenomegaly, Hypoglycemia	ORPHA:664
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Failure to thrive, Hypoglycemia, Decreased liver function	ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hep...	OMIM:619386
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:617950
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Galactose Epimerase Deficiency	Cataract, Splenomegaly, Weight loss, Hepatomegaly, Jaundice	ORPHA:79238
Combined Malonic And Methylmalonic Acidemia	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Dicarbo...	ORPHA:289504
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu...	OMIM:618549
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr...	OMIM:617049
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase, Hand tremor	OMIM:604484
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:3222
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Type...	OMIM:269700
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia	OMIM:613092
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Distal 16P11.2 Microdeletion Syndrome	Obesity, Hyperuricemia	ORPHA:261222
Wolman Disease	Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H...	OMIM:620151
Cockayne Syndrome	Lentiglobus, Cataract, Elevated circulating hepatic transaminase concentration, Band keratopathy,...	ORPHA:191
Combined Oxidative Phosphorylation Deficiency 47	Cataract, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemi...	OMIM:618958
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri...	OMIM:619418
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Acute Adrenal Insufficiency	Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol leve...	ORPHA:95409
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Dystonia, Splenomegaly	ORPHA:139406
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:94093
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat...	ORPHA:79319
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Abnormal circulating leucine concentration, Hyperammonemia, Hypogly...	ORPHA:6
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Failure to thrive, Hyperuricemia, Elevated circulating alkaline phosphatase co...	OMIM:239000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr...	OMIM:603553
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Intention tremor	OMIM:610539
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:66628
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Classic Galactosemia	Cataract, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia,...	ORPHA:79239
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Cataract, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevate...	OMIM:618805
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:614727
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp...	OMIM:616483
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Reduced peroxi...	OMIM:231670
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:179494
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia	ORPHA:411536
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Addison Disease	Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased...	ORPHA:85138
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Failure to thrive, Hypoglycemia, Elevated circulating aspartate amin...	OMIM:620609
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Panniculitis, Splenomegaly, Increased circulating ferritin concentration	OMIM:618398
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating creatine k...	OMIM:500009
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Leber Congenital Amaurosis 1	Hepatomegaly, Keratoconus, Hyperthreoninemia, Cataract	OMIM:204000
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Dystonia, Hyperuricemia	ORPHA:79233
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Reduced 3-methylcrotonyl CoA carboxylas...	OMIM:210200
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia	OMIM:617575
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Tremor, Hepatomegaly	OMIM:616719
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract, Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine ...	ORPHA:369840
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia, Hypoglycemia	OMIM:620137
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia	ORPHA:411543
Peroxisome Biogenesis Disorder 7A (Zellweger)	Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con...	OMIM:614872
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Dystonia...	OMIM:614702
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Glycosylphosphatidylinositol Biosynthesis Defect 17	Abnormality of alkaline phosphatase level, Hypertriglyceridemia	OMIM:618010
Molybdenum Cofactor Deficiency, Type C	Hypouricemia, Sulfite oxidase deficiency, Hypocystinemia, Molybdenum cofactor deficiency, Hyperta...	OMIM:615501
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi...	OMIM:602579
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:613280
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega...	OMIM:619064
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Griscelli Syndrome Type 2	Iris hypopigmentation, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79477
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Failure to thrive	ORPHA:28
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
H Syndrome	Hepatosplenomegaly, Hernia, Lipodystrophy, Hypertriglyceridemia, Camptodactyly, Corneal arcus, En...	ORPHA:168569
Propionic Acidemia	Failure to thrive, Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Hyperammo...	OMIM:606054
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:157
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Cataract, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, D...	OMIM:606721
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Lesch-Nyhan Syndrome	Opisthotonus, Dystonia, Choreoathetosis, Hyperuricemia	OMIM:300322
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Cataract, Type I diabetes mellitus, Failure to thrive	ORPHA:251009
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi...	ORPHA:3191
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Ectopia lentis, Sulfite oxidase deficiency, Aldehyde oxidase deficiency, Reduced xa...	OMIM:252150
Xanthinuria, Type I	Hypouricemia, Reduced circulating xanthine oxidase activity, Hyperxanthinemia, Reduced xanthine d...	OMIM:278300
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Hyperxanthinemia	OMIM:603592
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Hype...	ORPHA:94086
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Cataract, Joint contracture, Elevated circulating creatine kinase concentration	OMIM:615704
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s...	ORPHA:98855
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:248370
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele...	ORPHA:254864
Mody	Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc...	ORPHA:552
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level	OMIM:619406
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Congenital Rubella Syndrome	Cataract, Type I diabetes mellitus, Splenomegaly, Aplasia/Hypoplasia of the iris, Corneal opacity...	ORPHA:290
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Failure to thrive, Splenomegaly, Tremor, Increased circulating inosine concentratio...	OMIM:613179
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Elevated circulating propionylcarnitin...	OMIM:251110
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Sialidosis Type 2	Umbilical hernia, Ascites, Splenomegaly, Tremor, Inguinal hernia, Corneal opacity, Hepatomegaly, ...	ORPHA:87876
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Alg2-Cdg	Hepatomegaly, Cataract, Abnormal circulating enzyme concentration or activity, Iris coloboma	ORPHA:79326
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Abnormal circulating lipid concentration, Reduced subcutaneous adipose ...	ORPHA:1979
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Recurrent hypoglycemia, Cholestasis, Acute hepatic fail...	OMIM:256810
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Acth Deficiency, Isolated	Cholestasis, Jaundice, Fasting hypoglycemia, Decreased circulating cortisol level	OMIM:201400
X-Linked Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s...	ORPHA:98863
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Pancreatitis, Hepatomegaly, Dystonia, Choreoathe...	ORPHA:79312
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased HDL cholest...	OMIM:256040
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s...	ORPHA:98853
Hereditary Xanthinuria	Hypouricemia, Sulfite oxidase deficiency, Aldehyde oxidase deficiency, Reduced xanthine dehydroge...	ORPHA:3467
Juvenile Nephropathic Cystinosis	Hypouricemia, Abnormal cornea morphology, Corneal crystals, Glycosuria, Failure to thrive, Elevat...	ORPHA:411634
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n...	ORPHA:199296
Immunodeficiency 97 With Autoinflammation	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:619802
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat...	OMIM:615630
Gaucher Disease Type 2	Hepatomegaly, Dystonia, Flexion contracture, Splenomegaly	ORPHA:77260
Smith-Magenis Syndrome	Increased body weight, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans...	ORPHA:1667
Glycerol Kinase Deficiency	Hypoglycemia, Chronic pancreatitis, Hypertriglyceridemia, Hyperglycerolemia, Small for gestationa...	OMIM:307030
Gm1-Gangliosidosis, Type Iii	Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Dystonia, Opacification of the...	OMIM:230650
Cystinuria	Hyperuricemia	ORPHA:214
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Alagille Syndrome 1	Cataract, Hepatic failure, Elevated circulating hepatic transaminase concentration, Microcornea, ...	OMIM:118450
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Corneal opacity	ORPHA:79292
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Kennedy Disease	Type II diabetes mellitus, Abnormal circulating lipid concentration	ORPHA:481
Phosphoribosylpyrophosphate Synthetase Superactivity	Increased phosphoribosylpyrophosphate synthetase level, Small for gestational age, Hyperuricemia	OMIM:300661
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi...	OMIM:211600
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Alpha-Mannosidosis	Cataract, Type II diabetes mellitus, Splenomegaly, Inguinal hernia, Corneal opacity, Hepatomegaly	ORPHA:61
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:5
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Fail...	OMIM:222748
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ...	OMIM:619355
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h...	OMIM:615453
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine k...	OMIM:618838
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ...	OMIM:248600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Pancreatitis, Hepatomegaly, Dystonia, Choreoathetosis	ORPHA:289916
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Alpha-Heavy Chain Disease	Ascites, Hepatomegaly, Splenomegaly, Hypocalcemia	ORPHA:100025
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate...	OMIM:614887
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Met...	OMIM:251000
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th...	OMIM:248250
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:158048
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio...	ORPHA:79332
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Ectopia lentis, Opisthotonus, Molybdenum cofactor deficiency, Lens luxation	OMIM:252160
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Aredyld Syndrome	Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg...	ORPHA:1133
Smith-Magenis Syndrome	Microcornea, Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Failure to thrive, Hyperammonemia, Hyperglu...	OMIM:215700
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,...	OMIM:277460
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension, Splenomegaly, C...	ORPHA:465508
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, ...	OMIM:238970
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin...	OMIM:618835
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol...	OMIM:619127
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin...	OMIM:618839
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome...	OMIM:618892
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue	ORPHA:199276
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Failur...	ORPHA:905
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur...	ORPHA:367
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:26791
Infantile Refsum Disease	Hepatomegaly, Cataract, Failure to thrive, Elevated circulating phytanic acid concentration	ORPHA:772
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Ascites, Elevated circula...	OMIM:619573
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Methanol Poisoning	Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus	ORPHA:31825
Stiff Skin Syndrome	Lipoatrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration	ORPHA:2833
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ...	OMIM:613095
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Widened atrophic scar, Umbilical hernia, Astigmatism, Inguinal hernia, Ventral hernia...	ORPHA:536532
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Focal Segmental Glomerulosclerosis 1	Ascites, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev...	OMIM:620300
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormal circulating enzyme concentration or activity, Hyperlipidemia, Splenomegaly, Elevated cir...	ORPHA:565612
Heme Oxygenase 1 Deficiency	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:614034
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Pseudo-Torch Syndrome 1	Cataract, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased l...	OMIM:251290
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom...	OMIM:266510
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltra...	ORPHA:186
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Hypophosphatemic rickets, Neoplasm of the live...	ORPHA:2126
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Ab...	ORPHA:231222
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia	OMIM:229700
Griscelli Syndrome Type 1	Iris hypopigmentation, Hyperlipidemia	ORPHA:79476
Chédiak-Higashi Syndrome	Iris hypopigmentation, Elevated circulating hepatic transaminase concentration, Increased circula...	ORPHA:167
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Elevated circulating c...	OMIM:608104
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Increased circulating thyroglobulin concentra...	OMIM:610199
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Failure to thrive, Hypoglycemia, Propionyl-CoA car...	OMIM:210210
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steat...	OMIM:612714
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alope...	ORPHA:59303
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Trem...	ORPHA:3008
Hurler-Scheie Syndrome	Hepatomegaly, Hernia, Splenomegaly, Corneal opacity	ORPHA:93476
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Cachexia, Hepatomegaly, Steatorrhea	ORPHA:75233
Griscelli Syndrome	Iris hypopigmentation, Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly...	ORPHA:381
Gaucher Disease, Type Iii	Hepatomegaly, Decreased beta-glucocerebrosidase level, Splenomegaly, Decreased body weight	OMIM:231000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Hyperlipidemia, He...	ORPHA:189427
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph...	ORPHA:3337
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp...	OMIM:614921
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat...	OMIM:276700
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Splenome...	OMIM:266200
Transketolase Deficiency	Cataract, Type I diabetes mellitus, Elevated circulating ribitol concentration, Hepatomegaly, Con...	ORPHA:488618
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Failure to thrive, C...	OMIM:615486
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Opisthotonus, Hyperammonemia	OMIM:610678
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Pancreatitis, Choreoathetosis	ORPHA:27
Prader-Willi Syndrome	Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Hyperin...	OMIM:176270
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, Corneal opacity, Hypertrig...	ORPHA:31150
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Failure to thrive, Cirrhosis, Chronic hepatitis, Hepato...	OMIM:614602
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	OMIM:614736
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Abnormality of the liver,...	ORPHA:97214
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Elevated circulating long chain fatty acid concentration, Joint contracture of the hand...	OMIM:214110
Microtriplication 11Q24.1	Keratoconus, Obesity, Hyperlipidemia	ORPHA:289522
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J...	ORPHA:294
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo...	ORPHA:507
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia, Abnormal erythrocyte enzyme concentration or activity	ORPHA:1187
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Elevated circulating creatinine concentration, Inguinal hernia	OMIM:614376
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Abnormal circulating lipid concentration...	ORPHA:206572
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Cataract, Nuclear cataract, Splenomegaly, Hepatomegaly,...	OMIM:608885
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia	ORPHA:363618
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Atypical Werner Syndrome	Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Fai...	ORPHA:79474
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Gaucher Disease Type 1	Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Increased ...	ORPHA:77259
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:615595
Argininosuccinic Aciduria	Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio...	OMIM:207900
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Aromatase Deficiency	Insulin resistance, Obesity, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Eunuch...	ORPHA:91
Beta-Thalassemia	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis	ORPHA:848
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Immunodeficiency 10	Hypoglycemia, Hypoplasia of the iris, Splenomegaly, Amelogenesis imperfecta, Hepatomegaly	OMIM:612783
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Cataract, Elevated circulating hepatic transaminase concent...	ORPHA:110
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Subc...	ORPHA:97283
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hepatomeg...	OMIM:207800
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a...	OMIM:614866
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Splenomegaly, Tremor, Low alkaline phosphatase, Decreased serum zinc, Hepatome...	OMIM:201100
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Conjunctival icterus, Ascites, Car...	ORPHA:57777
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Subc...	ORPHA:97282
Mast Cell Sarcoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:66661
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia,...	OMIM:311250
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia, Developmental cataract	OMIM:618810
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Dy...	OMIM:614924
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Anemia, Congenital Dyserythropoietic, Type Ia	Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Splenomegaly, Prol...	OMIM:224120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Conjunctival icterus, Hepatitis, Increased circulating ferritin concentration, Sp...	OMIM:194380
Glycogen Storage Disease Xii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch...	OMIM:611881
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu...	OMIM:557000
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hyperglycinemia, Hyperammonemia, ...	OMIM:251100
Alopecia Universalis	Type I diabetes mellitus, Abnormal circulating lipid concentration	ORPHA:701
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Cataract, Flexion contracture, Hyperlipidemia	ORPHA:90153
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Corneal neovascularization, Splenomegaly, Punctate keratitis, Keratoconjunctiv...	OMIM:617388
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Isolated Complex I Deficiency	Failure to thrive, Hypoglycemia, Hepatomegaly, Increased serum pyruvate, Diabetes mellitus	ORPHA:2609
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ...	OMIM:615234
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Decreased liver function, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:608779
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Developmental cataract, Hepatome...	OMIM:619273
Fucosidosis	Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Corneal opacity, Hepatomegaly, L...	ORPHA:349
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia	ORPHA:760
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Obesity, Astigmatism, Low alkaline phosphatase, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Splenomeg...	ORPHA:457077
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Calcinosis	ORPHA:90154
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Astigmatism, Elevated circulating creati...	OMIM:617713
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Subcapsular cataract	OMIM:275630
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:14
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Pearson Syndrome	Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic spleen, Cataract, Abnormality of t...	ORPHA:699
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:616689
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:185000
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Failure to thrive in infancy, Hepatosplenomega...	ORPHA:231214
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Increased iduronate sulfatase level, Inguinal hernia, Hepato...	OMIM:252600
19P13.12 Microdeletion Syndrome	Arthrogryposis multiplex congenita, Obesity, Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancre...	OMIM:616263
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Decre...	OMIM:277380
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Subc...	ORPHA:97280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Tremor, Ele...	OMIM:615356
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil...	OMIM:613471
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Biotinidase Deficiency	Hyperammonemia, Splenomegaly, Decreased circulating biotinidase concentration, Hepatomegaly, Conj...	OMIM:253260
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Jaundice, Hy...	ORPHA:90790
Wiedemann-Rautenstrauch Syndrome	Cataract, Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of fing...	ORPHA:3455
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Abnorma...	ORPHA:17
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Abnormal circulatin...	ORPHA:308552
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Hyperinsul...	ORPHA:508
Niemann-Pick Disease, Type C1	Fetal ascites, Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Low cho...	OMIM:257220
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly	ORPHA:85414
Proteasome-Associated Autoinflammatory Syndrome 4	Generalized lipodystrophy, Splenomegaly, Hepatomegaly, Flexion contracture, Panniculitis	OMIM:619183
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Cataract, Abnormal circulating lipid concentration, Inguinal hernia, Truncal ...	OMIM:616541
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Iv	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hyperbilirubinemia...	OMIM:613673
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97278
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cho...	OMIM:615895
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Panniculitis, Splenomegaly	ORPHA:33577
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decre...	ORPHA:425
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia	OMIM:233600
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Porphyria, Congenital Erythropoietic	Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Conjunctivitis, Elevate...	OMIM:263700
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Subcutaneous lipoma, Insulinoma, Pancreatic i...	OMIM:131100
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Type I diabetes mellitus, Splenomegaly	OMIM:301078
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatosplenome...	OMIM:615688
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes ...	ORPHA:64
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Hyperlipidemia, Pancreatitis, Corneal opacity, Small for gestational age	ORPHA:1830
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi...	OMIM:301068
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97261
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Conjunctivitis, Failure to thrive, Ch...	OMIM:620376
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria	OMIM:601539
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Corneal crystals, Glycosuria, Failure to thrive, H...	OMIM:219800
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Elevated circulating hepatic ...	OMIM:619525
Wiedemann-Rautenstrauch Syndrome	Cataract, Failure to thrive, Absence of subcutaneous fat, Intention tremor, Reduced subcutaneous ...	OMIM:264090
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Omenn Syndrome	Hepatomegaly, Hypoproteinemia, Splenomegaly, Failure to thrive	OMIM:603554
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Histiocytoid Cardiomyopathy	Failure to thrive, Hypoglycemia, Megalocornea, Congenital aphakia, Cardiomegaly, Corneal opacity,...	ORPHA:137675
Woodhouse-Sakati Syndrome	Hyperlipidemia, Dystonia, Diabetes mellitus, Choreoathetosis	OMIM:241080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Woodhouse-Sakati Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperlipidemia, Dystonia, Choreoathetosis	ORPHA:3464
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Cellulitis, Splenomegaly, Hepatomegaly, Decreased activity of NADPH oxidase, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Cellulitis, Splenomegaly, Hepatomegaly, Decreased activity of NADPH oxidase, Liver abscess	OMIM:233710
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated circulating hepatic transaminase concentration, Hyperglycemia, Obesity, Hyperlipidemia, ...	ORPHA:293987
Fabry Disease	Cataract, Abnormal circulating lipid concentration, Hyperlipidemia, Conjunctival telangiectasia, ...	ORPHA:324
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomegaly, Hepatoblastoma, Omphalocele, Hepatomegaly, Neonatal hypogly...	OMIM:130650
Cystic Fibrosis	Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirr...	OMIM:219700
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l...	OMIM:243800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Ascites, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665

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 Phkb

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 Phkb.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.	International journal of molecular sciences (September 2022)	Phkb^em1(IMPC)J	PMC9456097

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
Phkb^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Phkb^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Phkb^em1(IMPC)J	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Phkb MGI:97578

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

X-ray

X-ray

MicroCT E18.5

X-ray

X-ray

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Phkb mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data