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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
abnormal lens morphology	Phkb^em1(IMPC)J	HET	Late adult	5.59×10^-06
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

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

20 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

25 Images

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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		Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency		Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240

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

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
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
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Cataract 44	Developmental cataract	OMIM:616509
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod...	OMIM:612526
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Trichomegaly	Cataract	OMIM:190330
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit...	ORPHA:79083
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Hyperuricemia, ...	ORPHA:543
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin r...	ORPHA:79085
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric...	OMIM:232200
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-...	OMIM:278000
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Galactosemia Iv	Cataract	OMIM:618881
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Incr...	OMIM:615238
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Hereditary Fructose Intolerance	Hepatomegaly, Cataract, Reduced circulating aldolase concentration, Reactive hypoglycemia, Jaundi...	ORPHA:469
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Cataract 47	Microcornea, Cataract	OMIM:612018
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Decreased HDL cho...	OMIM:151660
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Diabetes mellitus, Hyperuricemia, Obesity	ORPHA:77296
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Hypoglycemia, Smal...	ORPHA:79237
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Glycogen Storage Disease Vii	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c...	OMIM:232800
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Cholestasis, Decre...	ORPHA:570422
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insuli...	ORPHA:528
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Neonatal Hemochromatosis	Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase...	ORPHA:446
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit...	ORPHA:2348
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Decreased lecithin ...	OMIM:245900
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity	OMIM:617885
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc...	OMIM:619048
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia	ORPHA:134
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferr...	OMIM:606069
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Increased serum pyruvate, Hypoglycemia, Small for gestational age,...	OMIM:615160
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat...	OMIM:229600
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Inc...	OMIM:617872
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic...	ORPHA:20
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	ORPHA:412
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Hypogl...	ORPHA:79259
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa...	OMIM:613845
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, He...	ORPHA:199299
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep...	OMIM:232240
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F...	OMIM:230350
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li...	OMIM:246900
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha...	ORPHA:2394
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc...	ORPHA:90041
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Large for gestational age	ORPHA:2432
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Jaundice, Hyperlipidemia, Hepatosple...	ORPHA:444490
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic...	OMIM:619013
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Werner Syndrome	Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate aminotran...	OMIM:277700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly	OMIM:613101
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati...	ORPHA:280365
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A...	ORPHA:93111
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas...	OMIM:261680
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity	ORPHA:1980
3-Methylglutaconic Aciduria Type 4	Cataract, Hypoglycemia, Decreased liver function, Failure to thrive, Iris hypopigmentation	ORPHA:67048
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:616860
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:617049
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss	ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Lesch-Nyhan Syndrome	Hyperuricemia	ORPHA:510
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619386
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia	OMIM:266150
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Galactosemia I	Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration, Elevated c...	OMIM:230400
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ...	ORPHA:71
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Cataract, Hypoglycemia, Failure to thrive	OMIM:618958
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:3222
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia	OMIM:613092
Glycogen Storage Disease V	Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We...	ORPHA:95409
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia, Obesity	ORPHA:261222
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo...	ORPHA:6
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa...	OMIM:617093
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan...	ORPHA:98908
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Hydroxyprolinemia, Elevated circulating alkaline phosphatase concentration, Hyperph...	OMIM:239000
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Failure to thrive in infancy, Elevated circulating alanine aminotransfera...	OMIM:618805
Obesity Due To Congenital Leptin Deficiency	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity	ORPHA:66628
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja...	OMIM:603553
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Cataract, Diabe...	ORPHA:191
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:540
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Obesity Due To Leptin Receptor Gene Deficiency	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity	ORPHA:179494
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Failu...	ORPHA:289504
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Hypertriglyceridemia, Panniculitis, Increased circulating ferritin concentration	OMIM:618398
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We...	ORPHA:85138
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Elevated circulating creatine kinase concentration, ...	ORPHA:94093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Maternally-Inherited Diabetes And Deafness	Abnormal circulating lipid concentration, Cataract, Type II diabetes mellitus	ORPHA:225
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Abnormality of the pancreas	ORPHA:2924
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia	ORPHA:411536
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyper...	OMIM:602579
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Cataract, Elevated circulating hexacosanoic acid concentration, Jaundice, Elevated ...	OMIM:614872
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat...	ORPHA:79644
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Hyperthreoninemia	OMIM:204000
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly	OMIM:610539
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Hepatosplenomegaly, Corneal arcus, Hernia...	ORPHA:168569
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat...	ORPHA:3191
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin...	ORPHA:94086
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Failure to thrive, Elevated circulating creatine kinase c...	OMIM:500009
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia	ORPHA:411543
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Hepatomegaly, Failure to thrive, Cataract	ORPHA:251009
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy...	ORPHA:159
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,...	ORPHA:470
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Hyperammonemia	ORPHA:28
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro...	OMIM:619064
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio...	OMIM:201475
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, ...	ORPHA:290
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, Macro...	OMIM:608836
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Joint contracture, Cataract, Elevated circulating creatine kinase concentration	OMIM:615704
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Hypertaurinemia, Hypocy...	OMIM:615501
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Griscelli Syndrome Type 2	Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Iris hypopigmentation	ORPHA:79477
Alg2-Cdg	Hepatomegaly, Cataract, Iris coloboma, Abnormal circulating enzyme concentration or activity	ORPHA:79326
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Cataract 24	Anterior polar cataract	OMIM:601202
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W...	ORPHA:1979
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Decreased circulating cortisol level, Cholestasis	OMIM:201400
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly...	OMIM:256040
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:619802
Xanthinuria, Type Ii	Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia	OMIM:603592
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure...	ORPHA:199296
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli...	ORPHA:1667
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Cataract, Hypertriglyceridemia, Band keratopath...	OMIM:118450
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Juvenile Nephropathic Cystinosis	Hyponatremia, Elevated alkaline phosphatase of bone origin, Hypouricemia, Elevated circulating cr...	ORPHA:411634
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Propionyl-CoA carboxylase deficiency...	OMIM:606054
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t...	OMIM:251000
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Hyperammonemia, Hyperal...	OMIM:614702
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Hereditary Xanthinuria	Reduced xanthine dehydrogenase level, Hypouricemia, Sulfite oxidase deficiency, Hyperxanthinemia,...	ORPHA:3467
Kennedy Disease	Abnormal circulating lipid concentration, Type II diabetes mellitus	ORPHA:481
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Alpha-Mannosidosis	Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Splenomegaly, Type II diabetes mellitus	ORPHA:61
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:158048
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog...	OMIM:256810
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Familial Cervical Artery Dissection	Diabetes mellitus, Abnormal circulating lipid concentration, Abnormality of connective tissue	ORPHA:36382
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea...	OMIM:307030
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Hypouricemia, Ectopia lenti...	OMIM:252150
Cystinuria	Hyperuricemia	ORPHA:214
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin...	OMIM:613489
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Failure to thrive, Inc...	OMIM:613179
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia, Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circulati...	OMIM:231670
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia...	OMIM:615453
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Ascites, Hypocalcemia	ORPHA:100025
Phosphoribosylpyrophosphate Synthetase Superactivity	Small for gestational age, Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia	OMIM:300661
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Splenomeg...	ORPHA:465508
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ...	OMIM:619355
Hypomagnesemia 3, Renal	Failure to thrive, Astigmatism, Hyperuricemia, Hypomagnesemia	OMIM:248250
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia...	ORPHA:1133
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Elevated circulatin...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Elevated circulatin...	OMIM:618839
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79332
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Microcornea, Hypercholesterolemia	ORPHA:819
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont...	ORPHA:367
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Developmental cataract, Glycosuria, Elevated circulating gl...	OMIM:231680
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Heme Oxygenase 1 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614034
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Infantile Refsum Disease	Hepatomegaly, Failure to thrive, Cataract, Elevated circulating phytanic acid concentration	ORPHA:772
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia	OMIM:619313
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Beta-Thalassemia Intermedia	Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenome...	ORPHA:231222
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:620300
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H...	OMIM:266510
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ...	ORPHA:536532
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Harderoporphyria	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun...	OMIM:618892
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Cataract, Abnormal circulating creatine kinase conce...	ORPHA:369840
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Stiff Skin Syndrome	Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus	ORPHA:2833
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea...	OMIM:618329
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Splenomegaly, Jaundice, Hepatitis, Ascite...	ORPHA:381
Lesch-Nyhan Syndrome	Hyperuricemia	OMIM:300322
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca...	ORPHA:59303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Failure to thrive, Pancreatitis	ORPHA:79312
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemi...	OMIM:276700
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular ...	ORPHA:31150
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Decreased beta-glucocerebrosidase level, Decreased body weight	OMIM:231000
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated ...	ORPHA:565612
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi...	OMIM:612714
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia	OMIM:603278
Wolman Disease	Hepatomegaly, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failure	ORPHA:75233
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity, Hernia	ORPHA:93476
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi...	ORPHA:3337
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Cholestasis, Hypo...	OMIM:608104
Molybdenum Cofactor Deficiency, Complementation Group B	Ectopia lentis, Hypouricemia, Molybdenum cofactor deficiency, Lens luxation	OMIM:252160
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:167
Griscelli Syndrome Type 1	Hyperlipidemia, Iris hypopigmentation	ORPHA:79476
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Fail...	OMIM:614602
Maple Syrup Urine Disease	Hypoglycemia, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevate...	OMIM:248600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive	OMIM:614736
Transketolase Deficiency	Hepatomegaly, Cataract, Conjunctivitis, Type I diabetes mellitus, Elevated circulating ribitol co...	ORPHA:488618
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco...	OMIM:266200
Overlap Myositis	Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat...	ORPHA:206572
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Joint contra...	OMIM:214110
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia	ORPHA:507
Eisenmenger Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abnormality of the liver, Ab...	ORPHA:97214
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio...	ORPHA:829
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Atypical Werner Syndrome	Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Insulin-resistant diabet...	ORPHA:79474
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy	ORPHA:363618
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu...	OMIM:251290
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau...	ORPHA:186
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis	ORPHA:848
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Cataract, Elevated circulating creatinine concentration	OMIM:614376
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97283
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Lethal Ataxia With Deafness And Optic Atrophy	Abnormal erythrocyte enzyme level, Hypouricemia	ORPHA:1187
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:615234
Microtriplication 11Q24.1	Keratoconus, Hyperlipidemia, Obesity	ORPHA:289522
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia, Nucl...	OMIM:608885
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, Elevated a...	ORPHA:171
Aromatase Deficiency	Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Insulin resistance, Obesity, Type...	ORPHA:91
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased circulating ferritin concen...	OMIM:194380
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Hepatomegaly, Failure to thrive	OMIM:560000
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Keratoconjunct...	OMIM:617388
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97282
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Ascites	OMIM:618183
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Propionyl-CoA carboxylase de...	OMIM:210210
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia, Developmental cataract	OMIM:618810
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Increased circulating galectin-3 lev...	ORPHA:57777
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Cataract, Hypoglycemia, Cholangitis, Microvesicu...	OMIM:124000
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Failur...	ORPHA:3008
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:608779
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Obesity, Low alkaline phosphatase, Astigmatism	ORPHA:369837
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Small for gestational age, Reduced level of N-acetylglucosaminyltransferase II, Spl...	OMIM:224120
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Small for gestational age, Elevated circ...	OMIM:614866
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Cataract, Flexion contracture	ORPHA:90153
Fucosidosis	Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure...	ORPHA:349
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251110
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy	ORPHA:90154
Glycogen Storage Disease Xii	Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevated circulating cre...	OMIM:611881
Chanarin-Dorfman Syndrome	Hepatomegaly, Subcapsular cataract, Hepatic steatosis	OMIM:275630
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive	ORPHA:2609
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ...	ORPHA:14
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, ...	OMIM:618440
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Hypokalemia, Glycosuria,...	ORPHA:699
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Beta-Thalassemia Major	Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaund...	ORPHA:231214
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia	ORPHA:760
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia	OMIM:207800
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97280
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration	ORPHA:85414
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Failure...	ORPHA:90790
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Failure to thrive	OMIM:201100
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins...	ORPHA:508
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibros...	OMIM:616263
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Biotinidase Deficiency	Hepatomegaly, Splenomegaly, Hyperammonemia, Conjunctivitis, Decreased circulating biotinidase con...	OMIM:253260
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Hyperammonemia, Hypero...	ORPHA:415
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Cataract, Insulin resistance, Truncal obesity, Abnormal circu...	OMIM:616541
19P13.12 Microdeletion Syndrome	Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis, Obesity	ORPHA:254346
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97278
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis	OMIM:619183
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251100
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Weight loss	ORPHA:33577
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Cataract, Corneal opacity, Hypertriglyceridemia, Slender bui...	ORPHA:3455
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Weight loss, Hyperbilirubinemia, Unconjugated hyp...	OMIM:613673
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice	OMIM:233600
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O...	ORPHA:425
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Hepatomegaly, Type I diabetes mellitus	OMIM:301078
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Insulinoma, Increased circulating cor...	OMIM:131100
Alström Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Port...	ORPHA:64
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97261
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive	OMIM:239200
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of skin, Conjunctivitis...	OMIM:263700
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Corneal opacity, Hyperlipidemia, Failure to thrive, Pancreatitis	ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis	OMIM:601539
Omenn Syndrome	Splenomegaly, Hepatomegaly, Failure to thrive, Hypoproteinemia	OMIM:603554
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ...	OMIM:619991
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Cataract, Small for gestational age, Hypertriglyceridemia, L...	OMIM:264090
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Livedoid Vasculopathy	Diabetes mellitus, Atrophic scars, Abnormal circulating lipid concentration, Hyperhomocystinemia	ORPHA:542643
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Hypoma...	OMIM:219800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Decreased activity of NADPH oxidase, Cellulitis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Decreased activity of NADPH oxidase, Cellulitis	OMIM:233710
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Hepatobla...	OMIM:130650
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia	ORPHA:293987
Johanson-Blizzard Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Small for gestational age, Elevated circulati...	OMIM:243800
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Failure to thrive, P...	OMIM:219700
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Left v...	ORPHA:324
Woodhouse-Sakati Syndrome	Hyperlipidemia, Diabetes mellitus	OMIM:241080
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Ascites, Hypoalbuminemia	ORPHA:567546
Woodhouse-Sakati Syndrome	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia	ORPHA:3464
Williams Syndrome	Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Hypercalcemia, ...	ORPHA:904
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, 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

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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

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Access Data Release 20.1 Data