Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
neuraminidase 2
Synonyms:
cystolic sialidase,  MTS,  brain sialidase,  MSS,  MBS

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Neu2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Neu2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid... OMIM:232700
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hepati... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Chest pain, Obesity, Hypercholesterolemia OMIM:608320
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Confusion, Hepatic ste... OMIM:603471
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration, Obesity, Sh... ORPHA:171706
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyp... OMIM:232400
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Sitosterolemia 2
Tendon xanthomatosis, Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia ORPHA:366
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak... OMIM:618400
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Calf muscle hypertrophy, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa... ORPHA:611
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid concentration, Lower limb... OMIM:615980
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato... OMIM:617872
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Fatigue, Hy... OMIM:306000
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Niemann-Pick Disease, Type B
Mental deterioration, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Mental deterioration, Hypertriglyceridemia OMIM:615924
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Exercise intolerance, Elevated circulating hepatic transaminase concentration, ... ORPHA:79240
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia ORPHA:71529
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Exercise intolerance, Portal fibrosis, Elevated circulating hepatic transaminas... ORPHA:264580
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Abdominal colic, Failure to thrive, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyc... OMIM:603813
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Splenoportal Vascular Anomalies
Hepatic fibrosis, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... OMIM:620085
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... OMIM:605820
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Epigastric pain, Hepatic necrosis, Portal vein thrombosis, Fatigue, Hepatomegal... ORPHA:33402
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Exercise intole... ORPHA:457050
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Sudden cardiac death, Hypertriglyceridemia OMIM:610947
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red musc... OMIM:500002
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Failure to thrive, Ragged-red muscle fibers, Incre... OMIM:500009
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Abdominal colic, Elevated circulatin... ORPHA:69663
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Myopathy, Hepatic steatosis, Failure to thrive ORPHA:26792
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Myopathy, Distal, 5
Rimmed vacuoles, Muscle fiber splitting, Distal amyotrophy, Myopathy, Weakness of facial musculat... OMIM:617030
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Skeletal muscle hypertrophy, Hypertriglyceridemia OMIM:613877
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Skeletal muscle atrophy, Splenomega... OMIM:616719
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Exercise intolerance, Elevated circulating hepatic transaminase concentration, D... OMIM:619013
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Hepatic steatosis, Myopathy, Cirrhosis, Cognitive impairme... ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased plasm... OMIM:619048
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... OMIM:609115
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Exercise intolerance, Obesity, Cognitive impairment OMIM:619058
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Distal lower limb muscle weakness ORPHA:94124
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase OMIM:604454
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... OMIM:619111
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Fail... OMIM:620357
Temple Syndrome
Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Flexion contracture, Overwe... OMIM:616222
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hepatosplenomegaly, Hypercholesterolemia, Increased... ORPHA:79237
Familial Chylomicronemia Syndrome
Memory impairment, Failure to thrive, Increased circulating chylomicron concentration, Hepatosple... ORPHA:444490
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... OMIM:620235
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Generalized limb muscle atrophy, Acute hepatic failure, Hepatosplenomegaly, Dis... ORPHA:466794
Congenital Generalized Lipodystrophy
Macroglossia, Failure to thrive, Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyc... ORPHA:528
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, EMG: myopathi... ORPHA:603
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... OMIM:613812
Dysbetalipoproteinemia
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholest... ORPHA:412
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia OMIM:607250
Pparg-Related Familial Partial Lipodystrophy
Myalgia, Hepatic steatosis, Splenomegaly, Hyperuricemia, Myopathy, Cirrhosis, Pancreatitis, Hyper... ORPHA:79083
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Morgagni-Stewart-Morel Syndrome
Memory impairment, Obesity, Hyperuricemia, Hypercholesterolemia, Cognitive impairment ORPHA:77296
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Mental deterioration, Upper limb muscle weakness, Muscle... ORPHA:309169
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Exer... OMIM:201475
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Exercise intolerance, Hepatic failure, Elevated... ORPHA:228305
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Increased bod... ORPHA:890
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... OMIM:620211
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating aspartate ... OMIM:212140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... OMIM:609524
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Skeletal muscle atrophy, Obesity, Myalgia, Ragged-red muscle fibers, Elevat... OMIM:615418
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Arthralgia, Fatigue, ... OMIM:606069
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Contractures of the large join... ORPHA:2457
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:615424
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... OMIM:300635
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Cognitive impairment, Elevated circulating alpha-... OMIM:616267
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Tangier Disease
Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevat... OMIM:205400
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Generalized limb muscle... ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Limb hypertonia OMIM:615918
Adiposis Dolorosa
Chronic pain, Obesity, Arthralgia, Fatigue OMIM:103200
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi... ORPHA:79319
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hepatomegaly, S... OMIM:602579
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Familial Partial Lipodystrophy, Dunnigan Type
Myalgia, Splenomegaly, Hepatic steatosis, Myopathy, Pancreatitis, Hypertriglyceridemia, Hepatomeg... ORPHA:2348
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Calf muscle hypertrophy, Pancreatitis, Hypertriglyceridemia, Hepatomegaly, Ske... ORPHA:435651
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... OMIM:615486
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... OMIM:619481
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Distal amyotrophy, Elevated circulating creatine kinase co... OMIM:208920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Calf ... OMIM:254110
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Dpm1-Cdg
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Fa... ORPHA:79322
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Fatigue, Hypercholesterolemia, Hypoproteinemia, Small f... ORPHA:86816
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Adenocarcinoma Of The Esophagus
Chest pain, Obesity ORPHA:99976
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:... OMIM:253601
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... OMIM:613327
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Myalgia, Type 1 muscl... OMIM:160500
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in infancy, Cachexia, Weight ... ORPHA:275761
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Hepatic steatos... ORPHA:435660
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Abnormality of the liver, Ragged-red muscle fibers... ORPHA:254864
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hypert... OMIM:618620
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Short attention span, Distal lo... ORPHA:459033
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... OMIM:604367
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... OMIM:618129
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ... OMIM:615381
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hepatic steatosis, EMG: myopathi... ORPHA:52430
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... OMIM:620138
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Che... ORPHA:263494
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ragged-red muscle... ORPHA:298
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration OMIM:613101
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly OMIM:615630
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Failure to thrive OMIM:610768
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Failure to thrive OMIM:619858
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Muscle fiber splitting, Extremely elevated creatine kina... ORPHA:171445
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio OMIM:614662
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis... OMIM:619386
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Hyperuricemia, Hyponatremia, Type 2 muscle fiber atrophy, Incr... OMIM:613845
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis ORPHA:2377
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... ORPHA:270
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... OMIM:615947
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat... OMIM:618805
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Abnormal circulating lipid concentration OMIM:608709
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder girdle ... ORPHA:98907
Neutral Lipid Storage Disease With Myopathy
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Myalgia, Chronic p... OMIM:610717
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, N... OMIM:256030
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity OMIM:616629
Acquired Partial Lipodystrophy
Arthralgia, Hepatic steatosis, Myopathy ORPHA:79087
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr... OMIM:614817
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... OMIM:615812
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration OMIM:609500
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... ORPHA:30391
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr... OMIM:615558
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity ORPHA:96184
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Myopathy OMIM:618234
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Memory impairment, Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hepa... ORPHA:189427
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Exercise intolerance, Abnormal circulating creatine k... OMIM:614807
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder OMIM:613670
Fanconi-Bickel Syndrome
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... ORPHA:2088
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... OMIM:617070
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Progressive neurologic deterioration, Necrotizing myopathy, Dementia, Myalgia, F... ORPHA:329478
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Myalgia, Elevated circulati... OMIM:603511
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Smith-Magenis Syndrome
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... OMIM:615895
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Glycogen Storage Disease Ixd
Exercise intolerance, Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Low... OMIM:300559
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hepatic steatosis, Myopathy, Cirrhosis, Hypertriglyceri... ORPHA:79086
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Bardet-Biedl Syndrome 16
Obesity, Cognitive impairment OMIM:615993
Ataxia With Vitamin E Deficiency
Short term memory impairment, Tendon xanthomatosis, Xanthelasma, Increased LDL cholesterol concen... OMIM:277460
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Myositi... OMIM:617591
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Argininosuccinic Aciduria
Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio... OMIM:207900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... OMIM:606003
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, EMG: myopathic abnormalities, Intrinsic hand musc... ORPHA:399086
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:619487
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration, Tendon xanthomatosis OMIM:603776
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Low plasma citrulli... OMIM:261680
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Gaisböck Syndrome
Obesity, Epigastric pain, Cholecystitis, Hyperuricemia, Fatigue, Hypercholesterolemia, Hypertrigl... ORPHA:90041
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Cognitive impairment, Hyperuricemia ORPHA:364
Spastic Paraplegia 11, Autosomal Recessive
Mental deterioration, Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Urinary incon... OMIM:604360
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Skeletal mus... OMIM:160150
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Hypoplasia of the musculature, Failure to thri... ORPHA:231226
Drug-Induced Lupus Erythematosus
Myalgia, Elevated circulating creatine kinase concentration, Arthralgia, Constitutional symptom, ... ORPHA:231111
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Skelet... OMIM:616263
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:212065
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... OMIM:619902
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen, Cog... OMIM:235400
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71526
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Glycogen Storage Disease Ixb
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g... OMIM:261750
Xp21 Deletion Syndrome
Decreased muscle mass, Confusion, Myopathy, Elevated circulating creatine kinase concentration, C... ORPHA:261476
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Short attention span ORPHA:444002
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre... OMIM:600649
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Increased intramuscular fat, Myalgia, Hepatic steatosis,... OMIM:151660
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Elevated circulating hepatic transaminase concentration, La... ORPHA:263455
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ... OMIM:619418
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Hypercalcemia, Increased blood urea nitrogen, Progressive psychomotor deterioration ORPHA:251004
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis OMIM:615996
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinas... OMIM:123320
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Obesity, Memory impairment, Cognitive impairment ORPHA:369873
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Abnormal circulating thyroglobulin concentration,... ORPHA:90674
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Progressive neurologic deterioration, Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... OMIM:222470
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Obesity Due To Congenital Leptin Deficiency
Obesity, Hypertriglyceridemia ORPHA:66628
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder, Hypercholesterol... ORPHA:819
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Hypoplasia of the musculature, Failure to thri... ORPHA:231214
Donohue Syndrome
Hepatic fibrosis, Skeletal muscle atrophy, Cholestasis, Pancreatic islet-cell hyperplasia, Severe... OMIM:246200
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Confusion, Increased blood urea nitrogen, Prolonge... OMIM:274150
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Hypertriglyceridemia ORPHA:179494
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Acquired Aneurysmal Subarachnoid Hemorrhage
Impairment of activities of daily living, Memory impairment, Left ventricular hypertrophy, Hyperc... ORPHA:90065
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Decreased muscle mass, Abdominal obesity ORPHA:631
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive, Elevated circulating aspartate... OMIM:615595
Subaortic Stenosis-Short Stature Syndrome
Obesity, Abnormal circulating lipid concentration, Biliary tract abnormality ORPHA:3191
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Obesity, Hyperlipidemia, Hepatic steatosis ORPHA:254346
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine kinase co... OMIM:618416
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Exercise intolerance, Elevated circulating hepatic transaminase concent... OMIM:614921
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Myalgia, Splenomegaly, Hepatic steatosis, Myopathy, Prox... ORPHA:280365
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva... OMIM:607330
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Cognitiv... ORPHA:470
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... OMIM:613530
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia OMIM:609734
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Lower limb muscle weakness, Asthenia, Obesity, Myalgia OMIM:619737
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Hepatic steatosis, Eleva... OMIM:212138
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... ORPHA:2593
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:610198
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Progressive neurologic deterioration, Fatigue, Pancreatic islet-cell hyper... ORPHA:276608
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Mental deterioration, Exercise intolerance, Chest pain, Lower limb pain, Myalgia, Ragged-red musc... ORPHA:1349
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Failure to thrive, Tall stature, Hepatic steatosis, Pancreatitis, Hyperhomocy... OMIM:236200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Mitochondrial Trifunctional Protein Deficiency
Exercise intolerance, Lower limb muscle weakness, Cholestasis, Failure to thrive in infancy, Myal... ORPHA:746
Central Core Disease
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... ORPHA:597
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Fatigue, Hypertri... OMIM:619802
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct... OMIM:216360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618992
Bardet-Biedl Syndrome 21
Obesity, Elevated circulating hepatic transaminase concentration, Overweight OMIM:617406
Mehmo Syndrome
Obesity, Small for gestational age OMIM:300148
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:333
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Cockayne Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Foot joint contracture, Failure to thriv... ORPHA:90321
Aromatase Deficiency
Tall stature, Obesity, Hyperlipidemia, Hepatic steatosis, Eunuchoid habitus, Bone pain ORPHA:91
Adrenomyodystrophy
Myopathy, Hepatic steatosis, Failure to thrive ORPHA:977
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Pain, Hypocalc... ORPHA:247353
Combined Oxidative Phosphorylation Deficiency 27
Mental deterioration, Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration OMIM:618398
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Hyperuricemia ORPHA:261222
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... OMIM:619790
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepat... ORPHA:79259
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Portal hypertension OMIM:617341
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Hepatomegaly, Increased C-peptid... ORPHA:276556
Morm Syndrome
Truncal obesity ORPHA:75858
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:608594
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elbow flexion... OMIM:608836
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Weakness of facial musculature, In... OMIM:223360
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,... OMIM:203800
Reni Syndrome
Hypoalbuminemia, Mental deterioration, Hypertriglyceridemia OMIM:617575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Focal pancreatic islet hyperplas... ORPHA:276575
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Mednik Syndrome
Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Ci... OMIM:609313
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Nephronophthisis 16
Cholestasis, Periportal fibrosis OMIM:615382
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Pigmented Nodular Adrenocortical Disease, Primary, 2
Mental deterioration, Increased circulating cortisol level, Primary hypercortisolism, Pancreatiti... OMIM:610475
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Fatigue, Increased circulating cortisol level, Abdominal obesity OMIM:615954
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Exercise intolerance, Hepatic failure, Myalgia,... ORPHA:157
Prader-Willi Syndrome
Class III obesity, Decreased muscle mass, Decreased HDL cholesterol concentration, Failure to thr... OMIM:176270
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ra... OMIM:614924
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Muscle fibe... OMIM:613205
Trisomy 5P
Obesity ORPHA:1742
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity OMIM:617991
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive ORPHA:300536
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Intellectual Developmental Disorder, Autosomal Dominant 72
Facial hypotonia, Tall stature, Obesity, Attention deficit hyperactivity disorder OMIM:620439
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:269700
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase... OMIM:620376
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness OMIM:618124
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Failure to thrive ORPHA:2089
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Jaundice, Fatigue, Hepatomegaly, Abdominal p... ORPHA:234
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... ORPHA:228308
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Skeletal muscle atrophy, Increased circulating cortisol level, Primary hype... OMIM:219080
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Exercise intolerance, Muscle fiber atrophy, Mya... ORPHA:228302
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Pain, Low back pain, Flank pain, Fatigue, Weight l... ORPHA:49041
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... OMIM:210250
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Exercise intolerance, Elevated circulating hepatic transaminase concentratio... OMIM:124000
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Increased C-peptide level, Hepatomegaly, Small for gestational age, De... ORPHA:324575
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp... ORPHA:731
Congenital Macroglossia
Abnormal hepatic glycogen storage, Macroglossia ORPHA:2430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... OMIM:616812
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi... OMIM:301068
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive OMIM:210200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Low back pain, Elevated circulatin... OMIM:277700
Seckel Syndrome 10
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul... OMIM:617253
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concent... OMIM:609452
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Obesity, Biliary tract abnormality, Left ventricular hypertrophy, Truncal obesi... OMIM:209900
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... ORPHA:79644
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bardet-Biedl Syndrome 20
Obesity, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholesterolemia OMIM:619471
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Glycerol Kinase Deficiency
Muscular dystrophy, Myalgia, Chronic pancreatitis, Myopathy, Hypertriglyceridemia, Hyperglycerole... OMIM:307030
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Chest pain, Fatigue, Elevated circulating creatinine concentration ORPHA:230
Rafiq Syndrome
Obesity, Flexion contracture, Truncal obesity OMIM:614202
Macrocephaly/Autism Syndrome
Obesity, Large for gestational age, Short attention span, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria OMIM:601539
Macrocephaly-Intellectual Disability-Autism Syndrome
Attention deficit hyperactivity disorder, Hepatic steatosis ORPHA:210548
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Hereditary Renal Hypouricemia
Hypouricemia, Back pain, Postexertional symptom exacerbation, Increased blood urea nitrogen ORPHA:94088
Neuropathy, Hereditary Sensory And Autonomic, Type Iii