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Gene: Neu2 MGI:1344417

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Elevated circulating creatinine concentration, Acrocyanosis, Increased blood urea nitrogen OMIM:223900
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Encopresis, Short attention span, Decreased body weight, Facial hypotonia, Abdominal pai... ORPHA:589821
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Mehmo Syndrome
Obesity ORPHA:85282
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Failure to thrive, Hepatocellul... OMIM:256810
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Facial hypotonia, Pain... OMIM:615273
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Obesity ORPHA:261229
Narcolepsy Type 1
Attention deficit hyperactivity disorder, Transient global amnesia, Obesity ORPHA:2073
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Short attention span ORPHA:411515
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Mody
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Abnormal circu... ORPHA:552
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Attention deficit hyperactivity disorder, Fatigue ORPHA:589905
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:618329
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent... ORPHA:17
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... OMIM:261515
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity, Short attention span OMIM:618089
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Short attention span, Attention deficit hyperacti... ORPHA:73272
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Bardet-Biedl Syndrome
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:110
Mandibuloacral Dysplasia With Type A Lipodystrophy
Elbow flexion contracture, Hyperlipidemia, Camptodactyly, Hypercholesterolemia, Calcinosis, Hepat... OMIM:248370
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Myalgia, Exercise-induced rhabdomyolysis, Skeletal m... ORPHA:57
Polymyositis
Myalgia, Elevated circulating creatine kinase concentration, Arthralgia, Fatigue, Weight loss, Ab... ORPHA:732
Biemond Syndrome Type 2
Obesity ORPHA:141333
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Pseudopseudohypoparathyroidism
Obesity, Cognitive impairment OMIM:612463
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Hypertrig... ORPHA:31150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Conju... OMIM:208500
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Hip contracture, Truncal obesity OMIM:618363
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste... ORPHA:348
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity OMIM:600955
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity, Arthralgia OMIM:618821
Clark-Baraitser Syndrome
Obesity OMIM:617752
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Elevated circulating hepatic transaminase concentration, Hy... ORPHA:94086
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity, Abnormal circulating acylcarnitine concentration OMIM:620191
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Precordial pain, Abnormality of the shoulder girdle musculature, Hyperlipidemia,... ORPHA:565612
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Cognitive impairment OMIM:612462
Congenital Myopathy 9A
Obesity, EMG: myopathic abnormalities OMIM:618822
Monosomy 13Q34
Obesity, Hypercalcemia, Hepatic steatosis ORPHA:96168
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... OMIM:277900
Syndromic Diarrhea
Hepatic fibrosis, Abnormality of the liver, Splenomegaly, Hepatoblastoma, Cirrhosis, Hepatomegaly... ORPHA:84064
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Shox-Related Short Stature
Obesity, Skeletal muscle hypertrophy ORPHA:314795
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Chest pain, Myalgia, Myopathy, ... ORPHA:206569
Osteogenesis Imperfecta, Type Xxiii
Truncal obesity, Torticollis OMIM:620639
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... ORPHA:681
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Camptodactyly, Flexion contracture, Arthrogryposis multipl... OMIM:615547
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Adiposis Dolorosa
Memory impairment, Obesity, Arthralgia, Fatigue ORPHA:36397
Methanol Poisoning
Confusion, Abdominal pain, Hyperlipidemia ORPHA:31825
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Obesity ORPHA:464282
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy, Hypomimic face ORPHA:93952
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Attention deficit hyperactivity disorder, Fatigue, Small for gestational age OMIM:274300
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Hyperuricemia, Lipid acc... ORPHA:20
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Obesity OMIM:301013
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Failure to thrive OMIM:613989
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Obesity, Hyperphosphatemia, Cognitive impairment OMIM:103580
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Tall stature, Obesity ORPHA:10
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Idiopathic Intracranial Hypertension
Obesity, Back pain ORPHA:238624
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Macroglossia, Increased body mass index OMIM:614450
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... ORPHA:1454
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Adams-Oliver Syndrome
Cirrhosis, Portal hypertension, Failure to thrive, Congenital hepatic fibrosis ORPHA:974
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperbilirubinemia, H... OMIM:229600
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Short attention span OMIM:619056
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Small for gestational age, Multiple join... ORPHA:2959
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Failure to thrive, Polysplenia OMIM:610543
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:118450
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Distal amyotrophy, Memory impairment, Lower limb muscle weakness, Generaliz... ORPHA:2822
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Myopathy, Hepatic steatosis, Decreased liver function OMIM:614922
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Elevated circulating hepatic transaminase concentration, Elevated circ... ORPHA:66634
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Pigmented Nodular Adrenocortical Disease, Primary, 1
Mental deterioration, Increased circulating cortisol level, Primary hypercortisolism, Truncal obe... OMIM:610489
Nephronophthisis 3
Hepatic fibrosis, Failure to thrive OMIM:604387
Temple Syndrome
Obesity, Small for gestational age ORPHA:254516
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Truncal obesity ORPHA:284180
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Xanthelasma, Hype... OMIM:232200
15Q24 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Small for gestational age, Failure to thrive ORPHA:94065
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Meckel Syndrome 14
Hepatic fibrosis, Cyanosis OMIM:619879
Wagr Syndrome
Obesity ORPHA:893
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity ORPHA:3085
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Dementia, Distal upper limb amyotrophy, Abnorma... ORPHA:600
13Q12.3 Microdeletion Syndrome
Camptodactyly, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:412035
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Macroglossia, Failure to thrive, Cholestasis, Hepatosplenomegaly, Congenital he... OMIM:266920
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... ORPHA:167
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Facial hypotonia, Obesity, Flexion contracture OMIM:300055
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Elevated circulating hepatic transaminase concentration, Skeletal mus... OMIM:256040
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Lower limb muscle weakness, Hypomagnesemi... ORPHA:79102
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Mental deterioration, Obesity, Progressive language deterioration ORPHA:163681
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity ORPHA:171839
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Joubert Syndrome 1
Hepatic fibrosis, Macroglossia OMIM:213300
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Mental deterioration, Cholelithiasis, Elevated circulating hepa... ORPHA:273
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Failure to thrive, Decreased liver function, Hepatomegaly, Skeletal muscle steatosis, Diffuse hep... ORPHA:436271
Urban-Rogers-Meyer Syndrome
Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
H Syndrome
Camptodactyly, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:168569
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Distal lower limb amyotrophy, Abdominal obesity OMIM:300354
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Exercise intolerance, Elevated circulating hepatic transaminase concentration, S... OMIM:613658
Insulinoma
Increased body weight, Abnormality of the pancreatic islet cells, Fatigue, Transient global amnesia ORPHA:97279
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Fatigue, Overweight ORPHA:99832
Retinitis Pigmentosa 51
Obesity OMIM:613464
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... OMIM:619534
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Myalgia,... OMIM:615356
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity OMIM:615986
Carpenter Syndrome
Obesity, Polysplenia ORPHA:65759
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubinemia, Cholecystitis... OMIM:611881
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Large for gestational age,... OMIM:616026
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Skeletal muscle atrophy, Abdominal obesity OMIM:219090
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity OMIM:612291
Laurence-Moon Syndrome
Obesity OMIM:245800
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Flexion contracture of digit, Truncal obesity, Decreased muscle mass ORPHA:3041
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Hypokalemia, Increased body weight, Ele... ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Attention deficit hyperactivity disorder, Disproportionate tall stature, Abdominal... OMIM:301039
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Failure to thrive, Increased circulating ferritin concentration, Splenom... OMIM:222700
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis OMIM:200995
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Eunuchoid habitus ORPHA:2234
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Goodpasture Syndrome
Chest pain, Cyanosis, Fatigue, Weight loss, Increased blood urea nitrogen, Chills OMIM:233450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exercise intolerance, Failure to thrive, Decreased liver function, Weakness of facial musculature... OMIM:220110
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Distal amyotrophy, Slender build, Ragged-red mus... OMIM:603041
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin... ORPHA:699
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Azotemia, Hepatic steatosis, Abdominal obesity OMIM:619321
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity, Encopresis OMIM:618443
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl... ORPHA:391665
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Splenomegaly, Hepatomegaly, Macroglossia, Macrovesicular hepatic steatosis, Flex... OMIM:617303
Perrault Syndrome 4
Obesity, Cognitive impairment, Disproportionate tall stature OMIM:615300
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Left ventricular hypertrophy, Hypertrigl... OMIM:619127
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hypoc... OMIM:218330
Marbach-Schaaf Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Obesity, Torticollis OMIM:619680
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia, Failure to th... ORPHA:261197
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Primary hypercortisolism, Increased circulating cortisol level OMIM:615830
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Abdominal obesity OMIM:300869
Megalencephaly
Truncal obesity ORPHA:2477
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Obesity, Cachexia, Arthralgia ORPHA:813
Mitochondrial Complex I Deficiency, Nuclear Type 20
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Hepatic failure, M... OMIM:611126
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Rabin-Pappas Syndrome
Hyponatremia, Overgrowth, Failure to thrive in infancy, Obesity OMIM:620155
Radio-Tartaglia Syndrome
Attention deficit hyperactivity disorder, Obesity OMIM:619312
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exoc... OMIM:620005
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity OMIM:601794
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Lower limb muscle weakness, Recurrent pancreatitis, Hypercholesterolemia, Hype... OMIM:606721
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Birth length greater than 97th percentile, Large for gestational age, ... OMIM:300868
Peripartum Cardiomyopathy
Chest pain, Obesity, Left ventricular hypertrophy, Fatigue, Abdominal pain ORPHA:563
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Bardet-Biedl Syndrome 17
Obesity, Cognitive impairment OMIM:615994
Sheehan Syndrome
Obesity, Hyponatremia, Decreased circulating cortisol level, Arthralgia, Chronic fatigue, Chills ORPHA:91355
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:881
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Familial Multiple Lipomatosis
Overgrowth, Hyperlipidemia ORPHA:199276
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Failure to thrive, Obesity, Hyperbilirub... OMIM:619475
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity ORPHA:127
Leptin Receptor Deficiency
Obesity OMIM:614963
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Splenomegal... OMIM:232220
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Chest pain, Hypocalcemic tetany, Obesity, Confusion, Hypocalcemia, Calcinosis,... ORPHA:79444
Carpenter Syndrome 1
Camptodactyly, Obesity, Joint contracture of the hand, Polysplenia OMIM:201000
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating lipid concentration... ORPHA:2298
Meningioma
Transient global amnesia, Memory impairment, Upper limb muscle weakness, Lower limb muscle weakne... ORPHA:2495
Achondroplasia
Obesity, Hypoxemia ORPHA:15
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Unconjugated hyperbilirubinemia, Asthenia, Chest pain, ... ORPHA:447
Metaphyseal Chondrodysplasia, Schmid Type
Obesity, Arthralgia ORPHA:174
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Generalized amyotrophy, Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Splenom... OMIM:301072
Atypical Werner Syndrome
Skeletal muscle atrophy, Failure to thrive, Hepatic steatosis, Abnormality of the Achilles tendon... ORPHA:79474
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... ORPHA:171881
Aicardi-Goutieres Syndrome 7
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatic steatosis, Weight ... OMIM:615846
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis OMIM:616271
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Limb hypertonia, Lower limb hypertonia OMIM:617296
Orofaciodigital Syndrome I
Hepatic fibrosis, Pancreatic cysts, Hepatic cysts OMIM:311200
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Tall stature, Obesity ORPHA:96263
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Obesity, Hypocapnia, Fatigue, Elevated circulating C-rea... ORPHA:70591
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:445038
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Man1B1-Cdg
Truncal obesity ORPHA:397941
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the musculature, Hepatic cysts, Torticollis, Hepatomegaly ORPHA:79328
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Distal amyotrophy, ... OMIM:164310
White-Sutton Syndrome
Facial hypotonia, Obesity, Congenital diaphragmatic hernia, Failure to thrive OMIM:616364
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Disproportionate tall stature, Abnormal muscle fiber morph... ORPHA:3068
Septo-Optic Dysplasia Spectrum
Obesity, Fatigue ORPHA:3157
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Cognitive impairment, Abnormal circulating lipid concentration OMIM:616541
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Desbuquois Dysplasia 1
Obesity OMIM:251450
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity, Short attention span ORPHA:98794
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,... OMIM:618278
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly, Ca... ORPHA:2072
Angelman Syndrome
Macroglossia, Obesity OMIM:105830
Pde4D Haploinsufficiency Syndrome
Obesity ORPHA:439822
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Hyperaldosteronism, Hyponatremia, Hypokalemia, Attention deficit hyperactivity... ORPHA:534
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Bloom Syndrome
Elevated hemoglobin A1c, Small for gestational age, Hepatic steatosis OMIM:210900
Den Hoed-De Boer-Voisin Syndrome
Obesity, Overweight, Short attention span, Decreased body weight OMIM:619229
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Failure to thrive, Exocrine pancreat... OMIM:243800
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Obesity, Failure to thrive ORPHA:96147
Tatton-Brown-Rahman Syndrome
Obesity, Proportionate tall stature ORPHA:404443
Alström Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:64
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Kleefstra Syndrome 1
Macroglossia, Obesity OMIM:610253
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Obesity, Short attention span, Cholecystitis, Hepatomegaly OMIM:301066
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Back pain ORPHA:439232
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Pancreatitis, Small for gestational age, Failure to thrive ORPHA:1830
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Splenomegaly OMIM:269860
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Failure to thrive, Camp... OMIM:309000
Cohen Syndrome
Facial hypotonia, Childhood-onset truncal obesity, Small for gestational age OMIM:216550
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Chest pain, Hypocalcemic tetany, Obesity, Confusion, Hypocalcemia, Calcinosis,... ORPHA:79443
Webb-Dattani Syndrome
Obesity, Hypernatremia OMIM:615926
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated circulating hepatic transaminase concentration, Obesity, Hyperlipidemia, Cyanosis, Hypon... ORPHA:293987
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Camptodactyly of finger, Slender build, Confusion, Myalgia, Hepatic steatosis,... ORPHA:3455
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, Camptodactyly of finger ORPHA:85293
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Joint contracture of the 5th finger, Attention deficit hyperactivity disord... OMIM:619934
Kleefstra Syndrome
Macroglossia, Obesity, Bowel incontinence ORPHA:261494
Bdv Syndrome
Obesity OMIM:619326
Glycogen Storage Disease Ic
Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, Hepatomegaly, H... OMIM:232240
Cushing Disease
Memory impairment, Increased circulating cortisol level, Increased body weight, Proximal amyotrop... ORPHA:96253
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Tall stature, Obesity, Large for... ORPHA:116
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder, Prolon... OMIM:117550
White-Sutton Syndrome
Facial hypotonia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hepatic steat... OMIM:270400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Abdominal pain, Fatigue, Hyperlipidemia ORPHA:567546
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Arthralgia, Hyperlipidemia ORPHA:90153
Hellp Syndrome
Elevated circulating hepatic transaminase concentration, Shoulder pain, Epigastric pain, Increase... ORPHA:244242
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Failure to thrive, Abdominal obesity ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Increased body weight, Cognitive impairment, Abdominal obesity, Flexion contra... ORPHA:398069
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Failure ... OMIM:619525
Combined Oxidative Phosphorylation Deficiency 15
Progressive neurologic deterioration, Obesity, Cognitive impairment OMIM:614947
Insulin-Like Growth Factor I, Resistance To
Truncal obesity, Decreased body weight OMIM:270450
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Failure to thrive in infancy, Elbow f... ORPHA:96149
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Hypertriglyceridemia, Flexion contracture, Small for gestational age, Generali... OMIM:264090
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Calcinosis ORPHA:90154
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Abnormal... ORPHA:1606
Meckel Syndrome
Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C... ORPHA:564
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
Angelman Syndrome
Obesity ORPHA:72
Cohen Syndrome
Failure to thrive in infancy, Obesity ORPHA:193
Fabry Disease
Abnormal circulating lipid concentration, Myalgia, Hyperlipidemia, Left ventricular hypertrophy, ... ORPHA:324
Tako-Tsubo Cardiomyopathy
Chest pain, Abnormal circulating B-type natriuretic peptide concentration, Obesity, Mildly elevat... ORPHA:66529
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Ulnar-Mammary Syndrome
Obesity, Aplasia of the pectoralis major muscle, Camptodactyly of finger ORPHA:3138
Narcolepsy 7
Obesity OMIM:614250
Wagro Syndrome
Obesity OMIM:612469
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypomagnesemia, Cholestasis, Elbow flexion contracture, Hepatosplenomegaly, Po... OMIM:619503
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Attention deficit hyperactivity disorder, Obesity, Truncal obesity ORPHA:466950
Intellectual Developmental Disorder, Autosomal Dominant 29
Attention deficit hyperactivity disorder, Obesity OMIM:616078
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Obesity OMIM:620654
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Obesity, Small for gestational age, Failure to thrive ORPHA:98754
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis, Left ventricular hypertrophy... OMIM:220111
Cushing Syndrome Due To Ectopic Acth Secretion
Memory impairment, Increased circulating cortisol level, Asthenia, Pancreatic adenocarcinoma, Pan... ORPHA:99889
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obesity, Small for gestational age, Failure to thrive ORPHA:98793
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Obesity ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obesity, Small for gestational age, Failure to thrive ORPHA:177904
22Q11.2 Deletion Syndrome
Cholelithiasis, Failure to thrive, Obesity, Myalgia, Splenomegaly, Hypocalcemia, Attention defici... ORPHA:567
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obesity, Small for gestational age, Failure to thrive ORPHA:177901
Down Syndrome
Macroglossia, Obesity ORPHA:870
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Attention deficit hyperactivity disorder, Truncal obesity ORPHA:2637
7Q11.23 Microduplication Syndrome
Obesity, Congenital diaphragmatic hernia ORPHA:96121
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Digeorge Syndrome
Cholelithiasis, Obesity, Splenomegaly, Hepatic steatosis, Hypocalcemia, Attention deficit hyperac... OMIM:188400
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Retinitis Pigmentosa
Obesity ORPHA:791
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Obesity, Failure to thrive ORPHA:369950
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Obesity, Attention deficit hyperactivity disorder, Truncal obesity, Facial palsy OMIM:615873
Xq21 Microdeletion Syndrome
Obesity, Upper limb muscle weakness, Abnormality of the Achilles tendon ORPHA:1435
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Ogden Syndrome
Hyperbilirubinemia, Microvesicular hepatic steatosis, Torticollis, Jaundice, Macrovesicular hepat... OMIM:300855
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Obesity, Elevated circulating hepatic transaminase concentration OMIM:614231
Kallmann Syndrome
Obesity ORPHA:478
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Myhre Syndrome
Generalized muscle hypertrophy, Obesity, Camptodactyly, Small for gestational age, Skeletal muscl... OMIM:139210
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Attention deficit hyperactivity disorder, Obesity ORPHA:466943
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Kabuki Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:2322
Prader-Willi Syndrome
Attention deficit hyperactivity disorder, Failure to thrive, Abdominal obesity ORPHA:739
White-Kernohan Syndrome
Attention deficit hyperactivity disorder, Obesity OMIM:619426
Williams Syndrome
Macroglossia, Cholelithiasis, Abnormal circulating lipid concentration, Failure to thrive in infa... ORPHA:904
Retinitis Pigmentosa 74
Obesity OMIM:616562
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:79318
Adnp Syndrome
Urinary incontinence, Attention deficit hyperactivity disorder, Truncal obesity ORPHA:404448
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity OMIM:618653
Williams-Beuren Syndrome
Sudden death, Failure to thrive in infancy, Obesity, Portal hypertension, Short attention span, A... OMIM:194050
Craniopharyngioma
Obesity ORPHA:54595
Rubinstein-Taybi Syndrome 1
Accessory spleen, Failure to thrive, Short attention span, Truncal obesity, Hepatic hemangioma, F... OMIM:180849
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Obesity ORPHA:444077
Witteveen-Kolk Syndrome
Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Fatigue, Cont... OMIM:613406
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity OMIM:619269
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Muscle hypertrophy of the lower extremities ORPHA:1772
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Short attention span, Failure to thrive OMIM:617157
Bloom Syndrome
Small for gestational age, Abdominal obesity ORPHA:125
6Q Terminal Deletion Syndrome
Obesity, Failure to thrive ORPHA:75857
Carpenter Syndrome 2
Camptodactyly, Obesity, Knee flexion contracture, Diaphragmatic eventration OMIM:614976
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity ORPHA:529962
Woodhouse-Sakati Syndrome
Mental deterioration, Hyperlipidemia ORPHA:3464
Carney Complex
Increased circulating cortisol level, Tall stature, Increased body weight, Abdominal obesity, Neo... ORPHA:1359
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Obesity, Failure to thrive, Social and occupational deterioration ORPHA:353281
Primrose Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, Hip contracture, Attention ... OMIM:259050
Monosomy 22Q13.3
Obesity ORPHA:48652
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Obesity, Failure to thrive, Social and occupational deterioration ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Obesity, Failure to thrive, Social and occupational deterioration ORPHA:353277
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Cornelia De Lange Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Failure to thrive, Tru... ORPHA:199
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly, Obesity, Camptodactyly of finger OMIM:607872
Ulnar-Mammary Syndrome
Elbow flexion contracture, Obesity OMIM:181450
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Camptodactyly, Failure to thrive, Truncal obesity OMIM:612474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Macroglossia, Obesity, Lower limb hypertonia OMIM:309580
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Obesity, Congenital diaphragmatic hernia, Macroglossia, Flexion... OMIM:601803

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 Neu2

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 Neu2.

No publications found that use IMPC mice or data for Neu2.

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
Neu2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Neu2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Neu2em1(IMPC)Marc Deletion Mice

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