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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 hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula... ORPHA:293964
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Hypertriglyceridemia, Elevated... OMIM:610717
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Chest pain, Obesity OMIM:608320
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Confusion, Portal inflammation, Elevated circulating alanine aminotransfera... OMIM:603471
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short attention span, Fatty replacement of skeletal muscle, Obesity, Proximal muscle weakness in ... ORPHA:171706
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... OMIM:616199
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Decreased circulating cerul... OMIM:616828
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:232400
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... ORPHA:611
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Mildly elevated creatine kin... OMIM:618400
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia ORPHA:366
Plin1-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypertriglyceridemia, Splenomegaly, Hyperur... OMIM:306000
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hepatic steatosis, Elevated circulating creatine kinase concentration, H... OMIM:615980
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... OMIM:278000
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... OMIM:617872
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hepatomegaly, Hypertriglyceridemia OMIM:615924
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Small for gestation... ORPHA:26793
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Fatig... ORPHA:79240
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Fatig... ORPHA:264580
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder OMIM:301033
Nonaka Myopathy
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... OMIM:605820
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia, Failure to thrive OMIM:615863
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:98855
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... OMIM:618655
Pediatric Hepatocellular Carcinoma
Fatigue, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Port... ORPHA:33402
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Elevated circulating cr... OMIM:619733
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re... OMIM:500002
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... ORPHA:446
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:98863
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:98853
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re... OMIM:616209
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Myopathy, Failure to thrive, Hepatic steatosis ORPHA:26792
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... ORPHA:567983
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... ORPHA:69663
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Sudden cardiac death OMIM:610947
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... OMIM:609115
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal... ORPHA:457050
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b... OMIM:616719
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ... ORPHA:71
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Progressive psychomotor deterioration, Myopathy, Cognitive im... ORPHA:363400
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... OMIM:619048
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... ORPHA:178464
Welander Distal Myopathy
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles OMIM:604454
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Obesity ORPHA:329249
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia OMIM:620357
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Exercise intolerance, Obesity, Cognitive impairment OMIM:619058
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... OMIM:500009
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Exercise intolerance, Decreased muscle mass, Hypertriglyceridemia,... OMIM:619013
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia ORPHA:94124
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca... OMIM:616222
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... ORPHA:98908
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Fatigue, Elevated circulati... ORPHA:42
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... OMIM:618848
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Skeletal muscle hypertrophy, Macroglossia, Proportionate tall... ORPHA:528
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Generalized limb muscle atrophy, Hepatosplenomegaly, Hepatic fibrosis, Dis... ORPHA:466794
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Elevated circulating creatine kinase concentration, Upper limb muscle weakn... ORPHA:309169
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Abnormality of s... ORPHA:79083
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... OMIM:601954
Galactokinase Deficiency
Psychomotor deterioration, Hepatomegaly, Small for gestational age, Hepatosplenomegaly, Increased... ORPHA:79237
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia OMIM:607250
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Hyperuricemia, Cognitive impairment, Memory impairment ORPHA:77296
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Elevated circulating creatine ... ORPHA:228305
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... ORPHA:263501
Analbuminemia
Fatigue, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration,... OMIM:616000
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Hemochromatosis, Type 4
Fatigue, Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturat... OMIM:606069
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... ORPHA:266
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic ... ORPHA:444490
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive impairm... OMIM:616267
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Attention deficit hyperactivity disorder, Increased C-pepti... OMIM:620211
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Contractures of the large joints, Increased circulati... ORPHA:2457
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Gast... ORPHA:276435
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Elevated circulating creatine kinase conc... OMIM:615418
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:614321
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Obesity OMIM:617885
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Chills, Hepatomegaly... ORPHA:53035
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Elevated cir... OMIM:167320
Adiposis Dolorosa
Fatigue, Arthralgia, Chronic pain, Obesity OMIM:103200
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Jaundice, Increased body weight, Inc... ORPHA:890
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, F... ORPHA:79319
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... OMIM:254110
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:617093
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Confusion, Elevated circulating creatine kinase concentration, Elevated circulating... OMIM:212140
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal muscle fiber size, Skel... ORPHA:2348
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Elevated circulating creatine kinase concentration... OMIM:201475
Obesity And Hypopigmentation
Overgrowth, Hepatic steatosis, Obesity OMIM:620195
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy... OMIM:253601
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:79230
Oculopharyngodistal Myopathy 2
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... OMIM:618940
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Elevated circulating creatine kinase c... OMIM:160500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Distal amyotrophy, Dementia, Hypoalbuminemia,... OMIM:208920
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hepat... OMIM:602579
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Elevated circulating creatine kinase concentration, Centrally nucleated ske... OMIM:620235
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Splenomegaly, Jaun... ORPHA:905
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity ORPHA:254531
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic... ORPHA:435651
Congenital Analbuminemia
Fatigue, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbumi... ORPHA:86816
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity Due To Sim1 Deficiency
Increased resting energy expenditure, Obesity, Cognitive impairment, Attention deficit hyperactiv... ORPHA:369873
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... OMIM:619477
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620286
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia, Limb hypertonia OMIM:615918
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Adenocarcinoma Of The Esophagus
Chest pain, Obesity ORPHA:99976
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Hypertriglyceridemia, Elevated... OMIM:613327
Dpm3-Cdg
Elevated hepatic transaminase, Calf muscle hypertrophy, Chest pain, Muscular dystrophy, Pelvic gi... ORPHA:263494
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... ORPHA:254864
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in upper limbs, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... ORPHA:435660
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Abdominal pain, Hepatosplenomeg... ORPHA:275761
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... OMIM:608423
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Frontot... ORPHA:52430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Abnormal circulating creatine kinase conce... ORPHA:369840
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level OMIM:615238
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elevated circulating... OMIM:614300
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... OMIM:604367
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... OMIM:300972
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Exercise intolerance, Elevated circulatin... OMIM:620138
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Muscle Filaminopathy
Extremely elevated creatine kinase, Back pain, Scapular winging, Fatty replacement of skeletal mu... ORPHA:171445
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... OMIM:615381
Oculopharyngeal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... ORPHA:270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Elevated circulating ... ORPHA:99901
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Myopathy, Limb... OMIM:612937
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Abdominal pain, Ragged-red muscle... ORPHA:298
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Failure to thrive, Hepatic fibrosis, Hepatosplenomegaly OMIM:619858
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... OMIM:300696
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Cognitive... ORPHA:459033
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Cholestasis-Lymphedema Syndrome
Fatigue, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Hyperlipidemia, Jaundic... ORPHA:1414
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity ORPHA:2377
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration OMIM:609500
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Sternocleidomastoid amyotr... OMIM:256030
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... OMIM:619386
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... OMIM:251880
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Type 2 muscle fiber a... OMIM:613845
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis OMIM:608709
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Acquired Partial Lipodystrophy
Myopathy, Arthralgia, Hepatic steatosis ORPHA:79087
Osteootohepatoenteric Syndrome
Abdominal pain, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal f... OMIM:619377
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Aceruloplasminemia
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... ORPHA:48818
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:601846
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... OMIM:603511
Myopathy, Centronuclear, 4
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine k... OMIM:614807
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... OMIM:617070
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... OMIM:614817
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Glycogen Storage Disease Ixd
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:300559
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... ORPHA:79303
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... ORPHA:97240
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to ... ORPHA:14
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity ORPHA:96184
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... ORPHA:2088
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder OMIM:613670
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... ORPHA:189427
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati... OMIM:615895
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Lactescent s... OMIM:238600
Bardet-Biedl Syndrome 16
Obesity, Cognitive impairment OMIM:615993
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... ORPHA:30391
Primary Biliary Cholangitis
Fatigue, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary c... ORPHA:186
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:79085
Miyoshi Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... OMIM:254130
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... OMIM:617069
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... OMIM:619487
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hepatic fibrosis, Obesity ORPHA:110
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... OMIM:608810
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... OMIM:606003
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Acute pancreatitis, Myopathy, ... ORPHA:79086
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotrophy, Neoplasm of the... ORPHA:171
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,... OMIM:277460
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Splenomegaly, Flexio... OMIM:617591
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Obesity, Mental deteriorati... OMIM:604360
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Gaisböck Syndrome
Fatigue, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Increased cir... ORPHA:90041
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplen... ORPHA:231226
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Fatigue, Ragged-red muscle fibers, Abdominal pain OMIM:616794
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Mildly elevated creatine kin... ORPHA:399086
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... ORPHA:329478
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abdominal pain, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnorma... ORPHA:567548
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Flexion contracture, Hypoalbumine... OMIM:212065
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis ORPHA:71526
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... OMIM:619473
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Low plasma citrulline, Elevated circulating alanine aminotransferase conc... OMIM:261680
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Tendon xanthomatosis, Xanthelasma OMIM:603776
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... OMIM:616924
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Attention deficit hyperactivity disorder ORPHA:444002
Creatine Phosphokinase, Elevated Serum
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... OMIM:123320
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Progressive neurologic deterioration, Large... ORPHA:263455
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase conc... ORPHA:261476
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... OMIM:613157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Cognitive impairment, Increased bl... OMIM:235400
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... OMIM:151660
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... OMIM:261750
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... OMIM:300718
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Steatorrhea, Hepatic fibrosis, Sk... OMIM:616263
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, A... ORPHA:86812
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Fatigue, Sudden cardiac dea... ORPHA:156
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Progressive psychomotor deterioration, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function, Progressive neurologic deterioration ORPHA:70472
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Summitt Syndrome
Obesity OMIM:272350
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... ORPHA:75840
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Beta-Thalassemia Major
Hepatomegaly, Failure to thrive in infancy, Hypoplasia of the musculature, Hepatocellular carcino... ORPHA:231214
Donohue Syndrome
Skeletal muscle atrophy, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Severe... OMIM:246200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... OMIM:603689
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... ORPHA:541423
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... OMIM:603553
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Attention deficit hyperactivity diso... ORPHA:819
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Cognitive impairment ORPHA:364
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Failure to thrive, Macroglossia, Attention deficit hyperactivity disorder, Prolonged neo... ORPHA:90674
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:620246
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Obesity ORPHA:66628
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Progressive neurologic deterioration, Cognitive impairment, Left ventricula... ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Small for gestational age, Abnormality of the pancreas, Splenome... OMIM:222470
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Thrombotic Thrombocytopenic Purpura, Hereditary
Confusion, Jaundice, Elevated circulating creatinine concentration, Increased blood urea nitrogen... OMIM:274150
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Exercise intolerance, Elevated circulating ... OMIM:614921
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Obesity ORPHA:179494
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Biliary tract abnormality, Obesity ORPHA:3191
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... OMIM:618484
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... ORPHA:280365
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Central Core Disease
Multiple joint contractures, Elevated circulating creatine kinase concentration, Myopathy, Abnorm... ORPHA:597
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis, Obesity ORPHA:254346
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Myalgia, Asthenia, Memory impairment, Lower limb muscle weakness OMIM:619737
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Sudden cardiac death, Microvesicul... OMIM:610198
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fibers, Hyp... OMIM:618416
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:212138
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue, Pancreatic islet-cell hyperplasia, Increased body weight, Progressive neurologic deterio... ORPHA:276608
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia OMIM:609734
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Chronic fatigue, Abdom... ORPHA:2137
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... ORPHA:470
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Mitochondrial Trifunctional Protein Deficiency
Exercise intolerance, Rigors, Failure to thrive in infancy, Rhabdomyolysis, Cholestasis, Skeletal... ORPHA:746
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... OMIM:618992
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... ORPHA:169189
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Intrahepatic cholestas... ORPHA:333
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... OMIM:619790
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... OMIM:620249
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Fatigue, Elevated circulating C-reactive protein con... ORPHA:247353
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... OMIM:216360
Adrenomyodystrophy
Myopathy, Failure to thrive, Hepatic steatosis ORPHA:977
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:310440
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Mehmo Syndrome
Small for gestational age, Obesity OMIM:300148
Immunodeficiency 97 With Autoinflammation
Fatigue, Hypertriglyceridemia, Abdominal pain, Splenomegaly, Increased circulating ferritin conce... OMIM:619802
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Disproportionate tall stature, Hypermethioninemia, Failure to thrive, Hepati... OMIM:236200
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Portal hypertension OMIM:617341
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Xa... ORPHA:79259
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... ORPHA:276556
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608836
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Increased blood urea nitroge... ORPHA:90321
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Increased serum pyruvate, Exercise intolerance, Ragged-red muscle fibers, Chest pain, My... ORPHA:1349
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... ORPHA:353
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... ORPHA:276575
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue, Increased circulating cortisol level, Increased body weight, Abdominal obesity OMIM:615954
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Primary hypercortisol... OMIM:610475
Aromatase Deficiency
Eunuchoid habitus, Hyperlipidemia, Bone pain, Obesity, Hepatic steatosis, Tall stature ORPHA:91
Reni Syndrome
Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Generalized w... ORPHA:353327
Combined Oxidative Phosphorylation Deficiency 27
Mental deterioration, Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia OMIM:616672
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mednik Syndrome
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... OMIM:609313
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Attention deficit hyperactivity disorder, Obesity ORPHA:261222
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Fatigue, Abdominal pain, Jaundice, Weight loss, Acholic stools, Ch... ORPHA:65682
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Trisomy 5P
Obesity ORPHA:1742
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen... ORPHA:77293
Nephronophthisis 16
Periportal fibrosis, Cholestasis OMIM:615382
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Proximal amyotrophy OMIM:604484
Chung-Jansen Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:617991
Ddost-Cdg
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis ORPHA:300536
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness OMIM:618124
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... OMIM:254090
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Primary hypercortisolism, Truncal obesity, Increased circulating cortiso... OMIM:219080
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... OMIM:617072
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... OMIM:609452
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac... ORPHA:228302
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:616812
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Large for gestational age, Decreased circulating free fa... ORPHA:324575
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Elevated circulating C-reactive protein concentration, Abdominal pain, Fl... ORPHA:49041
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Ragged-red muscle fibers, Myalgia, Elevated circulating creatine kinase con... OMIM:619024
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Orthostatic Hypotension 1
Hypomagnesemia, Weakness of facial musculature, Increased blood urea nitrogen OMIM:223360
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Increased circulating ferritin concentration, Abnormal serum iron concentration, Arthral... ORPHA:254704
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... ORPHA:731
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Exercise intolerance, Cholangitis, Microvesicula... OMIM:124000
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis, Left ve... OMIM:209900
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Abnormality of the musculature of the lower limbs, Obesity ORPHA:464282
Sitosterolemia 1
Hyperapobetalipoproteinemia, Abdominal pain, Elevated circulating sitosterol concentration, Splen... OMIM:210250
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... OMIM:277900
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... OMIM:617253
Werner Syndrome
Low back pain, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentratio... OMIM:277700
Carnitine Palmitoyltransferase Ii Deficiency
Exercise intolerance, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ... ORPHA:157
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Myopathy, Myofibrillar, 8
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:617258
Morm Syndrome
Truncal obesity ORPHA:75858
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis, Attention deficit hyperactivity disorder ORPHA:210548
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive OMIM:210200
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Short attention span, Facial hypotonia, Abdominal pain, Encopresis, Obesity, Decrea... ORPHA:589821
Dubin-Johnson Syndrome
Fatigue, Hepatomegaly, Abdominal pain, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abn... ORPHA:234
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity OMIM:614202
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Chanarin-Dorfman Syndrome
Myopathy, Hepatic steatosis, Hepatomegaly OMIM:275630
Mehmo Syndrome
Obesity ORPHA:85282
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating c... ORPHA:610
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Chest pain, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Hepatomegaly, Failure to thrive, Elevated circula... OMIM:256810
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:601539
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Myopath... OMIM:307030
Macrocephaly/Autism Syndrome
Short attention span, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth OMIM:605309
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis, Obesity OMIM:619471
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia OMIM:619313
14Q11.2 Microduplication Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:261229
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue, Increased body weight, Attention deficit hyperactivity disorder ORPHA:589905
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Obesity ORPHA:411515
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive ORPHA:2089
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Progressive neurologic deterioration, Hypoalbuminemia, Macrovesicu... OMIM:618329
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Pain, Facial hypotonia, Elevated circulating alpha-f... OMIM:615273
Hereditary Renal Hypouricemia
Back pain, Postexertional symptom exacerbation, Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, EMG: myopathic abnormalitie... ORPHA:57
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... ORPHA:79644
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Hyperlipidemia, Flexion contracture, Elbow flexion contracture, Camptod... OMIM:248370
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... OMIM:261515
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short attention span, Obesity, Tall stature OMIM:618089
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Abnormal circulating C-peptide co... ORPHA:552
Tangier Disease
Hypertriglyceridemia, Abdominal pain, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, L... ORPHA:31150
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Polymyositis
Fatigue, Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ... ORPHA:732
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Short attention span, Skeletal muscle atrophy, Hepatomegaly, Elevated hep... ORPHA:17
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Biemond Syndrome Type 2
Obesity ORPHA:141333
Pseudopseudohypoparathyroidism
Obesity, Cognitive impairment OMIM:612463
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Conjugated hyperbilirubinemia... OMIM:617156
Blue Diaper Syndrome
Elevated hepatic transaminase, Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Truncal obesity, Obesity OMIM:618363
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity OMIM:600955
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Clark-Baraitser Syndrome
Obesity OMIM:617752
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Splenomegaly, Abnormality of the liver, Hepatic fibrosis... ORPHA:84064
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Small for gestational age, Truncal obesity, Attention deficit hyperactivity... ORPHA:73272
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany OMIM:612462
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... ORPHA:206569
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
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity OMIM:618822
Rhizomelic Limb Shortening With Dysmorphic Features
Arthralgia, Obesity OMIM:618821
Monosomy 13Q34
Hepatic steatosis, Hypercalcemia, Obesity ORPHA:96168
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... OMIM:208500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:619518
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N... ORPHA:348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity ORPHA:314795
Adiposis Dolorosa
Fatigue, Memory impairment, Arthralgia, Obesity ORPHA:36397
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Schaaf-Yang Syndrome
Failure to thrive in infancy, Flexion contracture, Obesity, Camptodactyly, Arthrogryposis multipl... OMIM:615547
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity, Hypomimic face ORPHA:93952
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Retinitis Pigmentosa
Obesity ORPHA:791
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Hepatic fibrosis OMIM:613989
Intellectual Developmental Disorder, X-Linked 107
Obesity, Attention deficit hyperactivity disorder OMIM:301013
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Increased intramyocellular lipid droplets,... ORPHA:681
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue, Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder OMIM:274300
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Adams-Oliver Syndrome
Congenital hepatic fibrosis, Failure to thrive, Cirrhosis, Portal hypertension ORPHA:974
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Obesity, Cognitive impairment OMIM:103580
Idiopathic Intracranial Hypertension
Back pain, Obesity ORPHA:238624
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, I... ORPHA:565612
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Fatigue, Jaundice, Lipid accumul... ORPHA:20
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... ORPHA:1454
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Increased body weight OMIM:614450
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g... ORPHA:2959
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Overweight, Generalized limb muscle atrophy, Obesity, Distal amyotrophy, De... ORPHA:2822
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Primary hypercortisol... OMIM:610489
48,Xxyy Syndrome
Tall stature, Obesity, Attention deficit hyperactivity disorder ORPHA:10
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Short attention span, Obesity OMIM:619056
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... OMIM:606070
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Temple Syndrome
Small for gestational age, Obesity ORPHA:254516
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder ORPHA:284180
Chédiak-Higashi Syndrome
Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:167
15Q24 Microdeletion Syndrome
Failure to thrive, Small for gestational age, Obesity, Congenital diaphragmatic hernia ORPHA:94065
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... OMIM:231680
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Jaundice, Bicarbonaturia, Hyperurice... OMIM:229600
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Facial hy... ORPHA:404454
Meckel Syndrome 14
Cyanosis, Hepatic fibrosis OMIM:619879
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Wagr Syndrome
Obesity ORPHA:893
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity ORPHA:3085
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... OMIM:266920
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Flexion contracture, Wrist flexion contracture, Obesity OMIM:300055
Methanol Poisoning
Hyperlipidemia, Confusion, Abdominal pain ORPHA:31825
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Hepatomegaly, Progressive language deterioration, Obesity ORPHA:163681
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Diaphragmatic eventration, Microvesicular hepatic steatosis, Gener... ORPHA:66634
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity ORPHA:171839
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Skeletal muscle atrophy, ... OMIM:256040
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Skeletal muscle steatosis, Decreased liver function, Diffuse hepatic steatosis, Fai... ORPHA:436271
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Camptodactyly of finger, Obesity ORPHA:3409
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Short attention span, Skeletal muscle atrophy, Fatigue, Weakness o... ORPHA:273
Joubert Syndrome 1
Macroglossia, Hepatic fibrosis OMIM:213300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Macroglossia, Abdominal obesity OMIM:300354
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi... ORPHA:79102
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Insulinoma
Fatigue, Abnormality of the pancreatic islet cells, Transient global amnesia, Increased body weight ORPHA:97279
H Syndrome
Hepatosplenomegaly, Hypertriglyceridemia, Camptodactyly ORPHA:168569
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Hypokalemia, Obesity, Abdominal obesity OMIM:219090
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hyperlipidemia, Xanthelasma, ... OMIM:232200
Carpenter Syndrome
Obesity, Polysplenia ORPHA:65759
Bardet-Biedl Syndrome 9
Truncal obesity, Obesity OMIM:615986
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati... OMIM:619534
Retinitis Pigmentosa 51
Obesity OMIM:613464
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithiasis, Splenomegaly, J... OMIM:611881
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdominal pain, Incre... ORPHA:1501
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Obesity ORPHA:369837
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Laurence-Moon Syndrome
Obesity OMIM:245800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Exercise intolerance, Small for gestational age, Slender build, Po... OMIM:613658
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus... OMIM:607459
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity, Decreased muscle mass, Flexion contracture of digit ORPHA:3041
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia OMIM:200995
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exercise intolerance, Hepatomegaly, Decreased liver function, Increased intramyocellular lipid dr... OMIM:220110
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity ORPHA:2234
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Large for gestational age, Hypophospha... OMIM:616026
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Macroglossia, Hypoalbuminemia, Macrovesicular he... OMIM:617303
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic f... OMIM:218330
Perrault Syndrome 4
Disproportionate tall stature, Obesity, Cognitive impairment OMIM:615300
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Encopresis, Obesity OMIM:618443
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Hypo... ORPHA:699
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Increased circulating ferritin concentratio... OMIM:222700
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... OMIM:619127
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Obesity, Attention deficit hyperactivity disorder OMIM:619680
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Attention deficit hyperactivity disorder, Campt... OMIM:301039
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:615368
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Hyperlipidemia, Tendon xanthomatosis, Increased LDL cholesterol concentrati... ORPHA:391665
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Abdominal obesity, Flexion contracture, Hepatic steatosis OMIM:619321
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Increased body weight OMIM:615830
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Abdominal pain, Ragged-red muscle fibe... OMIM:603041
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Fatigue, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice ORPHA:99832
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Megalencephaly
Truncal obesity ORPHA:2477
Goodpasture Syndrome
Fatigue, Cyanosis, Weight loss, Chest pain, Increased blood urea nitrogen, Chills OMIM:233450
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Fatigue, Exercise intolerance, Facial palsy, Elevated circulating ... ORPHA:254892
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity diso... ORPHA:261197
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Arthralgia ORPHA:813
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Exercise intole... OMIM:611126
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Birth... OMIM:300868
Rabin-Pappas Syndrome
Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
Radio-Tartaglia Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:619312
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Hep... OMIM:620005
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Chronic fatigue, Obesity, Arthralgia, Chills ORPHA:91355
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Peripartum Cardiomyopathy
Fatigue, Abdominal pain, Obesity, Chest pain, Left ventricular hypertrophy ORPHA:563
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Bardet-Biedl Syndrome 17
Obesity, Cognitive impairment OMIM:615994
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder ORPHA:1001
Pseudohypoparathyroidism Type 1C
Calcinosis, Confusion, Obesity, Hyperphosphatemia, Chest pain, Hypocalcemia, Hypocalcemic tetany,... ORPHA:79444
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Leptin Receptor Deficiency
Obesity OMIM:614963
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:881
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity ORPHA:127
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Recurrent pancreatitis, Hypercholesterolemia, Fa... OMIM:606721
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhos... OMIM:301072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Short attention span, Torticollis, Failure to thrive, Back pain, F... OMIM:619475
Meningioma
Back pain, Decreased circulating cortisol level, Facial palsy, Urinary incontinence, Trigeminal n... ORPHA:2495
Metaphyseal Chondrodysplasia, Schmid Type
Arthralgia, Obesity ORPHA:174
Carpenter Syndrome 1
Joint contracture of the hand, Obesity, Polysplenia, Camptodactyly OMIM:201000
Insulin-Resistance Syndrome Type B
Fatigue, Abnormality of body weight, Abnormal circulating fatty-acid concentration, Biliary cirrh... ORPHA:2298
Atypical Werner Syndrome
Skeletal muscle atrophy, Hypertriglyceridemia, Calf muscle hypertrophy, Exercise-induced myalgia,... ORPHA:79474
Achondroplasia
Hypoxemia, Obesity ORPHA:15
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Jaundice, Episodic abdominal pain, Chest pain, Asthenia, Unconjugated hyper... ORPHA:447
Danon Disease
Myocardial necrosis, Exercise intolerance, Elevated circulating creatine kinase concentration, Lo... OMIM:300257
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis OMIM:616271
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
48,Xxxy Syndrome
Tall stature, Obesity, Attention deficit hyperactivity disorder ORPHA:96263
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Hepatitis, Weight loss,... OMIM:615846
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lower limb hypertonia, Obesity, Limb hypertonia OMIM:617296
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X... OMIM:232220
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts OMIM:311200
Alg9-Cdg
Hepatomegaly, Torticollis, Hypoplasia of the musculature, Periportal fibrosis, Hepatic cysts ORPHA:79328
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Disproportionate tall stature, Facial palsy, Abnormal muscle fiber morph... ORPHA:3068
Man1B1-Cdg
Truncal obesity ORPHA:397941
White-Sutton Syndrome
Failure to thrive, Facial hypotonia, Obesity, Congenital diaphragmatic hernia OMIM:616364
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Obesity ORPHA:98794
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelit... ORPHA:2072
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Hypercapni... OMIM:164310
Septo-Optic Dysplasia Spectrum
Fatigue, Obesity ORPHA:3157
Chronic Thromboembolic Pulmonary Hypertension
Fatigue, Elevated circulating C-reactive protein concentration, Obesity, Increased HDL cholestero... ORPHA:70591
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic... OMIM:203700
Familial Multiple Lipomatosis
Hyperlipidemia, Overgrowth ORPHA:199276
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Desbuquois Dysplasia 1
Obesity OMIM:251450
Angelman Syndrome
Macroglossia, Obesity OMIM:105830
Bloom Syndrome
Small for gestational age, Hepatic steatosis, Elevated hemoglobin A1c OMIM:210900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis OMIM:263520
Pde4D Haploinsufficiency Syndrome
Obesity ORPHA:439822
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Attention deficit hyperactivity dis... ORPHA:534
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Abnormal circulating lipid concentration, Cognitive impairment OMIM:616541
Den Hoed-De Boer-Voisin Syndrome
Overweight, Short attention span, Obesity, Decreased body weight OMIM:619229
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... OMIM:309000
Pseudohypoparathyroidism Type 1A
Calcinosis, Confusion, Obesity, Hyperphosphatemia, Chest pain, Hypocalcemia, Hypocalcemic tetany,... ORPHA:79443
Johanson-Blizzard Syndrome
Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot... OMIM:243800
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Failure to thrive, Obesity ORPHA:96147
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Kleefstra Syndrome 1
Macroglossia, Obesity OMIM:610253
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Hepatomegaly, Periportal fibrosis OMIM:269860
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Unco... OMIM:618278
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Obesity, Abdominal obesity, Attention defici... OMIM:176270
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity ORPHA:404443
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Urinary incontinence, Portal h... ORPHA:64
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Cohen Syndrome
Small for gestational age, Facial hypotonia, Childhood-onset truncal obesity OMIM:216550
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Webb-Dattani Syndrome
Hypernatremia, Obesity OMIM:615926
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Cyanosis, Hyperlipidemia, Hyperkalemia, Obesity ORPHA:293987
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Down Syndrome
Macroglossia, Obesity ORPHA:870
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Cachexia, Obesity ORPHA:85293
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit h... OMIM:619934
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Slender build, Camptodactyly of finger, Confusion, Skeletal muscle hypertro... ORPHA:3455
Cushing Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... ORPHA:96253
Bdv Syndrome
Obesity OMIM:619326
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Elevated circul... ORPHA:116
Kleefstra Syndrome
Macroglossia, Obesity, Bowel incontinence ORPHA:261494
Sotos Syndrome
Increased body weight, Overgrowth, Attention deficit hyperactivity disorder, Prolonged neonatal j... OMIM:117550
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de... OMIM:270400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Failure to thrive, Small for gestational age, Pancreatitis ORPHA:1830
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
White-Sutton Syndrome
Facial hypotonia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Hellp Syndrome
Elevated hepatic transaminase, Back pain, Fatigue, Shoulder pain, Abdominal pain, Increased body ... ORPHA:244242
Aapoaiv Amyloidosis
Back pain, Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Obesity ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Abdominal obesity, Cognitive impairment, Failure to t... ORPHA:398069
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Obesity, Progressive neurologic deterioration OMIM:614947
Insulin-Like Growth Factor I, Resistance To
Truncal obesity, Decreased body weight OMIM:270450
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular ca... OMIM:232240
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Distal Deletion 12Q
Failure to thrive in infancy, Elbow flexion contracture, Biliary atresia, Obesity, Congenital hyp... ORPHA:96149
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Small for gestational age, Flexion contracture, Generalized amyotrophy, Fai... OMIM:264090
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Arthralgia ORPHA:90153
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the spleen, Obesity, Myopathy, Abnormality of the liver, ... ORPHA:1606
Chops Syndrome
Splenomegaly, Obesity OMIM:616368
Angelman Syndrome
Obesity ORPHA:72
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Hyperlipidemia, Hypoalbuminemia, Abdominal pain ORPHA:567546
Cohen Syndrome
Failure to thrive in infancy, Obesity ORPHA:193
Narcolepsy 7
Obesity OMIM:614250
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Camptodactyly of finger, Obesity ORPHA:3138
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Wagro Syndrome
Obesity OMIM:612469
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity, Attention deficit hyperactivity disorder ORPHA:466950
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Hepatic steatosis, Portal hypertension, Flexion contracture, Elbow flexion contr... OMIM:619503
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity, Attention deficit hyperactivity disorder OMIM:616078
22Q11.2 Deletion Syndrome
Bowel incontinence, Splenomegaly, Obesity, Myalgia, Hypocalcemia, Attention deficit hyperactivity... ORPHA:567
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression ... ORPHA:99889
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Small for gestational age, Obesity ORPHA:98754
Fabry Disease
Fatigue, Abdominal pain, Hyperlipidemia, Arthralgia, Myalgia, Cognitive impairment, Left ventricu... ORPHA:324
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
7Q11.23 Microduplication Syndrome
Obesity, Congenital diaphragmatic hernia ORPHA:96121
Prader-Willi Syndrome Due To Translocation
Obesity, Attention deficit hyperactivity disorder ORPHA:177907
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Obesity ORPHA:98793
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Microvesicular hepatic steatosis, Hyperammonemia, Left ventricular hyp... OMIM:220111
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Obesity ORPHA:177901
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Digeorge Syndrome
Splenomegaly, Obesity, Hypocalcemia, Attention deficit hyperactivity disorder, Cholelithiasis, He... OMIM:188400
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Failure to thrive, Obesity ORPHA:369950
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Obesity, Truncal obesity, Attention deficit hyperactivity disorder, Failure to thrive OMIM:615873
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Tako-Tsubo Cardiomyopathy
Obesity, Chest pain, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concent... ORPHA:66529
Xq21 Microdeletion Syndrome
Upper limb muscle weakness, Abnormality of the Achilles tendon, Obesity ORPHA:1435
Kallmann Syndrome
Obesity ORPHA:478
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Jaundice, Obesity OMIM:614231
Ogden Syndrome
Torticollis, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Hyperb... OMIM:300855
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:466943
Kabuki Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Myhre Syndrome
Small for gestational age, Generalized muscle hypertrophy, Obesity, Skeletal muscle hypertrophy, ... OMIM:139210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Attention deficit hyperactivity disorder ORPHA:739
White-Kernohan Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:619426
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Reduced thyroxin-binding globulin, Ab... ORPHA:79318
Retinitis Pigmentosa 74
Obesity OMIM:616562
Williams Syndrome
Failure to thrive in infancy, Elevated circulating creatine kinase concentration, Hypercalcemia, ... ORPHA:904
Williams-Beuren Syndrome
Short attention span, Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Flexion c... OMIM:194050
Adnp Syndrome
Truncal obesity, Urinary incontinence, Attention deficit hyperactivity disorder ORPHA:404448
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity OMIM:618653
Craniopharyngioma
Obesity ORPHA:54595
Rubinstein-Taybi Syndrome 1
Accessory spleen, Short attention span, Small for gestational age, Flexion contracture, Truncal o... OMIM:180849
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Obesity ORPHA:444077
45,X/46,Xy Mixed Gonadal Dysgenesis
Muscle hypertrophy of the lower extremities, Obesity ORPHA:1772
Witteveen-Kolk Syndrome
Fatigue, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture of the ... OMIM:613406
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short attention span, Failure to thrive, Obesity OMIM:617157
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity OMIM:619269
Bloom Syndrome
Abdominal obesity, Small for gestational age ORPHA:125
Carpenter Syndrome 2
Diaphragmatic eventration, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Carney Complex
Neoplasm of the pancreas, Increased body weight, Increased circulating cortisol level, Abdominal ... ORPHA:1359
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Social and occupational deterioration, Failure to thrive, Obesity ORPHA:353281
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy ORPHA:529962
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Elevated circulating alpha-fetoprotein concentration, F... OMIM:259050
Woodhouse-Sakati Syndrome
Mental deterioration, Hyperlipidemia ORPHA:3464
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Social and occupational deterioration, Failure to thrive, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Social and occupational deterioration, Failure to thrive, Obesity ORPHA:353277
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Monosomy 22Q13.3
Obesity ORPHA:48652
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Camptodactyly of finger, Camptodactyly OMIM:607872
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia, Attention deficit hyperactiv... ORPHA:199
Ulnar-Mammary Syndrome
Elbow flexion contracture, Obesity OMIM:181450
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive, Camptodactyly OMIM:612474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Macroglossia, Lower limb hypertonia, Obesity OMIM:309580
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Obesity, Macroglossia, Camptodactyly of 2nd... 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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