Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sirtuin 7
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sirt7 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 Sirt7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Spleno... OMIM:300635
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated circulating alkaline ... OMIM:616829
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Eosinophilia, Jaundice OMIM:234350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Cardiomyopathy,... OMIM:608099
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Sple... OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia OMIM:613877
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lys... OMIM:278000
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia OMIM:610717
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Cyanosis And Hepatic Disease
Hepatitis, Abnormal abdomen morphology OMIM:219400
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Reduced subcutaneous adipose tiss... ORPHA:280356
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemoly... ORPHA:444463
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Splen... OMIM:607765
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Decre... OMIM:301045
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Hepatitis, Anemia, Splenomegaly, Decreased liver function, Elevated ci... ORPHA:158061
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Obesity OMIM:615703
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hepatic failure, Pancytopenia OMIM:617872
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase OMIM:617093
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Polyphagia, Hypertriglyceridemia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Ascites, Failure to thrive, Cirrhosis, Cholestasis, Hepatic fai... OMIM:617156
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Back pain, Rimme... OMIM:300696
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Failure to thrive, Splenomegaly OMIM:269840
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevat... OMIM:214900
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... ORPHA:63273
Rft1-Cdg
Failure to thrive, Hepatomegaly, Arthrogryposis multiplex congenita ORPHA:244310
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hypertriglyceridemia, Sea-blue histiocytosis OMIM:607616
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Polyphagia, Failure to thrive, Cholestasis, Obesity, Childhood-onset tr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Polyphagia, Failure to thrive, Cholestasis, Obesity, Childhood-onset tr... ORPHA:71526
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Kyphosis, Spinal rigi... OMIM:300718
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Failure to thrive, Anemia, Hepatic steatosis, Acute hepatic fail... OMIM:615438
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Failure to thrive secondary to recurrent infections, Splenomegal... OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Hypertriglyceridemia, Skin rash,... OMIM:603552
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive OMIM:613861
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Cholelithiasis, Spleno... ORPHA:567983
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Left ventricular hypertrophy, Hepatic steatosis, Elevated circul... OMIM:619048
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Lipodystrophy, Hepatic steatosis, Increased intraabdominal fat, Hyp... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Lipodystrophy, Pancre... ORPHA:435651
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive OMIM:618234
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipo... OMIM:608600
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas ORPHA:2398
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Lymphocytosis ORPHA:79087
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Hyperlipoproteinemia, Type Id
Failure to thrive, Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Decreased liver function, Hepatic steatosis, Cholestasis, Ele... OMIM:614300
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Elevated gamma-glutamyltransferase... OMIM:614582
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Lipodystrophy, Increa... ORPHA:435660
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... ORPHA:79301
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Lipoatrophy, Pancreatitis, Hepatic steatosis ORPHA:79084
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Failure to thrive, Hepatitis, Cirrhosis, Colitis OMIM:614602
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase OMIM:264470
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Spinal ri... OMIM:609308
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy, Abdominal obesity OMIM:615980
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardi... OMIM:255100
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Mildly elevated creatine kinase,... OMIM:614065
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... ORPHA:206546
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis, Polyphagia OMIM:609734
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Reduced subcutaneous adipose tissue,... OMIM:604367
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Lipodystrophy, Hepatic steatosis, Hypertriglyceridemia, Flexion contracture, Elevat... OMIM:615381
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Splenomegaly, Steatorrhea, Elevated circulating alkaline phospha... OMIM:235555
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, General... ORPHA:363400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Failure to thrive, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Failure to thrive, Increased hepatocellular lipid droplets, ... ORPHA:71
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Autosomal Agammaglobulinemia
Sinusitis, Neutropenia, Bronchiectasis, Failure to thrive, Chronic otitis media, Hepatitis, Arthr... ORPHA:33110
Galactose Mutarotase Deficiency
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis, Abnormal enzyme/coenzyme ... ORPHA:570422
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Failure to thrive secondary to recurrent infections, Chronic oral candid... ORPHA:169160
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Elevated hepatic ... OMIM:619013
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis, Elevated hepatic transaminase, Transient hyperlipi... OMIM:255120
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Ethanolaminosis
Cardiomegaly OMIM:227150
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... ORPHA:848
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Failure to thrive, Depletion of mitochondrial DNA... OMIM:251880
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Chronic otitis ... ORPHA:47
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia ORPHA:1980
Immunodeficiency 56
Cholangitis, Bronchiectasis, Failure to thrive, Recurrent otitis media, Cirrhosis, Recurrent pneu... OMIM:615207
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Failure to thrive OMIM:615895
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Woolly hair, Sudden cardiac death, Right ventricul... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Osteoarthritis OMIM:606069
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Leukocytosis, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Neutro... ORPHA:829
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Ascites, Fulmi... ORPHA:2137
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Failure to thrive, Hep... ORPHA:370
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... OMIM:256810
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Weight loss, Splenomegaly ORPHA:79238
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Elevated circulating c... OMIM:160500
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... OMIM:609500
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Splenomegaly, Jaundice, ... ORPHA:1414
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis ORPHA:26792
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Galactosemia Iii
Jaundice, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:230350
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Right ventricular hypertrophy, Failure to thrive, Arthrogryposis multiplex ... OMIM:613404
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Camptodactyly of finger, Jaundice OMIM:214980
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Failure to thrive, Hepatitis, Splenomega... OMIM:308230
Porphyria Cutanea Tarda
Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Corneal scarring, Chroni... ORPHA:101330
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive ORPHA:300536
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Failure to thrive, Myositis, Fasciit... ORPHA:39812
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Inte... OMIM:611182
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Failure to thrive, Cardiomegaly, Hepatic steato... OMIM:212140
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Macrosomia Adiposa Congenita
Obesity, Eosinophilia, Polyphagia, Large for gestational age OMIM:248100
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Congenital Generalized Lipodystrophy
Hepatomegaly, Failure to thrive, Lipodystrophy, Adipose tissue loss, Cirrhosis, Hepatic steatosis... ORPHA:528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Failure to thrive, Hepatocellular adenoma, Anemi... ORPHA:264580
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis ORPHA:139491
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Elevated hepatic transaminase, Increased body weight, Jaundice ORPHA:890
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Pancreatitis, Splenome... ORPHA:2348
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,... ORPHA:444490
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Polyphagia, Large for gestational age ORPHA:276556
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Elevated circulating creatine kinas... ORPHA:86812
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Failure to thrive, Lipodystrophy, Panniculitis, Anemia, Arthri... OMIM:617591
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipo... OMIM:151660
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Polyphagia, Focal pancreatic islet hyperplasia, Large for gestational age, Diffuse ... ORPHA:276575
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis ORPHA:363523
Distal Myotilinopathy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber myotilin, EMG: myopathi... ORPHA:98911
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Autophagic vacuoles, Facial diplegia, Cardiom... ORPHA:399058
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Wolman Disease
Hepatomegaly, Cachexia, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Hepat... ORPHA:75233
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Generalized amyo... OMIM:612954
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Failure ... OMIM:304790
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy OMIM:617336
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Polyphagia, Large for gestational age ORPHA:324575
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Failure to thrive, Decreased liver function, Hepatic steatosis, Abnormal enzyme/coenzy... ORPHA:70472
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Reduced intrathoracic adipose tissue, Lipodystrophy, Reduced subcutaneo... OMIM:608594
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... ORPHA:98912
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Failure to thrive, Anemia, Splenomegaly, Steatorrhea, Skin rash,... OMIM:612714
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis, Decreased circulating cortisol level ORPHA:199296
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase conce... ORPHA:34515
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Cholestatic... ORPHA:440713
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Congenital Enterovirus Infection
Fetal ascites, Leukocytosis, Myocarditis, Neutropenia, Infectious encephalitis, Leukopenia, Hepat... ORPHA:292
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Elevated circulating creatine kinase concentrat... OMIM:600175
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:796
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Polyphagia, Large for gestational age ORPHA:276580
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Calf musc... OMIM:300376
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis, Failure to thrive OMIM:614924
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Failure to thrive, Lipodystrophy, Splenomegaly, Hepatic steatosis, Hyper... OMIM:613327
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Hepatitis, Splenomegaly, Thrombocytopenia, Abnormality of neut... ORPHA:381
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele... OMIM:619386
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hyperlipidemia OMIM:232400
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, Hepatic st... ORPHA:42
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Primary Lipodystrophy
Hyperlipidemia, Lipodystrophy, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Lipoatrophy ORPHA:90970
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy, Fusion of midcervical facet jo... OMIM:606842
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Foot dorsiflexor weakness, Scoliosis, Kyphosis OMIM:617087
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Right ventricular hypertrophy, Failure to thrive, Arthrogryposis multiplex ... OMIM:208085
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Reduced intrathoracic adipose tissue, Lipodystrophy, Reduced subcutaneo... OMIM:269700
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Neutropenia, Infectious encephalitis, Colitis, Failure to thrive, Chronic mucocutane... OMIM:209920
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Dysphagia, Failure to thrive, Sideroblastic anemia, Elevated hepatic transaminase OMIM:613561
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Thr... OMIM:300972
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Lipoatrophy... ORPHA:154
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Pancreatitis, Splenomegaly, Cirrhosis... ORPHA:79083
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Dysphagia, Weight loss, Ascites ORPHA:2198
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hepatomegaly ORPHA:67046
Spastic Paraplegia 18, Autosomal Recessive
Skeletal muscle atrophy, Scoliosis, Lower limb muscle weakness, Kyphosis OMIM:611225
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Elevated circula... OMIM:255160
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Chronic hepatitis, Iron deficiency anemia, Hepatitis, Chronic mucocutaneous candidiasis... OMIM:269200
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Failure to thrive in infancy, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:228426
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Increased circulating lactate dehyd... OMIM:600649
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Interstitial Lung And Liver Disease
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Failure to thrive, Anemia, Elevated gamma-glutamy... OMIM:615486
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... OMIM:604286
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Acute hepatitis, Failure to thrive OMIM:238970
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:572
Melioidosis
Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ... ORPHA:31202
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... OMIM:619402
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Bethlem Myopathy 2
Myopathy, Elevated circulating creatine kinase concentration, Atrophic scars, Kyphosis, Flexion c... OMIM:616471
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Intrahepatic cholestasis OMIM:605814
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Elevated circulating alkaline phosphata... OMIM:613489
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Failure to thrive, Amelogenesis imperfecta, Elevated hepatic transaminase, Thromboc... OMIM:614727
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98855
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Fulminant hepatitis, Splenomegaly, Lymphocyto... OMIM:308240
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentrat... OMIM:608810
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Patent ductus arteriosus, Hypoplastic left heart, Scoli... OMIM:616276
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Cholestasis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618528
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Pediatric-Onset Graves Disease
Hepatomegaly, Episcleritis, Polyphagia, Neutropenia in presence of anti-neutropil antibodies, Pol... ORPHA:525731
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatitis, Cardi... OMIM:614921
Leptin Deficiency Or Dysfunction
Obesity, Recurrent pneumonia, Abnormal eating behavior, Polyphagia OMIM:614962
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Anemia, Spleno... ORPHA:158057
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular... OMIM:612999
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98853
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Weight loss, Anemia, Splenomegaly ORPHA:100024
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture, Scoliosis OMIM:201470
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Elevated circ... OMIM:601847
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Mildly elevated creatine kinase... ORPHA:171442
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Flexion contracture, Splenomegaly ORPHA:77260
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Spinal canal stenosis, Tendon rupture, Reduced ... ORPHA:85451
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Weight... ORPHA:781
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase OMIM:613490
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia OMIM:618752
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphology, Hepatic steatosis, Hypertr... ORPHA:98907
Cog7-Cdg
Hepatomegaly, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Elevated hepatic ... ORPHA:79333
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Enamel hypop... OMIM:243150
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Ascites, Cardiomegaly, Anemia, Elevated hepatic trans... ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia, Colitis, Hemoph... OMIM:613101
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Failure to thrive, Left ventricular hypertrophy, Elevated hepatic trans... OMIM:616974
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98863
Dysbetalipoproteinemia
Hepatomegaly, Gout, Hypercholesterolemia, Hepatic steatosis, Xanthelasma, Acute pancreatitis, Hyp... ORPHA:412
Mast Cell Sarcoma
Hepatomegaly, Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Wilson Disease
Hepatomegaly, Dysphagia, Chondrocalcinosis, Hepatocellular carcinoma, Osteoarthritis, Cirrhosis, ... OMIM:277900
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... OMIM:611705
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Acquired Generalized Lipodystrophy
Hepatomegaly, Panniculitis, Generalized lipodystrophy, Cirrhosis, Hepatic steatosis, Acute pancre... ORPHA:79086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Elevated circulating creatine kinase concentration, Macroglossia, Facial palsy, Cardiomyopathy, C... OMIM:613155
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Tubulointerstitial nephritis, Nephritis, Truncal obesity,... OMIM:203800
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Elevated circul... OMIM:619484
Secondary Short Bowel Syndrome
Polyphagia, Failure to thrive, Weight loss, Steatorrhea, Cholestasis, Enterocolitis ORPHA:95427
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Uruguay Faciocardiomusculoskeletal Syndrome
Mitral regurgitation, Elevated circulating creatine kinase concentration, Ventricular hypertrophy... OMIM:300280
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Leishmaniasis
Hepatomegaly, Pancytopenia, Leukopenia, Rhinitis, Weight loss, Anemia, Splenomegaly, Abnormal mac... ORPHA:507
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Splenomegaly, Abnormality of the liver, Vira... ORPHA:91138
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal intervertebral disk morphology, Platyspondyly... ORPHA:1345
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal form of the vertebral bodie... ORPHA:1354
Hurler-Scheie Syndrome
Hepatomegaly, Spinal canal stenosis, Abnormal vertebral morphology, Cardiomyopathy, Hernia, Splen... ORPHA:93476
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Hyperpigmentation of the skin, Cardiomyopathy, Splenomegaly... OMIM:602390
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... ORPHA:131
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Flex... ORPHA:98896
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly, Decreased beta-glucocerebrosidase level, Pancytopenia, Thrombocytopen... OMIM:231000
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Farber Lipogranulomatosis
Hepatomegaly, Failure to thrive, Arthritis, Splenomegaly, Lipogranulomatosis, Decreased acid cera... OMIM:228000
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Congenital Disorder Of Glycosylation, Type In
Failure to thrive, Hepatomegaly OMIM:612015
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Failure to thrive, Anemia, Splenomegaly,... OMIM:230900
Indolent Systemic Mastocytosis
Hepatomegaly, Elevated total serum tryptase, Abnormal mast cell morphology, Splenomegaly, Skin ra... ORPHA:98848
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepatic steatosis, Hepatic failure,... ORPHA:228305
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Failure to thrive, Neutrophilia, Acute hepatic failure, Hepatosplenome... OMIM:619644
Ebola Hemorrhagic Fever
Dysphagia, Leukopenia, Hepatitis, Lymphopenia, Acute pancreatitis, Maculopapular exanthema, Throm... ORPHA:319218
Medullary Thyroid Carcinoma
Weight loss, Dysphagia, Abnormal liver parenchyma morphology ORPHA:1332
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight lo... ORPHA:53035
Nemaline Myopathy 3
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, Arthrogryposis multiplex congenita, M... OMIM:161800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutropil anti... ORPHA:37042
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Bone-marrow foam cells, Hepatos... ORPHA:275761
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Weight loss, Anemia, Cirrhosis, Macrovesicular hepatic steatosis, Elevated h... ORPHA:298
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Weight loss, Arthritis, Splenomegaly ORPHA:42642
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Abnormal enzyme/coenzyme activit... ORPHA:79095
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, H... ORPHA:186
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormality of neutrophils ORPHA:111
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis, Pancreatitis, Spleno... ORPHA:549
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Hepatitis, Splenomegaly, Hypersplenism, Camptodactyly... OMIM:613385
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:98293
Myofibrillar Myopathy 10
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Increased QRS volt... OMIM:619040
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Hypocholesterolemia, Failure to thrive, Abnormal ... OMIM:212065
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis OMIM:300752
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Dysphagia, Failure to thrive OMIM:618958
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to t... OMIM:300400
Protoporphyria, Erythropoietic, 1
Eczema, Cholelithiasis, Hypertriglyceridemia, Hepatic failure, Hemolytic anemia OMIM:177000
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... OMIM:615084
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Cog4-Cdg
Failure to thrive in infancy, Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, He... ORPHA:263501
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipo... ORPHA:280365
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia, Camptodactyly OMIM:618453
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA dehyd... OMIM:231530
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age OMIM:617119
Immunodeficiency, Common Variable, 1
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Muscular dystrophy, Cardiomyopathy, Hypoglyco... OMIM:615352
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscu... OMIM:310200
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Transient hyperlipidemia, Hepatic failure ORPHA:156
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Myopathy, Myofibrillar, 4
Elevated circulating creatine kinase concentration, Autophagic vacuoles, EMG: myopathic abnormali... OMIM:609452
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Thro... OMIM:610333
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiom... OMIM:617713
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Failure to thrive, Hypercholesterolemia, Hepatosplenomeg... ORPHA:79237
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Skin rash, Splenomegaly OMIM:105200
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hepatomegaly, Anemia ORPHA:28
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function OMIM:246900
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic ... ORPHA:231226
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Macronodular cirrho... OMIM:619418
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Elevated circulating creatine... OMIM:616827
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Myasthenia Gravis
Dysphagia, Myositis, Hepatitis, Pure red cell aplasia, Rheumatoid arthritis, Hashimoto thyroiditi... ORPHA:589
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Memb... OMIM:615559
Aspergillosis
Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli... ORPHA:1163
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613874
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Vertebral fusion, Elevated circulating cre... OMIM:607155
Avian Influenza
Infectious encephalitis, Leukopenia, Pneumonia, Hepatitis, Increased circulating lactate dehydrog... ORPHA:454836
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea, Failure to thrive OMIM:266510
Hemochromatosis, Type 3
Neutropenia, Hyperpigmentation of the skin, Anemia, Cardiomyopathy, Increased circulating ferriti... OMIM:604250
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Erythroderma, Infectious encephalitis, Anemia, Splenomegaly, Decreased... ORPHA:540
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Increased circulating myelocyte count, Infectious encephalitis, Pneumonia... ORPHA:36234
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia ORPHA:329249
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Failure to thrive, Hepatic necrosis, Increased c... ORPHA:71212
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kin... ORPHA:262
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Pericarditis, Hepatic fibrosis, Ascites, Failure to thrive, Weigh... OMIM:619487
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Hepatomegaly, Thrombocytopenia, Ascites, Small for gestational age, El... OMIM:619573
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Weight loss ORPHA:50251
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Knee flexion contracture, Hepatic steatosis, H... ORPHA:79322
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Rimmed vacu... OMIM:612937
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribution, Increased c... ORPHA:189439
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Obesity Due To Congenital Leptin Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia ORPHA:66628
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Scarring alopecia of scalp, Splenomegaly, Choles... ORPHA:59303
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia OMIM:618406
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly OMIM:608540
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:619481
Lichen Planopilaris
Hepatitis ORPHA:525
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... ORPHA:2088
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Cholestasis, Jaundice OMIM:614887
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:261680
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:207750
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Splenomegaly OMIM:121300
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated creatine kinase ... ORPHA:263494
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... OMIM:147480
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Neutropenia, Skeletal myopathy, Endocardial ... OMIM:302060
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia ORPHA:179494
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Failure to thrive in infancy, Anemia, Elevated gamma-glutamyltransferase level, Hyp... ORPHA:247598
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyop... ORPHA:263297
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Periodon... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic failure OMIM:602579
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Hepatic steatosis, Acute hepatic failure, Increased circulating lactate dehydr... ORPHA:99901
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Dorsocervical fat pad, Increased circulating cortisol level, Acne, Paradoxical in... ORPHA:189427
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Eleva... ORPHA:352447
Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Ventricular hypertrophy, Atrial fibrillation OMIM:613690
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia... OMIM:618999
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Shashi-Pena Syndrome
Highly arched eyebrow, Atrial septal defect, Scoliosis, Kyphosis OMIM:617190
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly OMIM:618852
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal enzyme/coen... ORPHA:79319
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopath... OMIM:619424
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... OMIM:211600
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Elevated circulating cre... ORPHA:206559
Microsporidiosis
Brain abscess, Cholangitis, Sinusitis, Myocarditis, Hepatitis, Infectious encephalitis, Lymphaden... ORPHA:2552
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Hepatic steatosis, Necrotizing enterocolitis... OMIM:201475
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Normocytic anemia, Failure to thrive, Weight loss, Hepatitis, Hashimoto thyroi... ORPHA:199299
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Torticollis... ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Cervical C2/C3 vertebral fusion, Cardiomyopathy, Nemaline bodies, Flexion contracture, ... OMIM:616549
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure, Woolly hair ORPHA:65282
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Thrombocytopenia, Hepatic failure OMIM:611126
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, EBV encephalitis, Splenomegaly, Hepatosplenomegaly, Uveitis, Recurrent pne... OMIM:615122
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Majeed Syndrome
Inflammatory abnormality of the skin, Hepatomegaly, Leukocytosis, Cachexia, Abnormal inflammatory... ORPHA:77297
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive ORPHA:2089
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Erythroderma, Pneumonia, Failure to thrive, Hypoplasia of the th... OMIM:603554
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Steatorrhea, Flexion contra... OMIM:616263
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... OMIM:271530
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, I... ORPHA:824
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Jaun... ORPHA:108
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Graves Disease, Susceptibility To, 1
Weight loss, Polyphagia, Abnormal abdomen morphology OMIM:275000
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Esophagitis, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepatic failur... ORPHA:541423
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weakness, Cardiomyopathy, Ab... ORPHA:329336
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Failure to thrive, Anemia, Decreased liver function, Cholestasis, Camptoda... OMIM:608104
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Anemia, Arthritis, Splenomegaly, Skin rash ORPHA:37748
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Left Ventricular Noncompaction 10