Gene Summary

Name:
autocrine motility factor receptor
Synonyms:
gp78

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating alanine transaminase level Amfrtm1a(KOMP)Wtsi HOM Early adult 9.01×10-07
decreased locomotor activity Amfrtm1a(KOMP)Wtsi HET Early adult 2.41×10-05
abnormal behavior Amfrtm1a(KOMP)Wtsi HOM Early adult 3.89×10-05
decreased circulating total protein level Amfrtm1a(KOMP)Wtsi HOM Early adult 1.82×10-07
abnormal behavior Amfrtm1a(KOMP)Wtsi HET Early adult 1.03×10-05
decreased lactate dehydrogenase level Amfrtm1a(KOMP)Wtsi HOM Early adult 1.31×10-06
increased bone mineral density Amfrtm1a(KOMP)Wtsi HOM Early adult 2.46×10-05
decreased circulating cholesterol level Amfrtm1a(KOMP)Wtsi HOM Early adult 6.23×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 50% (1 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood vessel 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
eye 0.0%
gall bladder 0.0%
heart 0.17% (1 of 576)
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
peripheral nervous system 0.17% (1 of 584)
peyer's patch 0.59% (1 of 169)
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 585)
uterus 0.35% (2 of 571)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 166 images

Human diseases caused by Amfr 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 Amfr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... OMIM:617156
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... OMIM:619658
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... ORPHA:79301
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Sea-Blue Histiocyte Disease
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspa... OMIM:269600
Porphyria Cutanea Tarda, Type I
Eczema, Hepatic fibrosis OMIM:176090
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Large for gestational age, Truncal obesity ORPHA:293964
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:613812
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... OMIM:214900
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis OMIM:613313
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma OMIM:176100
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular ca... ORPHA:369
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... OMIM:616278
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Bronchiectasis OMIM:613490
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... OMIM:619902
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Immunodeficiency 56
Failure to thrive, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis... OMIM:615207
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Arthritis, Eleva... ORPHA:905
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:601847
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul... OMIM:619662
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... OMIM:603471
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... OMIM:607765
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... ORPHA:79302
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, A... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transami... OMIM:214950
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Eczema, Cirrhosis ORPHA:79278
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, ... OMIM:619484
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:613489
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu... OMIM:256810
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hemochromatosis, Type 4
Cirrhosis, Osteoarthritis, Hepatic steatosis, Hepatomegaly OMIM:606069
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membra... OMIM:619858
Citrullinemia, Type Ii, Neonatal-Onset
Cirrhosis, Failure to thrive, Intrahepatic cholestasis OMIM:605814
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Leukemia, Myeloid leukemia OMIM:614743
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormality, Portal hypert... ORPHA:1414
Senior-Loken Syndrome 9
Obesity, Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Gracile Syndrome
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis ORPHA:53693
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Complement Component 4B Deficiency
Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media OMIM:614379
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... ORPHA:567983
Coach Syndrome 2
Elevated hepatic transaminase, Hepatic fibrosis, Portal fibrosis, Congenital hepatic fibrosis OMIM:619111
Interstitial Lung Disease 2
Cirrhosis, Alveolar cell carcinoma OMIM:178500
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Hemochromatosis, Type 2A
Cirrhosis, Arthritis, Hepatomegaly, Splenomegaly OMIM:602390
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Budd-Chiari Syndrome
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic ... OMIM:211600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis OMIM:614602
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly OMIM:232400
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Splenomegaly, Recurrent skin infections, Inflammation of the... OMIM:300635
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis OMIM:615703
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Elevate... OMIM:616860
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hep... ORPHA:79319
Galactosemia I
Decreased liver function, Failure to thrive, Hepatomegaly, Cirrhosis, Elevated circulating aspart... OMIM:230400
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Elevated circulat... ORPHA:30391
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Hemochromatosis, Type 3
Cirrhosis, Arthritis, Elevated hepatic transaminase OMIM:604250
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Glycogen Storage Disease Iv
Failure to thrive, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Portal hypertension OMIM:232500
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Jaundice, Biliary cirrhosis OMIM:215600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Cholestasis, Elevated hepatic transaminase, Portal f... OMIM:614300
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase co... OMIM:617049
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:619048
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated gamm... OMIM:619481
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly ORPHA:101028
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis OMIM:602579
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Hepatic fibrosis, Obesity OMIM:615630
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Cog4-Cdg
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:263501
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis ORPHA:2377
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Elevated hepatic transaminase, Congenital hepatic f... ORPHA:79230
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Transaldolase Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, ... OMIM:606003
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... ORPHA:79303
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Galactosemia
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhosis, A... ORPHA:352
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate amino... OMIM:615486
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic ... OMIM:618805
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis ORPHA:26792
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... ORPHA:562639
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepa... ORPHA:370
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Increased body weight, Hepatomegaly, Jaundice ORPHA:890
Nephronophthisis 15
Obesity, Hepatic failure OMIM:614845
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
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
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia ORPHA:398063
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosple... ORPHA:367
Immunodeficiency 61
Arthritis, Recurrent sinusitis, Colon cancer, Recurrent otitis media, Obesity OMIM:300310
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia OMIM:610539
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Small for gestational age OMIM:215250
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Incr... ORPHA:264580
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... ORPHA:101330
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis OMIM:609734
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transami... OMIM:242150
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Myelodysplasia, Myeloid leukemia OMIM:614742
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Nephronophthisis 16
Periportal fibrosis, Cholestasis OMIM:615382
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:615415
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Primary Biliary Cholangitis
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatocellul... ORPHA:186
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Keratoconjunctivitis, H... OMIM:269200
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis... ORPHA:33110
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Weight loss ORPHA:298
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Pheochromocytoma, Neoplasm of the lung, Weight loss, Neoplasm of the... ORPHA:1332
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase OMIM:235200
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... OMIM:300972
Carcinoma Of Esophagus
Esophageal neoplasm, Weight loss, Obesity, Barrett esophagus ORPHA:70482
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Elev... OMIM:611182
Reynolds Syndrome
Hepatomegaly, Skin rash, Cirrhosis, Arthritis, Infectious encephalitis, Keratoconjunctivitis sicc... ORPHA:779
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... ORPHA:480520
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepat... OMIM:308230
Congenital Generalized Lipodystrophy
Failure to thrive, Hepatomegaly, Proportionate tall stature, Cirrhosis, Hepatic steatosis ORPHA:528
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis OMIM:604367
Adenocarcinoma Of The Esophagus
Obesity, Esophageal carcinoma, Barrett esophagus ORPHA:99976
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:614576
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis OMIM:613987
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis OMIM:615980
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Otitis media, Hepatosplenomegaly, Hepatitis, Recurrent pneumonia, Pneum... ORPHA:169160
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Macrocephaly/Autism Syndrome
Obesity, Hepatomegaly, Splenomegaly OMIM:605309
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... ORPHA:79240
Coach Syndrome 1
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Elevated hepatic transa... OMIM:216360
Osteootohepatoenteric Syndrome
Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:619377
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Hepatitis, Portal hypertension... ORPHA:228426
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Elevated hepatic transaminase, Decreased carnitine level in live... OMIM:212140
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Neoplasm, Skin rash, Chronic otitis media, Arthritis... ORPHA:47
Bardet-Biedl Syndrome
Obesity, Hepatic fibrosis ORPHA:110
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatic fibrosis, Hepatomegaly OMIM:601539
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:90970
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Abnormal enzyme/coenzyme activity ORPHA:171706
Ddost-Cdg
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis ORPHA:300536
Narcolepsy Type 1
Obesity ORPHA:2073
Senior-Boichis Syndrome
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... ORPHA:84081
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arthritis, C... ORPHA:465508
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Omenn Syndrome
Hypoproteinemia OMIM:603554
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Bardet-Biedl Syndrome 21
Obesity, Elevated hepatic transaminase, Overweight OMIM:617406
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomega... ORPHA:231222
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous can... OMIM:209920
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulat... OMIM:600649
Dpm1-Cdg
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fibro... ORPHA:79322
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:79083
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dengue Fever
Hypoproteinemia ORPHA:99828
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Elevated hepati... ORPHA:139402
Acquired Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Lymphoma, Acute pancreatitis, Hepatic steatosis, Astrocytoma, Panniculitis ORPHA:79086
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Necrotizing enterocolitis, Hepatic st... OMIM:201475
Adult-Onset Still Disease
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic transaminase, Hep... ORPHA:829
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice OMIM:194380
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Large for gestational age OMIM:248100
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Elevated hepati... OMIM:613404
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Hepatic steatosis, Fulminant h... OMIM:231530
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Elevated cir... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis, Abnormal enzyme/coenzyme activity ORPHA:70472
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Parotitis, Acute infecti... ORPHA:31202
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Decreased liver function, Acute hepatitis, Hepatomegaly OMIM:238970
Lichen Planopilaris
Neoplasm of the oral cavity, Hepatitis ORPHA:525
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... OMIM:203700
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly OMIM:615238
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Dominant Beta-Thalassemia
Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatic... ORPHA:231226
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Meckel Syndrome, Type 6
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Chilblains, Acute pancreatitis, Elevated hep... OMIM:619487
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepat... OMIM:261680
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Eczema, Lymphadenitis, Cholestasis, Inflammation o... OMIM:615895
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:201450
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Donohue Syndrome
Pancreatic islet-cell hyperplasia, Severe failure to thrive, Hepatic fibrosis, Cholestasis OMIM:246200
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Conge... ORPHA:1454
Chylomicron Retention Disease
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Increased hepatocellular lip... ORPHA:71
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Portal hypertension, Pancreatic c... OMIM:263200
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o... ORPHA:91138
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Eczema ORPHA:3055
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:255120
Citrullinemia, Classic
Cirrhosis, Failure to thrive, Hepatomegaly OMIM:215700
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Central Precocious Puberty
Hypothalamic hamartoma, Overgrowth, Acne, Increased body weight, Obesity ORPHA:759
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... ORPHA:79095
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Cachexia, Elevated hepatic transaminase, Hepatic steatosi... ORPHA:42
Adams-Oliver Syndrome
Cirrhosis, Failure to thrive, Portal hypertension, Congenital hepatic fibrosis ORPHA:974
Graft Versus Host Disease
Failure to thrive, Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatas... ORPHA:39812
Hyperostosis Frontalis Interna
Obesity, Elevated circulating alkaline phosphatase concentration OMIM:144800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis OMIM:619013
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Bardet-Biedl Syndrome 16
Obesity, Recurrent otitis media OMIM:615993
Immune Deficiency Disease
Fulminant hepatitis, Cholangitis OMIM:242850
Summitt Syndrome
Obesity OMIM:272350
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Intrahepatic biliary atresia,... OMIM:208085
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... OMIM:613070
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis OMIM:616263
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma OMIM:304790
Beta-Thalassemia Major
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Hepatic fibr... ORPHA:231214
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membra... OMIM:618999
Griscelli Syndrome
Hepatitis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:381
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Biliary tract obstruction, Hypersplenism ORPHA:77259
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Reduced carnitine O-palmitoyltransf... ORPHA:228305
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Subaortic Stenosis-Short Stature Syndrome
Acne, Obesity, Biliary tract abnormality ORPHA:3191
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, Myelodysplasia OMIM:127550
Joubert Syndrome 8
Obesity, Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly ORPHA:79085
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Q Fever
Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi... ORPHA:781
Argininemia
Portal fibrosis, Hepatomegaly, Micronodular cirrhosis, Cholestasis OMIM:207800
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Argininosuccinic Aciduria
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosi... OMIM:207900
Hardikar Syndrome
Decreased liver function, Failure to thrive, Hepatomegaly, Intrahepatic bile duct cysts, Intrahep... OMIM:301068
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Micronodular cirrhosis ORPHA:98907
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:615381
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:435651
Farber Disease
Failure to thrive, Abnormal enzyme/coenzyme activity, Hepatic failure, Hepatosplenomegaly, Arthri... ORPHA:333
Wilson Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure, Hepatocellular car... OMIM:277900
Syndromic Diarrhea
Colitis, Hepatomegaly, Hepatoblastoma, Gastritis, Splenomegaly, Small for gestational age, Cirrho... ORPHA:84064
Trichohepatoenteric Syndrome 1
Failure to thrive, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Small for gestational ... OMIM:222470
Familial Chylomicronemia Syndrome
Failure to thrive, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pancreatitis, Peria... ORPHA:444490
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Intestinal polyposis, Portal hypertens... ORPHA:774
Lysosomal Acid Lipase Deficiency
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Elevated circulati... ORPHA:275761
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... ORPHA:731
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated hepatic transaminase, Micronodular cirrhosis OMIM:192315
Isolated Sedoheptulokinase Deficiency
Hepatitis, Cholestatic liver disease, Portal hypertension, Cholestasis ORPHA:440713
Cystic Fibrosis
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepa... OMIM:219700
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... ORPHA:94089
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pat... OMIM:259700
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... ORPHA:53
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Cirrhotic Cardiomyopathy
Cirrhosis, Hepatomegaly, Jaundice ORPHA:57777
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Truncal obesity, Elevated hepati... OMIM:203800
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Portal hypertension, Failure to thr... OMIM:613385
Aspergillosis
Keratitis, Sinusitis, Osteomyelitis, Hematological neoplasm, Hepatitis, Infectious encephalitis, ... ORPHA:1163
Congenital Enterovirus Infection
Skin rash, Hepatic failure, Myocarditis, Cholestasis, Hepatitis, Infectious encephalitis ORPHA:292
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Hepatic fibrosis OMIM:613989
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Legionnaires Disease
Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Perica... ORPHA:549
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Tall stature, Disproportionate tall stature, Hepatic steatosis OMIM:236200
Tyrosinemia, Type I
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure,... OMIM:276700
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Dysbetalipoproteinemia
Hepatomegaly, Gout, Acute pancreatitis, Obesity, Hepatic steatosis ORPHA:412
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic transam... OMIM:608594
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Hepatomegaly OMIM:200995
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atop... ORPHA:183675
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Fructose Intolerance, Hereditary
Failure to thrive, Hepatomegaly, Jaundice, Cirrhosis, Elevated hepatic transaminase, Hepatic stea... OMIM:229600
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Pericarditis, H... OMIM:212065
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Bardet-Biedl Syndrome 1
Abdominal obesity, Truncal obesity, Biliary tract abnormality, Hepatic fibrosis, Obesity OMIM:209900
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Weight... ORPHA:2552
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Hydroxyprolinemia, Osteopenia, Ankylosis, Os... OMIM:239000
Cortisone Reductase Deficiency 1
Obesity, Acne OMIM:604931
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Acute hepatic failure, Increased circulating lactate dehydrogenase concentrati... ORPHA:99901
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly