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Gene: Amfr MGI:1345634

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Gene Summary

Name:
autocrine motility factor receptor
Synonyms:
gp78

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating alanine transaminase level Amfrtm1a(KOMP)Wtsi HOM Early adult 8.58×10-07
decreased circulating aspartate transaminase level Amfrtm1a(KOMP)Wtsi HOM   Early adult 2.01×10-05
decreased lactate dehydrogenase level Amfrtm1a(KOMP)Wtsi HOM Early adult 1.48×10-05
increased bone mineral density Amfrtm1a(KOMP)Wtsi HOM Early adult 2.46×10-05
decreased circulating total protein level Amfrtm1a(KOMP)Wtsi HOM Early adult 1.85×10-09
decreased circulating serum albumin level Amfrtm1a(KOMP)Wtsi HOM   Early adult 5.75×10-05
decreased circulating alkaline phosphatase level Amfrtm1a(KOMP)Wtsi HOM Early adult 8.06×10-05
decreased circulating cholesterol level Amfrtm1a(KOMP)Wtsi HOM Early adult 1.24×10-05
decreased circulating LDL cholesterol level Amfrtm1a(KOMP)Wtsi HOM Early adult 1.06×10-05
hypoactivity Amfrtm1a(KOMP)Wtsi HET Early adult 2.41×10-05
abnormal behavior Amfrtm1a(KOMP)Wtsi HET Early adult 1.03×10-05
abnormal behavior Amfrtm1a(KOMP)Wtsi HOM Early adult 3.89×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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
Amfrtm1a(KOMP)Wtsi
head, HET, Female, WTSI
Amfrtm1a(KOMP)Wtsi
body, HET, Female, WTSI
Amfrtm1a(KOMP)Wtsi
body, HET, Female, WTSI
Amfrtm1a(KOMP)Wtsi
body, HET, Female, WTSI
Amfrtm1a(KOMP)Wtsi
head, HET, Female, WTSI

View all 166 images

Amfrtm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Amfrtm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Amfrtm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Amfrtm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Amfrtm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Amfrtm1a(KOMP)Wtsi
eye, abnormal retinal pigmentation, HOM, Female, WTSI

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
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Elevated circulating creatine kinase concentration OMIM:616687
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
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Failure to thrive, Cirrhosis, Cholestasis, Hepatic failure, Ele... OMIM:617156
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration OMIM:614321
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... ORPHA:79301
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Elevated circulating creatine kinase concentration OMIM:617232
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis ORPHA:139491
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase OMIM:613490
Porphyria Cutanea Tarda, Type I
Eczema, Hepatic fibrosis OMIM:176090
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Elevated cir... OMIM:613812
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly OMIM:271500
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Truncal obesity, Large for gestational age ORPHA:293964
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... ORPHA:90003
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated circulating a... OMIM:214900
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma OMIM:176100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Elevated circulating creatine kinase concentration OMIM:618135
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Hypoalbuminemia ORPHA:88643
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo... OMIM:231100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Failure to t... ORPHA:369
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Splenomegaly, Hepatic failure, Elevated hepatic ... OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in... OMIM:613759
Immunodeficiency 56
Cholangitis, Bronchiectasis, Failure to thrive, Recurrent otitis media, Cirrhosis, Recurrent pneu... OMIM:615207
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly... ORPHA:905
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Elevated circ... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Retinitis Pigmentosa 89
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis OMIM:618955
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Splenomegaly, Cirrhosis, H... OMIM:607765
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Elevated gamma-glutamyltransferase level, Increased hepatic echogenicity, Hepatic f... OMIM:278000
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Eczema, Decreased liver function, Cholelithiasis ORPHA:79278
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... OMIM:256810
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic failure OMIM:602579
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Failure to thrive, Elevated gamma-glutamyltransferase level, Eleva... OMIM:619484
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Osteoarthritis, Hepatic steatosis OMIM:606069
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Failure to thrive, Hepatitis, Cirrhosis, Colitis OMIM:614602
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Elevated circulating alkaline phosphata... OMIM:613489
Senior-Loken Syndrome 9
Obesity, Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Myeloid leukemia, Leukemia OMIM:614743
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Intrahepatic cholestasis, Cirrhosis OMIM:605814
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Multiple lipomas, Splenomegaly, Cirrhosi... ORPHA:1414
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splenomegaly, Biliary ... ORPHA:567983
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity OMIM:615980
Cirrhosis, Familial
Micronodular cirrhosis, Jaundice OMIM:215600
Combined Oxidative Phosphorylation Deficiency 26
Failure to thrive, Cirrhosis OMIM:616539
Coach Syndrome 2
Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Elevated hepatic transaminase OMIM:619111
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Interstitial Lung Disease 2
Cirrhosis, Alveolar cell carcinoma OMIM:178500
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Arthritis, Splenomegaly OMIM:602390
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Budd-Chiari Syndrome
Hepatomegaly, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecyst... ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... OMIM:211600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Hepatic steatosis, Choleste... ORPHA:209902
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly ORPHA:444463
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:232400
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Fulminant hepa... ORPHA:2137
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis OMIM:615703
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, R... OMIM:300635
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Flexion contracture OMIM:300717
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Hepatosplenomegaly, E... OMIM:616860
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal enzyme/coen... ORPHA:79319
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Osteoporosis, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hemochromatosis, Type 3
Cirrhosis, Arthritis, Elevated hepatic transaminase OMIM:604250
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Small for gestational age, Failure to thrive, Bile duct proliferati... ORPHA:30391
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration OMIM:606768
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Weight loss, Cholelithiasis, Spl... ORPHA:53035
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis OMIM:613987
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstr... ORPHA:69663
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia OMIM:610539
Glycogen Storage Disease Iv
Failure to thrive, Cirrhosis, Hepatosplenomegaly, Hepatic failure, Portal hypertension OMIM:232500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondrial DNA in liver... OMIM:251880
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Decreased liver function, Hepatic steatosis, Cholestasis, Ele... OMIM:614300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Erythroderma, Cirrhosis, Conjunctivitis OMIM:242150
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Galactosemia I
Failure to thrive, Hepatomegaly, Decreased liver function, Cirrhosis OMIM:230400
Nephronophthisis 16
Hepatic fibrosis, Cholestasis OMIM:615382
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis OMIM:607361
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elev... OMIM:617049
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619048
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Flexion contracture OMIM:617072
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:619481
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture OMIM:608093
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure, Obesity OMIM:615630
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Failure to thrive, Micronodular cirrho... OMIM:606003
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity ORPHA:2377
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly ORPHA:101028
Hemochromatosis Type 2
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Elevated hepatic trans... ORPHA:79230
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Adrenomyodystrophy
Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Elevated gamma-glutamyltransferase... OMIM:614582
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cog4-Cdg
Failure to thrive in infancy, Fatal liver failure in infancy, Cirrhosis, Hepatosplenomegaly, Elev... ORPHA:263501
Galactosemia
Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic failure, Abnormal enzyme/coenzyme activity, E... ORPHA:352
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Cirr... OMIM:615486
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis ORPHA:26792
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Failure to thrive, Hep... ORPHA:370
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
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
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Jaundice ORPHA:890
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Hepatic fibrosis, Portal fibrosis, Failure to th... ORPHA:264580
Nephronophthisis 15
Obesity, Hepatic failure OMIM:614845
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Omenn Syndrome
Hypoproteinemia OMIM:603554
Immunodeficiency 61
Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis, Colon cancer OMIM:300310
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity, Cholestasis ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity, Cholestasis ORPHA:71526
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis OMIM:616589
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Stomatitis, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Chronic hepatiti... OMIM:308230
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Dengue Fever
Hypoproteinemia ORPHA:99828
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Macronodular cirrhosis OMIM:215250
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Chronic hepatitis, Hepatitis, Chronic mucocutaneous candidiasis, Cirrhosis, Thymoma, Ex... OMIM:269200
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Failure to thrive, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic... ORPHA:367
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Myeloid leukemia, Myelodysplasia OMIM:614742
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis OMIM:609734
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hepatoportal Sclerosis
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splenomegaly, Abnormal liver... ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis OMIM:615415
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:298
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Failure to thrive, Verrucae, Chronic otitis media, Hepatitis, Arthriti... ORPHA:33110
Immunodeficiency 27A
Salmonella osteomyelitis, Hypoalbuminemia OMIM:209950
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Hepatitis,... ORPHA:186
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss, Abnormal liver parenchyma morphology, Medullary thyroid carcin... ORPHA:1332
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis OMIM:604367
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Hemochromatosis, Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:235200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Reynolds Syndrome
Keratoconjunctivitis sicca, Hepatomegaly, Infectious encephalitis, Arthritis, Cirrhosis, Skin ras... ORPHA:779
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Hypoalbuminemia OMIM:608104
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Congenital Generalized Lipodystrophy
Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic steatosis, Proportionate tall stature ORPHA:528
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Hepatic fibrosis OMIM:612284
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C... OMIM:300972
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma, Splenomegaly, C... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Failure to thrive, Splenomegaly, Cirrhosis, El... OMIM:614576
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Inte... OMIM:611182
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Cholestasis OMIM:266920
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Carcinoma Of Esophagus
Barrett esophagus, Obesity, Weight loss, Esophageal neoplasm ORPHA:70482
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Failure to thrive, Weight lo... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Cholestasis, Macrovesicular hepatic steatosis OMIM:614924
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Failure to thrive in infancy, Hepatitis, Cirrhosis, Hepatosplenomegaly, Hypersplenis... ORPHA:228426
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele... OMIM:619386
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Juvenile rheumatoid arthritis, Hypertriglyceridemia... ORPHA:158061
Macrocephaly/Autism Syndrome
Obesity, Hepatomegaly, Splenomegaly OMIM:605309
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Failure to thrive, Cholestatic liver disease, Elevated hepatic transaminase... OMIM:613404
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Failure to thrive secondary to recurrent infections, Chronic oral candid... ORPHA:169160
Adenocarcinoma Of The Esophagus
Barrett esophagus, Obesity, Esophageal carcinoma ORPHA:99976
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Intrahepatic bile duct dilatation, Eleva... OMIM:216360
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Failure to thrive, Chronic otitis media, Weight... ORPHA:47
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated ... OMIM:212140
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hepatic fibrosis OMIM:601539
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Beta-Thalassemia
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Esophagitis, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepatic failur... ORPHA:541423
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Bardet-Biedl Syndrome
Obesity, Hepatic fibrosis ORPHA:110
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:90970
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Abnormal enzyme/coenzyme activity ORPHA:171706
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Weight loss, Arthritis, Splenomegaly,... ORPHA:465508
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Narcolepsy Type 1
Obesity ORPHA:2073
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Cirrhosi... ORPHA:84081
Ddost-Cdg
Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Myopathy Due To Malate-Aspartate Shuttle Defect
Elevated circulating creatine kinase concentration OMIM:254960
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Knee flexion contracture, Elev... OMIM:618156
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Beta-Thalassemia Intermedia
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Cholelithiasis, Sple... ORPHA:231222
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Colitis, Failure to thrive, Chronic mucocutaneous candidias... OMIM:209920
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Wilson Disease
Hepatomegaly, Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Osteoarthritis, Atypical or p... OMIM:277900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Obesity, Overweight OMIM:617406
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Leishmaniasis
Hypoalbuminemia ORPHA:507
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Acquired Generalized Lipodystrophy
Hepatomegaly, Astrocytoma, Panniculitis, Lymphoma, Cirrhosis, Hepatic steatosis, Acute pancreatitis ORPHA:79086
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA dehyd... OMIM:231530
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:79083
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Skin rash, Elevated ... ORPHA:829
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Hepatosplenomegaly, Elevate... ORPHA:79322
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Increased circulating lactate dehydrogenase conce... OMIM:600649
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Duchenne And Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Joint stiffness, Reduced bone mineral density ORPHA:262
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice OMIM:194380
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Macrosomia Adiposa Congenita
Obesity, Large for gestational age, Adrenocortical adenoma OMIM:248100
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function, Abnormal enzyme/coenzyme activity ORPHA:70472
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Hepatic steatosis, Necrotizing enterocolitis, Periportal f... OMIM:201475
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hepatomegaly, Decreased liver function, Acute hepatitis OMIM:238970
Melioidosis
Abnormality of the spleen, Splenic abscess, Pneumonia, Prostatitis, Hepatitis, Septic arthritis, ... ORPHA:31202
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration ORPHA:243343
Lichen Planopilaris
Neoplasm of the oral cavity, Hepatitis ORPHA:525
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Cirrhosis... ORPHA:231226
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Failure to thrive, Cholestatic liver disease, Elevated hepatic transaminase... OMIM:208085
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... OMIM:203700
Donohue Syndrome
Pancreatic islet-cell hyperplasia, Severe failure to thrive, Hepatic fibrosis, Cholestasis OMIM:246200
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Hepatic fibrosis, Failure to thrive, Weight loss, Hepatic steatosis, ... OMIM:619487
Citrullinemia, Classic
Failure to thrive, Hepatomegaly, Cirrhosis OMIM:215700
Chylomicron Retention Disease
Failure to thrive, Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic t... ORPHA:71
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone mineral density, Recurr... OMIM:239000
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, S... ORPHA:1454
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Pierson Syndrome
Hypoproteinemia OMIM:609049
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Failure to thrive in infancy, Hepatomegaly, Macronodular cirrho... OMIM:619418
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating N,N-dimethylglycine conc... OMIM:605850
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:255120
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... OMIM:263200
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Splenomegaly, Abnormality of the liver, Vira... ORPHA:91138
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatitis, Recur... OMIM:614921
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Osteopenia, Flexion contracture, Hypoalbuminemia OMIM:212065
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Decreased liver function, Hepatic steatosis, Abnormal lactate dehydrogena... ORPHA:42
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Adams-Oliver Syndrome
Failure to thrive, Congenital hepatic fibrosis, Portal hypertension, Cirrhosis ORPHA:974
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Abnormal enzyme/coenzyme activit... ORPHA:79095
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Eczema ORPHA:3055
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Failure to thrive, Myositis, Fasciit... ORPHA:39812
Central Precocious Puberty
Overgrowth, Hypothalamic hamartoma, Acne, Obesity, Increased body weight ORPHA:759
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Saccharopinuria
Hypercystinemia, Elevated plasma citrulline, Hyperammonemia, Abnormality of circulating enzyme le... ORPHA:3124
Hyperostosis Frontalis Interna
Obesity, Elevated circulating alkaline phosphatase concentration OMIM:144800
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis OMIM:242850
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Bardet-Biedl Syndrome 16
Obesity, Recurrent otitis media OMIM:615993
Tyrosinemia, Type I
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Pancreatic islet-cell hy... OMIM:276700
Summitt Syndrome
Obesity OMIM:272350
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Pancreatic fibrosis OMIM:616263
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... ORPHA:53
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepatic steatosis, Hepatic failure,... ORPHA:228305
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Beta-Thalassemia Major
Hepatomegaly, Failure to thrive in infancy, Hepatic fibrosis, Hepatocellular carcinoma, Splenomeg... ORPHA:231214
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... ORPHA:94089
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Gaucher Disease Type 1
Hepatomegaly, Biliary tract obstruction, Splenomegaly, Cirrhosis, Hypersplenism, Osteoarthritis ORPHA:77259
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:261680
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Failure to thrive, Hepatitis, Arthritis, Glomerulonephritis OMIM:304790
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Hypo... ORPHA:96180
Dysplastic Cortical Hyperostosis