Gene: Glmp MGI:1913318

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glycosylated lysosomal membrane protein
Synonyms:
NCU-G1,  0610031J06Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Glmp 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 Glmp by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Viral hepatiti... ORPHA:139507
Hypervalinemia And Hyperleucine-Isoleucinemia
Hypervalinemia, Elevated circulating alanine aminotransferase concentration, Hyperisoleucinemia, ... OMIM:618850
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Elevated hepatic transaminase, Decreas... ORPHA:300298
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased serum iron, Congenital hepatic fibrosis, Increased circula... ORPHA:446
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... OMIM:300635
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... ORPHA:79230
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Hypersplenism, Leukopenia, Anemia, Bone-marrow foam... OMIM:278000
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase OMIM:614582
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Hepatocell... ORPHA:231222
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kina... OMIM:232400
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema, Hyperpigmentation of the skin OMIM:176090
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperlipidemia, Hepatomegaly,... ORPHA:369
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoalbuminemia, Hepatic failure OMIM:602579
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Abnormality of retin... ORPHA:48818
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Cholestasis OMIM:609313
Adult-Onset Still Disease
Skin rash, Elevated hepatic transaminase, Pericarditis, Leukocytosis, Myocarditis, Generalized ly... ORPHA:829
Mpi-Cdg
Congenital hepatic fibrosis, Hepatic failure ORPHA:79319
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase ... ORPHA:53035
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopeni... ORPHA:848
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated hepatic transaminase OMIM:602114
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Griscelli Syndrome
Iris hypopigmentation, Premature graying of hair, Abnormality of neutrophils, Silver-gray hair, W... ORPHA:381
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Inflammation of the large intestine, Vitil... ORPHA:2137
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly OMIM:619175
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated hepatic transaminase, Hyperpigmentation of the skin, An... ORPHA:75563
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Hepatomeg... OMIM:603552
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated serum transamin... OMIM:611182
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Conjugated... ORPHA:186
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Decreased serum iron, Hepatitis OMIM:614602
Atransferrinemia
Hypochromic anemia, Atransferrinemia, Abnormality of the liver OMIM:209300
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Patent ductus arteriosus, Hepatic fibrosis, Hepatomegaly, Panc... OMIM:606003
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Lymphopen... OMIM:604250
Nephronophthisis 16
Hepatic fibrosis, Enlarged kidney, Patent ductus arteriosus, Cholestasis OMIM:615382
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Ab... OMIM:618528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Dec... ORPHA:541423
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Hypopigmented sk... ORPHA:47
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Hepatomegaly, Acute myeloid leukemia, Thrombocytopenia, Anemia, Splenomega... OMIM:133180
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly,... OMIM:607616
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, Elevated c... OMIM:614921
Retinitis Pigmentosa 59
Hepatomegaly, Elevated hepatic transaminase OMIM:613861
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Elevated gamma-glutamyltransferase... ORPHA:30391
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte prot... OMIM:300752
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglo... ORPHA:231226
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Fetal ascites, Cholestasis,... ORPHA:292
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Jaundice, Cho... OMIM:613404
Caroli Syndrome
Conjugated hyperbilirubinemia, Jaundice, Hypersplenism, Leukopenia, Cirrhosis, Intrahepatic chole... ORPHA:480520
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Congenital hepatic fibrosis ORPHA:3156
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Primary Sclerosing Cholangitis
Thyroiditis, Jaundice, Hypoalbuminemia, Cirrhosis, Acute hepatic failure, Uveitis, Elevated alkal... ORPHA:171
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Hepatomegaly, Hyperpigmenta... OMIM:602390
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal liver function tests during pre... OMIM:147480
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Neutropenia, Thrombo... OMIM:304790
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomega... OMIM:615285
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the... ORPHA:39812
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase OMIM:189800
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Stomatitis, H... OMIM:308230
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatomegaly, Jaundi... OMIM:235555
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Senior-Loken Syndrome 9
Hepatic fibrosis, Tubulointerstitial nephritis, Cholestasis OMIM:616629
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglo... ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase, Hyperalani... OMIM:616974
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, An... OMIM:606069
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Anemia, Cholestasis OMIM:266920
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hepatic fibrosis, Hepatome... OMIM:216360
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618495
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains, Elevated hepatic transaminase OMIM:610329
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Macrove... OMIM:600649
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Elevated he... ORPHA:210136
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Hyperammonemia OMIM:238970
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pate... OMIM:208540
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Avian Influenza
Myelitis, Elevated hepatic transaminase, Lymphopenia, Increased circulating lactate dehydrogenase... ORPHA:454836
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Jaundice, Cho... OMIM:208085
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cirrhosis, Elevated hepatic transaminase OMIM:613490
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepatitis, Sinusiti... ORPHA:33110
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Reduced level of N-a... OMIM:224120
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Pancytopenia, Hepatic failure OMIM:617872
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension OMIM:616589
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Jaundice, S... OMIM:224100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent sinusitis, Colitis, Thr... OMIM:613101
Dpm3-Cdg
Elevated creatine kinase after exercise, Elevated hepatic transaminase ORPHA:263494
Poikiloderma With Neutropenia
Recurrent otitis media, Increased circulating lactate dehydrogenase concentration, Recurrent sinu... OMIM:604173
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of the skin, Splenomegaly OMIM:618541
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Melioidosis
Prostatitis, Lung abscess, Cutaneous abscess, Splenic abscess, Acute infectious pneumonia, Pneumo... ORPHA:31202
Legionnaires Disease
Endocarditis, Pericarditis, Myocarditis, Lymphopenia, Hyponatremia, Jaundice, Hepatitis, Encephal... ORPHA:549
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormality of skin pigmentation, Cirrhosis, Seborrheic dermatitis, Hepatomegaly, Elevated circul... OMIM:300868
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Elevated hepatic transaminase OMIM:612937
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... OMIM:269200
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Hypercholesterolemia, Bone-marrow foam cells, Microvesicular hepa... ORPHA:275761
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia ORPHA:35
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Normocytic ... OMIM:235700
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Hepatomegaly, Pancytopenia, Thromb... ORPHA:507
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Fulmi... OMIM:308240
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, T lymphocytopenia, Abnormal CD4:CD8 ratio, Sk... ORPHA:572
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Elevated hepatic transamina... OMIM:235200
Lichen Planopilaris
Hepatitis, Hypopigmented skin patches ORPHA:525
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Elevated circulating C... ORPHA:54251
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Pneumonia, H... ORPHA:36234
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Postprandial hyperglycemia, Cholestasis, Hepatitis, Cholestatic li... ORPHA:440713
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Keratoconjunctivitis sicca, Splenomegaly, Mediastinal lymphadenopa... ORPHA:91138
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating aspartat... OMIM:207900
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Enlarged kidney, Periportal fibrosis, Thrombocytopenia, Cholangitis, Asc... ORPHA:731
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatic failure, Hyperammonemia OMIM:617049
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Abnormal liver function tests during pregnancy, Increased ser... OMIM:614972
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Thrombocytopenia, Elevated hepa... OMIM:614727
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Nodular Regenerative Hyperplasia Of The Liver
Portal hypertension, Abnormality of the hepatic vasculature ORPHA:48372
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Polycythemia, He... OMIM:613280
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Elevated total serum tryptase, Maculopapular... ORPHA:98848
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypopigmentation of hair, Abnormality of iron homeostasis, Lymphopenia... ORPHA:84064
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean pl... OMIM:222470
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated hepatic transaminase, Elevated circulating sebacic acid concentration, I... OMIM:615160
Abetalipoproteinemia
Cirrhosis, Abnormality of retinal pigmentation, Elevated hepatic transaminase, Hypotriglyceridemi... ORPHA:14
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated circulatin... OMIM:255120
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Decreased mean corpuscular hemoglobin concentration, Reticulocy... ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine aminotransferas... OMIM:619386
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
Q Fever
Osteomyelitis, Endocarditis, Elevated hepatic transaminase, Pericarditis, Granuloma, Pneumonia, M... ORPHA:781
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Hepatic steatosis, Hypocholesterolemia, Hepatic fi... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated... OMIM:617713
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Acute hepatic failure, Neutropenia in presence of anti-neutropil antibodi... ORPHA:228426
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Hyperoxaluria, Hepatomegaly OMIM:601539
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis,... ORPHA:333
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Autoimmune hemolytic anemia, Abnormal abdomen morphology, Hypoplasia of the ... OMIM:243150
Wilson Disease
Cirrhosis, Hemolytic anemia, Hepatocellular carcinoma, Hepatomegaly, Atypical or prolonged hepati... OMIM:277900
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Cholelithiasis, Normocytic anemia, Jaundice, Normo... OMIM:222800
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepato... OMIM:610333
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Abnorma... ORPHA:67044
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Donohue Syndrome
Hepatic fibrosis, Hypermelanotic macule, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Reduced muscle carnitine level, Hepati... OMIM:212140
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase OMIM:615453
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Neutropenia, Biliary tract abnormality, Colitis, Cholangitis, Encephalitis, Chro... OMIM:209920
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase... OMIM:613489
Autoimmune Polyendocrinopathy Type 4
Vitiligo, Iridocyclitis, Autoimmune thrombocytopenia, Rheumatoid arthritis, Biliary cirrhosis, Ch... ORPHA:227990
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Throm... ORPHA:858
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Decreased pla... ORPHA:228305
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis OMIM:616394
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:246900
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Microcytic anemia, Hepatic steatosis, Hypertriglyceridemia, Hypoal... OMIM:619013
Alstrom Syndrome
Recurrent pneumonia, Nephritis, Elevated hepatic transaminase, Pigmentary retinopathy, Chronic ac... OMIM:203800
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Elevated hepatic trans... ORPHA:540
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Rheumatoid arthritis, Hashimoto thyroiditis, Glycosuria,... ORPHA:589
Sea-Blue Histiocytosis
Hepatomegaly, Thrombocytopenia, Sea-blue histiocytosis, Hyperpigmentation of the skin, Splenomega... ORPHA:158029
Autoimmune Polyendocrinopathy Type 3
Vitiligo, Iridocyclitis, Autoimmune thrombocytopenia, Rheumatoid arthritis, Biliary cirrhosis, Ha... ORPHA:227982
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatic failure, Portal hypertension OMIM:615878
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Hyperuricemia, Cholelithiasis, Redu... OMIM:232800
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Ma... OMIM:615438
Aspergillosis
Bronchiectasis, Pneumonia, Neutropenia, Hepatitis, Keratitis, Encephalitis, Sinusitis, Osteomyeli... ORPHA:1163
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Hepatomegaly, Hypoplasia of t... OMIM:603554
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Hepatomegaly, Juvenile rheumatoid arthritis, Elevated circulating C-reac... ORPHA:85414
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Decreased liver function, Elevated hepatic transaminase OMIM:616299
Preeclampsia
Thrombocytopenia, Abnormality of the hepatic vasculature, Elevated circulating creatinine concent... ORPHA:275555
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Elevated hepatic transaminase, Abnormal circulating citrulline concentration, ... ORPHA:415
Classic Mycosis Fungoides
Skin rash, Irregular hyperpigmentation, Abnormal lymphocyte morphology, Hypopigmented skin patche... ORPHA:2584
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arthritis, Enterovi... OMIM:300755
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Cholelithiasis, Jaund... OMIM:613470
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Telangiectasia, Hereditary Hemorrhagic, Type 5
Portal hypertension, Elevated hepatic transaminase OMIM:615506
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemia, Hashimoto thyroiditis, Hepatitis, H... ORPHA:199299
Farber Lipogranulomatosis
Hepatomegaly, Arthritis, Lipogranulomatosis, Splenomegaly OMIM:228000
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Inflammatory abnormality... ORPHA:398063
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Anemia ORPHA:28
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... ORPHA:98870
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hashimoto thyroiditis, Hepatomegaly, Pancytopenia, Hepatitis, Hypersplenism, Splenomegaly, Portal... OMIM:613385
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branched chain amino a... ORPHA:2394
Bardet-Biedl Syndrome
Hepatic fibrosis, Pigmentary retinopathy ORPHA:110
Lcat Deficiency
Hemolytic anemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy ORPHA:650
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Cholecystitis,... OMIM:266200
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly, Rec... OMIM:611762
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Ascites OMIM:200995
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly,... ORPHA:42
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemia, Pancreatic fibrosis, H... OMIM:208500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Elevated hepatic tr... OMIM:256810
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Thrombocytopenia, Hyperpigmentation of the skin, Aplastic anemia, Bone marrow h... OMIM:224230
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Splenomegaly ORPHA:584
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Elevated hepatic transaminase, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:284426
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, T... ORPHA:263501
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Lymphopenia, Panniculitis, Hepatomegaly, Hypertriglycer... OMIM:617591
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly, Hyperkalemia OMIM:608885
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Gaucher Disease, Type Iii
Decreased beta-glucocerebrosidase level, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:231000
Joubert Syndrome With Hepatic Defect
Cirrhosis, Elevated hepatic transaminase, Chronic hepatic failure, Neoplasm of the liver, Hepatom... ORPHA:1454
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Elevated hepatic transaminase, Hepatic steato... OMIM:615486
Transaldolase Deficiency
Cirrhosis, Thrombocytopenia, Abnormal circulating glutamine concentration, Anemia, Hepatosplenome... ORPHA:101028
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly, Anemia ORPHA:75233
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... OMIM:617948
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of the peritoneum, ... ORPHA:400
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenome... OMIM:612714
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated hepatic transaminase, Hepatic failure, Transient hyperlipidemia ORPHA:156
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Biliary... ORPHA:2552
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Uveitis, Hepatomegaly, Pancytopenia, Ascites, Aplastic ane... OMIM:615122
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Pigmentary retinopat... OMIM:240300
Pfapa Syndrome
Hepatomegaly, Encephalitis, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:42642
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis OMIM:242850
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Hepatomegaly, Prolonged ne... OMIM:257220
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Maculopapular exanthema,... ORPHA:398124
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Focal Segmental Glomerulosclerosis 1
Anemia, Hypoalbuminemia, Hyperlipidemia OMIM:603278
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Panniculitis, Pancytopenia, Hyper... OMIM:618398
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Ascites OMIM:614091
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoalbuminemia... ORPHA:367
Infantile Liver Failure Syndrome 2
Jaundice, Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase OMIM:616483
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Elevated hepatic transaminase ORPHA:98895
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Hypoglycemia OMIM:618838
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Adams-Oliver Syndrome
Cirrhosis, Thrombocytopenia, Congenital hepatic fibrosis, Ascites, Leukopenia, Portal hypertension ORPHA:974
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Galactosemia
Cirrhosis, Elevated hepatic transaminase, Increased level of galactitol in plasma, Hypergalactose... ORPHA:352
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Increased blood urea nitrogen, Elevated circulating creatinine conc... OMIM:614817
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Follicular hype... OMIM:240500
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Splenomegaly ORPHA:79292
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Generalized bronze hyperpigmentation, Cirrhosis, Ab... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Decreased liver function, Anemia, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Decreased liver function, Anemia, Hypoglycemia OMIM:618839
Spondyloenchondrodysplasia
Skin rash, Vitiligo, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Granuloma, Pneumon... ORPHA:1855
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Pancytopenia, Thrombocytopenia, Reduced ... OMIM:616050
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Decreased plasma carnitine, Elevated hepatic transaminase OMIM:201450
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Anemia, Diabetes mellitus, Ac... OMIM:604290
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... ORPHA:309854
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated hepatic transaminase, Sideroblastic anemia OMIM:613561
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Elevated circulating C-reactive protein concentration, Anemia, ... OMIM:607115
Niemann-Pick Disease, Type A
Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Microcytic... OMIM:257200
Sitosterolemia 1
Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase, Patent ductus arte... OMIM:614576
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Elevated hepatic transaminase, Exocrine pancreatic insuffi... ORPHA:1667
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Chronic hepatitis, Anemia, Neutrophilia, Eczema, Eosinophilia, Cervi... ORPHA:3260
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... OMIM:612840
Lesch-Nyhan Syndrome
Gout, Hyperuricemia, Anemia ORPHA:510
Mccune-Albright Syndrome
Hypophosphatemia, Hepatocellular adenoma, Large cafe-au-lait macules with irregular margins, Chol... ORPHA:562
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Thrombocytopenia, Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Macrocytic anemia ORPHA:27
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly OMIM:616263
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Relapsing Fever
Increased total bilirubin, Elevated hepatic transaminase, Leukocytosis, Elevated circulating crea... ORPHA:91547
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Left ventricular hypertrophy, Biliary tract abnormality OMIM:209900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Thyroiditis, Lymphopeni... ORPHA:391487
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemi... ORPHA:79237
Felty Syndrome
Recurrent pneumonia, Irregular hyperpigmentation, Pericarditis, Abnormal lymphocyte morphology, C... ORPHA:47612
Cranioectodermal Dysplasia 1
Hypocalcemia, Hepatic cysts, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatome... OMIM:218330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Hepatomegaly, Thrombocytopenia, Anemia, Pancreatitis, Hyperammonemia ORPHA:289916
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Hepatomegaly, Pancytopenia, Throm... OMIM:259720
Hardikar Syndrome
Mottled pigmentation, Elevated hepatic transaminase, Pigmentary retinopathy, Hyperbilirubinemia, ... OMIM:612726
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233710
Mitochondrial Trifunctional Protein Deficiency
Elevated hepatic transaminase, Pigmentary retinopathy, Cholestasis, Elevated circulating acylcarn... OMIM:609015
Crimean-Congo Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Hepatic steatosis, Uveitis, Thrombocytopenia, Jaundice,... ORPHA:99827
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Leptospirosis
Skin rash, Pericarditis, Uveitis, Hyperproteinemia, Lymphadenopathy, Hepatomegaly, Jaundice, Hepa... ORPHA:509
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Abnormal circulating acetylcarnitine c... ORPHA:71212
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Chronic Mucocutaneous Candidiasis
Skin rash, Hepatitis, Cheilitis ORPHA:1334
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Elevated hepatic transaminase, Leukocytos... OMIM:610377
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Increased circulati... ORPHA:99901
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase OMIM:617395
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Enlarged kidney, Hepatocellular carci... OMIM:276700
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Increased circulating... ORPHA:824
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histio... OMIM:607625
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233690
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Hyperbilirubinemia, Jaundice, Abnormality of the pancreas, Elevate... ORPHA:69665
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hair, Giant... OMIM:214500
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Pericarditis, Thrombocytopenia, Malar rash, Elevated circulating C... ORPHA:231111
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jaundice, Norm... OMIM:611881
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Elevated hepatic transaminase, Lymphadenitis, Autoimmune hemolytic anemia, Decreased p... ORPHA:331206
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Patent ductus arteriosus, Hepatomegaly, Thrombocytopenia, Decrease... OMIM:617397
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Thrombocytopenia, Decreased liver function... OMIM:251290
Reynolds Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Ele... OMIM:613471
Myh9-Related Disease
Elevated hepatic transaminase, Congenital thrombocytopenia, Increased mean platelet volume, Giant... ORPHA:182050
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Lymphopenia, Chronic at... OMIM:616100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia... OMIM:618935
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Hypoch... ORPHA:71
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Skin rash, Vacuolated lymphocytes, Recurrent bacter... ORPHA:167
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Hypereosinop... OMIM:617388
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:615381
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Rectal abscess, Hypoplasi... ORPHA:436252
Gaucher Disease
Abnormality of skin pigmentation, Cirrhosis, Hepatomegaly, Pancytopenia, Hepatitis, Thrombocytope... ORPHA:355
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Elevated hepatic trans... OMIM:619355
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Chronic... ORPHA:79124
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Conjunctivitis, Anemia OMIM:616740
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus OMIM:616026
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Neutropenia, Hypoglycemia, Hepatomegaly, P... OMIM:606054
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Uveitis, Conjunctivitis, Hepatitis, Ker... ORPHA:728
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Cholelithiasis, Hepatic fibrosis, Pancytopenia, Thrombocytopenia, Anemia, Splenomega... ORPHA:2072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Elevated circulating creatine kinase concentration, Elevated hepatic tr... OMIM:610131
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Lung abscess, Constrictive pericarditis, Elevated hepatic transaminase, Leukocytos... ORPHA:67
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... OMIM:212138
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hyperuricemia, Hypoglycemia, Hepatomegaly, Anemia, Hyperammonemia OMIM:246450
Primary Sjögren Syndrome
Vitiligo, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chron... ORPHA:289390
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase... ORPHA:159
Short Rib-Polydactyly Syndrome
Hepatic fibrosis, Hepatic cysts, Abnormality of the liver ORPHA:1505
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hypophosphatemic rickets, Hepatomegaly, Elevated circulating alkal... ORPHA:263455
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia ORPHA:2089
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Chronic Granulomatous Disease
Abnormality of neutrophils, Otitis media, Hepatomegaly, Sinusitis, Inflammatory abnormality of th... ORPHA:379
Mirizzi Syndrome