Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
beta-carotene oxygenase 2
Synonyms:
CMO2,  B-diox-II,  beta-diox-II,  Bcmo2,  Bcdo2

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 Bco2 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 Bco2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Infertility, Hyperinsulinemia, Pol... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Primary amenorrhea, Hepatosplenomegaly, Hypercholesterolemia, S... OMIM:612526
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hepatic steatosis, Primary adrenal insufficiency, Hepatic failure, Hepatomegaly, Hy... OMIM:617872
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Lipoatrophy, Diabetes mell... ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Hypercholesterolemia OMIM:616829
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Secondary amenorrhea, Anemia, Elevated hepatic transaminase, Cirrhosi... OMIM:613313
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Insulin-resis... ORPHA:79085
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Loss of gluteal subcutaneou... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ov... ORPHA:435660
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Diabetes me... OMIM:610717
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Lipoatrophy, Insulin-resistant diabetes mellitus, Hypertriglyce... OMIM:613877
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Infertility, Hypercholesterolemia, Azoospermia, Oligospermia, Type II diabetes... OMIM:615703
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Primary amenorrhea, Hyperinsulinemia, Polycystic ovaries, Loss ... OMIM:604367
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Cryptorchidism, Hepatomegaly, Diabetes mel... OMIM:615381
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, Testicular at... OMIM:235200
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Irregular menstruation, Hepatomegaly, De... OMIM:615238
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, N... OMIM:214900
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Splenomegaly, Hep... ORPHA:2348
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Testicular atrophy, Cirrhosis, Thrombocytopenia OMIM:613987
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Elevated alkaline phosphatase of bone ... OMIM:616828
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Jaundice, Reti... OMIM:224100
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Primary amenorrhea, Polycystic ovaries, Dysmenorrhea, Splenomegaly, Hepatomega... ORPHA:79083
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Splenomega... ORPHA:417
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Elevated... ORPHA:567983
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Polycystic ovaries, Hyper... OMIM:151660
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Menometrorrhagia, Hyperlipidemia, Polycystic ovaries, Splenomeg... ORPHA:90970
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, ... OMIM:602390
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Precocious puberty in females, Hyperinsulinemia, Amenorrhea, Po... ORPHA:528
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Irregular menstruation, Cholestasis, Delayed puberty, Polycystic ovaries, Dysm... ORPHA:370
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Elevat... OMIM:619013
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Lipoatrophy ORPHA:79087
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Anemia, Impotence, Diabetes mellitus, Cirrhosis OMIM:606069
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Bili... ORPHA:1414
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Generalized lipodystr... ORPHA:363400
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Portal fibrosis, Elevated hepatic trans... OMIM:614300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Deple... OMIM:251880
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Anemia, Elevated hepatic transaminase, Ma... OMIM:615438
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Hyp... OMIM:603552
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Irregular menstruation, Cholestasis, Delayed puberty, Polycystic ovaries, Dysm... ORPHA:264580
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Reduced int... OMIM:608594
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic transaminase ORPHA:300536
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Increased circulating lactate dehydrogenase concentration, Ch... ORPHA:79303
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased fertility, Acute pancreatitis, Hepatic steatosis, Reduc... OMIM:269700
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Elevated gamma-glutamyltransferase level, Splenomegaly, Hepatomegaly, Nodula... OMIM:619463
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:369840
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Elevated hepatic... OMIM:235555
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Cryptorchidism, Hypospadias, De... OMIM:610198
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Thrombocytopeni... OMIM:607616
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Inc... ORPHA:280365
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated gamma-gl... OMIM:614582
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Diabetes mellitus OMIM:615980
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatic failure, Hepatos... ORPHA:158057
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Portal hypertension, Hypogonadotropic hypogonadism, Amenorrhea, Chol... ORPHA:465508
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Hypogonadism, Pure red cell aplasia OMIM:618165
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Elevated c... OMIM:613489
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal enzyme/coenzyme activity, Hepatic steatosis, Abnormal reproductive system morphology, De... ORPHA:70472
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Prolonged neonatal jaundic... OMIM:256810
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Beta-Thalassemia Intermedia
Hypothyroidism, Diabetes mellitus, Persistence of hemoglobin F, Cholelithiasis, Decreased liver f... ORPHA:231222
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Gaucher Disease Type 2
Flexion contracture, Splenomegaly, Hepatomegaly ORPHA:77260
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Scarring alopecia of scalp, Splenomegaly, Hepatomegaly, Jaundic... ORPHA:59303
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated hepatic transaminase, Cardiom... OMIM:255120
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thro... OMIM:610333
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hepatomegaly, Decreased carnitine level in liver, Elevated hepatic transaminas... OMIM:212140
Wolman Disease
Adrenal insufficiency, Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cell... ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated hepatic transam... OMIM:600649
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Corneal scarring, Periportal fibrosis, Chronic hepatitis, Por... ORPHA:101330
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Elevated circulating alanine aminotra... OMIM:615559
Anemia, Congenital Dyserythropoietic, Type Ia
Reduced level of N-acetylglucosaminyltransferase II, Poikilocytosis, Splenomegaly, Anisocytosis, ... OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration,... ORPHA:79302
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia, Hypertrig... OMIM:300635
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Decreased fumarate hydratase activity, Uterine leiomyosarcoma OMIM:150800
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Polycystic ovaries, Generalized lipodyst... ORPHA:79086
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Decreased liver function, Hepatomegaly, Abnormal lactat... ORPHA:42
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Neutropenia, Anemia, Thr... OMIM:251110
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Fulminant hepatitis, ... ORPHA:2137
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology ORPHA:31
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hypertriglyceridemia... OMIM:613101
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switc... OMIM:615513
Isolated Biliary Atresia
Hypothyroidism, Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atret... ORPHA:30391
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Neutropenia, Anemia, Thr... OMIM:251100
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Irregular menstruation, Hyperlipidemia, Abnormal libido, Testicular neoplasm, ... ORPHA:189439
Interstitial Lung And Liver Disease
Hepatic steatosis, Hypothyroidism, Hepatic failure, Elevated circulating alanine aminotransferase... OMIM:615486
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Elevated total serum tryptase, Splenomegaly, Hepatom... ORPHA:98848
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, External genital hypoplasia, Knee flexion co... ORPHA:79322
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Hepatic steatosis, T lymphocytopenia, Multiple joint contractures, Delayed pub... ORPHA:2959
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Proteus Syndrome
Lipoma, Splenomegaly, Lymphangioma, Multiple lipomas OMIM:176920
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Hyperinsulinemia, Splenomegaly, Hepatomega... OMIM:613327
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Diabetes mellitus, Elevated ... ORPHA:541423
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly, Hernia ORPHA:93476
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Decreased beta-glucocerebrosidase level OMIM:231000
Aromatase Deficiency
Hepatic steatosis, Primary amenorrhea, Hyperlipidemia, Cryptorchidism, Ambiguous genitalia, femal... ORPHA:91
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility OMIM:602271
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Proteasome-Associated Autoinflammatory Syndrome 4
Flexion contracture, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Generalized lipodys... OMIM:619183
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hypothyroidism, Flexion contracture, Thrombocytosis, Hepatomegaly, Hypergonado... OMIM:212065
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadeno... OMIM:609981
Sialidosis Type 2
Flexion contracture, Splenomegaly, Hepatomegaly, Inguinal hernia, Ascites, Umbilical hernia ORPHA:87876
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytop... ORPHA:108
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Acanthocytosis, Elevated hepatic tran... ORPHA:71
Citrullinemia Type Ii
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transamin... ORPHA:247585
Alstrom Syndrome
Hepatic steatosis, Irregular menstruation, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, ... OMIM:203800
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Reduced carnitine O-palmitoyltransferase level, Hepatomegaly,... ORPHA:228305
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Anemia, Elevated hepatic transamin... ORPHA:298
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphad... OMIM:308240
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Chronic hepatitis... OMIM:614921
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Decreased liver function, Anemia, C... OMIM:606003
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, Hepatic necrosis, Fulminant h... OMIM:231530
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Hypercholesterolemia, Splenomegaly, Hep... ORPHA:79240
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Flexion contracture, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Pannicu... OMIM:617591
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... OMIM:194380
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hypothyroidism, M... OMIM:619487
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Primary a... OMIM:619418
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Irregular menstruation, Hyperlipidemia, Abnormal response to corticotropin rel... ORPHA:189427
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... ORPHA:79477
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Hyperlipidemia... ORPHA:444490
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypogonadism OMIM:619273
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Decreased methionine synthase activity, Increased mean corpuscular volume, ... OMIM:277410
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Overhydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Decreased mean corpuscular hemoglobin ... ORPHA:3203
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Flexion contracture, Delayed puberty, Shawl scrotum, Hepatomeg... OMIM:616263
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Decreased serum testosterone concentration, Splenomegaly, Hepatomegaly,... OMIM:201100
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypothyroidism, Hyperlipidemia, Cryptorchidism, Precocious puberty, Arthrogryp... ORPHA:254346
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Portal hypertension, Hep... ORPHA:824
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia, Testicular atrophy OMIM:601163
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:261680
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hemoglobin E Disease
Splenomegaly, Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequ... ORPHA:2133
Farber Lipogranulomatosis
Decreased acid ceramidase activity, Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Type II diabetes mell... ORPHA:1133
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia, Type I diabetes mellitus ORPHA:290
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly OMIM:201475
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Perineal hypospadias, Normochromic microcytic a... ORPHA:66634
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Hepatic failure, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Fetal Gaucher Disease
Pancytopenia, Flexion contracture, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Arthrog... ORPHA:85212
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Hypothyroidism, Papillary cystade... ORPHA:93111
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Primary adrenal insufficiency, Hepatosplenomegaly, Hepatic fail... ORPHA:275761
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Splenomegaly, Anemia, Panniculitis, Hypertriglyceridemia OMIM:618398
Immunodeficiency 32B
Splenomegaly OMIM:226990
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hepatic failure, Hepatomegaly ORPHA:255210
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Priapism, Leukocytosis, Splenomegaly, Hepat... OMIM:603903
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly OMIM:605309
Niemann-Pick Disease, Type A
Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:257200
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Hepatomegaly, Intrahepatic biliary dysgenesis, ... OMIM:614866
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hypothyroidism, Hypercholesterolemia, Hepatomegaly, Xanthe... ORPHA:412
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia, Elevated hepatic transaminase OMIM:611126
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:615630
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Hepatosplenomegaly, Cryptorchidism, Micropenis, Splenomegaly, Hepatomegaly, Pulm... ORPHA:1655
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration ORPHA:52430
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenom... OMIM:610199
Mcleod Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... OMIM:300842
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Acute hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fastin... ORPHA:71212
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Asci... OMIM:256550
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepato... OMIM:263200
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased circulating lactate... ORPHA:3202
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Abnormal gr... ORPHA:98907
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Hypothyroidism, Bone marrow hypocellularity, Neutropenia, Elevated hepatic tra... ORPHA:445038
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Enamel hypoplasia, Elevated gamma-glutamyltransferase level, Splenomeg... OMIM:614576
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Diabetes mellitus, Anisopoik... ORPHA:231214
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Cryptorchidism, Micropenis, Splenomegaly, Hepatomegaly, Pulmonary lymphangiectas... OMIM:235255
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio... OMIM:617253
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreatitis OMIM:207750
B4Galt1-Cdg
Hypothyroidism, Splenomegaly, Hepatomegaly, Abnormal enzyme/coenzyme activity, Elevated hepatic t... ORPHA:79332
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... ORPHA:288
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Decreased liver function, Neutropenia, An... ORPHA:540
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Increased circulating lactate dehydrogenase concentration, Acute hepatic failu... ORPHA:99901
Hyperlipoproteinemia, Type I
Hyperlipidemia, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Lactescent serum, Jaundic... OMIM:238600
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:212138
Pseudo-Torch Syndrome 1
Splenomegaly, Hepatomegaly, Jaundice, Decreased liver function, Elevated hepatic transaminase, Um... OMIM:251290
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Irregular menstruation, Chronic neutropenia, Anemia, Pancreatitis, Hyperlipidemia... ORPHA:79259
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Diabetes mellitus OMIM:229300
Primary Sclerosing Cholangitis
Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Cholelithiasis, Eleva... ORPHA:171
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:619525
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hypothyroidism, Hepatic failure, Macronodular ci... ORPHA:699
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Splenomegaly, Hepatom... ORPHA:39041
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphop... OMIM:612541
Sialuria
Inguinal hernia, Hypoplastic nipples, Splenomegaly, Hepatomegaly OMIM:269921
Muckle-Wells Syndrome
Hernia of the abdominal wall, Splenomegaly, Hepatomegaly, Anemia, Camptodactyly of finger, Delaye... ORPHA:575
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Fructose-1,6-Bisphosphatase Deficiency
Abnormal enzyme/coenzyme activity, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:91138
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Coach Syndrome 1
Portal hypertension, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Intrahepatic bile... OMIM:216360
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Nodular Non-Suppurative Panniculitis
Panniculitis, Splenomegaly, Hepatomegaly ORPHA:33577
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Umbilical hernia, Splenomegaly, Hepatomegaly OMIM:252900
D-Bifunctional Protein Deficiency
Hepatic steatosis, Primary adrenal insufficiency, Cholestasis, Bile duct proliferation, Splenomeg... OMIM:261515
Oculoskeletodental Syndrome
Hypothyroidism, Cryptorchidism, Splenomegaly, Hepatomegaly, Elbow flexion contracture OMIM:618440
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Decreased methylmalonyl-CoA mutase activity, Neutropenia, Decreased methion... OMIM:277400
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly,... ORPHA:247598
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Giant platelets, Splenomegaly, Chronic hemolytic ... OMIM:210250
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Splenomegaly, Hepatomegaly, Low cholesterol esterification rate, ... OMIM:257220
Neutral Lipid Storage Myopathy
Hepatic steatosis, Increased circulating lactate dehydrogenase concentration, Pineal cyst, Cholec... ORPHA:98908
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Hepatic periportal necrosis, Jaundice OMIM:231680
Joubert Syndrome With Hepatic Defect
Intrahepatic biliary atresia, Portal hypertension, Abnormality of the hypothalamus-pituitary axis... ORPHA:1454
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating alanine aminotransferase concentration, Lipid accumulation ... OMIM:608836
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Histiocytosis, Elbow flexion contracture, Azoospermi... OMIM:602782
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Hepatic steatosis, Pancreatitis OMIM:236200
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Delayed puberty, Splenomegaly, Hepatomegaly,... ORPHA:77259
Combined Oxidative Phosphorylation Deficiency 37
Elevated gamma-glutamyltransferase level, Bile duct proliferation, Decreased liver function, Elev... OMIM:618329
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Flexion contracture, Splenomegaly, Hepa... OMIM:617303
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Hepatomegaly, Anemia... OMIM:170100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Felty Syndrome
Abnormal lymphocyte morphology, Cellulitis, Bone marrow hypocellularity, Splenomegaly, Hepatomega... ORPHA:47612
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Cellulitis, Lymphadenitis, Decreased activity of NADPH oxidase, Splenomegaly, Hepatomegaly, Granu... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Cellulitis, Lymphadenitis, Decreased activity of NADPH oxidase, Splenomegaly, Hepatomegaly, Granu... OMIM:233710
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Testicular atroph... OMIM:222300
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Splenomegaly, Hepatomegaly, Hypocalcification of dental enamel, Hemolyti... ORPHA:169090
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly OMIM:205400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603553
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:619573
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Hypoparathyroidism, Chronic hepatic failure, Diffuse hepatic steatosis, Left ventric... ORPHA:746
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Lymphadenitis, Decreased activity of NADPH oxidase, Splenomegaly, Hepatomegaly, Granu... OMIM:233690
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Hepatomegaly, Hernia OMIM:252930
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypothyroidism, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Hepatomeg... OMIM:613385
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Prolonged neonatal ... OMIM:300908
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Reduced carnitine O-palmitoyltransferase leve... ORPHA:228308
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Low cholesterol esterification rate, Prolonged neonatal jaundice, Bon... OMIM:607625
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Hurler-Scheie Syndrome
Contracture of the distal interphalangeal joint of the fingers, Splenomegaly, Hepatomegaly, Ingui... OMIM:607015
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholestasis, Cholangitis, Decreased liver function, Elevated he... OMIM:124000
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Panc... ORPHA:549
Abetalipoproteinemia
Hepatic steatosis, Hypothyroidism, Cirrhosis, Hepatomegaly, Acanthocytosis, Anemia, Elevated hepa... ORPHA:14
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Anemia, Prolonged neonatal jaundice, Portal fibros... OMIM:619377
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Elev... OMIM:225750
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Hepatomega... OMIM:259700
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Elevated ... OMIM:613471
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Thyroiditis OMIM:617388
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Az... ORPHA:251066
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Hemol... OMIM:618935
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Anemia, Diffuse hepatic steatosis, Decreased liver function, Hepatomegaly ORPHA:436271
Tyrosinemia, Type I
Enlarged kidney, Pancreatic islet-cell hyperplasia, Splenomegaly, Hepatomegaly, Acute hepatic fai... OMIM:276700
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hypersplenism, Thrombocytopen... OMIM:301068
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:612387
Monosomy 13Q34
Hepatic steatosis, Metrorrhagia ORPHA:96168
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
X-Linked Lymphoproliferative Disease
Pancytopenia, Hepatic failure, Histiocytosis, Absent natural killer cells, Increased T cell count... ORPHA:2442
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, N... ORPHA:158048
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hepatic steatosis, Small scrotum, Portal hypertension, Cholestasis, Bile duct proli... OMIM:613658
Proteus-Like Syndrome
Subcutaneous lipoma, Shagreen patch, Polycystic ovaries, Splenomegaly, Abnormality of the parathy... ORPHA:2969
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Decreased beta-galactosidase activity, Splenomegaly, Hepatomegaly, Inguin... OMIM:230500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Hype... OMIM:267700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Elevated total seru... ORPHA:98849
American Trypanosomiasis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:3386
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatocellular ... OMIM:618278
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Enlarged kidney, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangiti... ORPHA:731
Mucopolysaccharidosis Type 7
Splenomegaly, Inguinal hernia, Hepatitis, Ascites, Umbilical hernia ORPHA:584
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, ... OMIM:615688
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Leukocytosis, Flexion contracture, Micropenis, Decreased testicular size, Hypo... OMIM:619321
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Liver abscess, Mediastinal lymphadenopathy ORPHA:379
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreatitis OMIM:615947
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Distal arthrogryposis, Splenomegaly, Hepatomegaly, Decreased liver function, Hypo... OMIM:618268
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphadeno... ORPHA:1572
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Hyperlipidemia, Delayed puberty, Autoimmune thrombocytopenia, Sp... ORPHA:77293
Majeed Syndrome
Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Hyp... ORPHA:77297
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Irregular menstruation, Epididymitis, Cardiomegaly, Thrombocytopenia, Flexion ... OMIM:256040
Scheie Syndrome
Splenomegaly, Hepatomegaly ORPHA:93474
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Increased mean platelet volume OMIM:153670
Gray Platelet Syndrome
Menorrhagia, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Flexion contracture, Hepatomegaly, Abnormal enzyme/coenzyme activity, Elevated... ORPHA:17
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Lymphadenitis, Decreased activity of NADPH oxidase, Ascites, Splenomegaly, Hepatomega... OMIM:306400
Adams-Oliver Syndrome 5
Splenomegaly, Inguinal hernia, Right ventricular hypertrophy, Umbilical hernia, Hypersplenism OMIM:616028
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Fucosidosis
Flexion contracture, Vacuolated lymphocytes, Hernia, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615356
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... ORPHA:20
Hyperparathyroidism, Neonatal Severe
Primary hyperparathyroidism, Splenomegaly, Hepatomegaly, Anemia, Elevated circulating parathyroid... OMIM:239200
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Cholecystitis, Splenomegaly, Hepatomegaly, Anemia, ... ORPHA:781
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Elevated hep... ORPHA:309854
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Anemia, Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly OMIM:220110
Atypical Werner Syndrome
Decreased fertility, Hepatic steatosis, Hyperinsulinemia, Generalized lipodystrophy, Lipoatrophy,... ORPHA:79474
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Hypothyroidism, Thrombocytosis, Splenomegaly... ORPHA:84064
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Hypothyroidism, Parathyroid agenesis, Abnormality of the thymu... OMIM:188400
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Dyskeratosis Congenita
Hepatic failure, Bone marrow hypocellularity, Abnormal testis morphology, Abnormal morphology of ... ORPHA:1775
Familial Mediterranean Fever
Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Hepatomegaly OMIM:249100
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Vacu... ORPHA:167
Fructose Intolerance, Hereditary
Hepatic steatosis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis OMIM:229600
Lymphatic Malformation 6
Intestinal lymphangiectasia, Hypothyroidism, Cellulitis, Splenomegaly, Ascites, Hydrocele testis OMIM:616843
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Splenomegaly, Hepatomegaly, Hypogonadism, Arthrogryposis multiplex congenita ORPHA:163746
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly OMIM:612918
Porphyria, Congenital Erythropoietic
Cholelithiasis, Corneal scarring, Atypical scarring of skin, Splenomegaly, Hemolytic anemia, Thro... OMIM:263700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Achilles tendon contracture, Microvesicular hepatic steatosis, Corneal scarring, Splenomegaly, He... ORPHA:404454
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Abnormal enzyme/coenzyme acti... ORPHA:565612
Gaucher Disease, Type Iiic
Pancytopenia, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:231005
Polycythemia Vera
Portal hypertension, Hepatomegaly, Acute leukemia, Splenomegaly ORPHA:729
Meckel Syndrome, Type 1
Accessory spleen, Bile duct proliferation, Cryptorchidism, Splenomegaly, Ambiguous genitalia, fem... OMIM:249000
Mastocytosis
Chronic leukemia, Mastocytosis, Splenomegaly, Hepatomegaly, Acute leukemia ORPHA:98292
Biotinidase Deficiency
Decreased biotinidase level, Splenomegaly, Hepatomegaly OMIM:253260
1P36 Deletion Syndrome
Hepatic steatosis, Abnormality of the liver, Hypothyroidism, Cryptorchidism, Abnormality of femal... ORPHA:1606
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Premature ovarian insufficiency, Hy... ORPHA:99413
Turner Syndrome
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Premature ovarian insufficiency, Hy... ORPHA:881
Mosaic Monosomy X
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Premature ovarian insufficiency, Hy... ORPHA:99228
Monosomy X
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Premature ovarian insufficiency, Hy... ORPHA:99226
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Hepatic failure, Elevated gamma-glutamyltr... ORPHA:64
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Mandibuloacral Dysplasia Progeroid Syndrome
Macrovesicular hepatic steatosis, Flexion contracture, Generalized lipodystrophy, Hepatomegaly, E... OMIM:619127
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Leukocytosis, Orchitis, Peritonitis, Splenomegaly, Lymphadenopathy, Fasciitis ORPHA:32960
Familial Mediterranean Fever