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Gene: Asic3 MGI:2159339

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Gene Summary

Name:
acid-sensing ion channel 3
Synonyms:
Accn3,  DRASIC

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small liver Asic3em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Asic3em1(IMPC)Mbp HOM   Early adult 3.00×10-06
enlarged gallbladder Asic3em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Asic3em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Asic3em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Asic3em1(IMPC)Mbp HOM Early adult 4.76×10-07
abnormal gallbladder morphology Asic3em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Asic3em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Asic3em1(IMPC)Mbp HOM Early adult 7.14×10-11

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Asic3 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 Asic3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia OMIM:300752
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... ORPHA:848
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Cholestasis, Elevated circulatin... OMIM:619658
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Hearing impairmen... OMIM:617394
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Immunodeficiency 104
Recurrent otitis media, Splenomegaly, Otitis media, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Extramedullary hematopoiesis, Persistence of hemoglobin... ORPHA:231222
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Hearing impairment, Biliary tract abnormality ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia ORPHA:309108
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly, Sensorineural hearing impairment OMIM:230350
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Mast Cell Sarcoma
Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Lymphadenopathy, Hepatomegaly, Media... ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Sandhoff Disease
Hepatomegaly, Splenomegaly, Hearing impairment ORPHA:796
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Sialuria
Low-set ears, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosple... ORPHA:3166
Wolman Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly OMIM:620151
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... ORPHA:77259
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Decreased erythrocyte fructose-1,... OMIM:611881
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ... OMIM:613313
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Gallbladde... ORPHA:521219
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re... ORPHA:288
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus... ORPHA:232
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Facial diplegia OMIM:160900
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Jaundi... OMIM:232800
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Jaundice, Prol... OMIM:615512
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ... OMIM:613490
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing impairment, Abnormality o... ORPHA:93476
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladder, Biliary atresi... OMIM:615710
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... ORPHA:171
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ik
Multifocal epileptiform discharges, Hepatomegaly, Splenomegaly OMIM:608540
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Facial palsy OMIM:615085
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Sensorineural hearing impairment OMIM:619273
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells OMIM:607616
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Metachromatic Leukodystrophy
Hearing impairment, Decreased nerve conduction velocity, Abnormal gallbladder morphology, Hemobil... ORPHA:512
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis ORPHA:171876
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Aicardi-Goutieres Syndrome 4
Low-set ears, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancyt... OMIM:610333
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Lo... OMIM:613101
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Tympanosclerosis, Chronic active hepatitis, Hypoparathyroidism, Asplenia OMIM:240300
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Papilledema, Thrombocytopenia, Normochromic anemia OMIM:618775
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas... ORPHA:97278
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:614886
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, EEG abnormality, Reticulocytosis OMIM:612126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Cerebrotendinous Xanthomatosis
Delayed somatosensory central conduction time, Optic disc pallor, Cholelithiasis, EEG with genera... OMIM:213700
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ... OMIM:611490
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis OMIM:620646
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas... ORPHA:97261
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... ORPHA:131
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop... OMIM:615387
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Hearing impairment, Recurrent otitis media, Splenomegaly, Lymphadenopathy,... ORPHA:397596
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly OMIM:300635
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Distal Duplication 5Q
Low-set ears, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Macrotia ORPHA:96097
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Recurrent otitis media, Splenomegaly, Follicular hyperplasia, Lymphadenopa... OMIM:240500
Fetal Cytomegalovirus Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, ... ORPHA:294
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, EEG with parietal focal spikes, Recurrent otitis media, Hepatosplenomegaly, Chole... OMIM:301066
Harderoporphyria
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Cryptorchidism, Protruding ear, Macrotia OMIM:300534
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Recurrent otitis media, Splenomegaly, Decreased proportion of class-switch... OMIM:607594
Porphyria, Congenital Erythropoietic
Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Throm... OMIM:263700
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Trichohepatoneurodevelopmental Syndrome
Low-set ears, Cholelithiasis, Decreased liver function, Recurrent otitis media, Exocrine pancreat... OMIM:618268
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an... ORPHA:108
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Sensorineural hearing im... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis... OMIM:613489
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... OMIM:607330
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... ORPHA:507
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Sensorineural hearing impairment OMIM:611762
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Acute pro... ORPHA:77293
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Ascites ORPHA:2414
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... ORPHA:529799
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Splenomeg... OMIM:301078
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... ORPHA:529808
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombo... ORPHA:85212
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Abnormal motor evoked potenti... ORPHA:909
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... ORPHA:79330
Meckel Syndrome, Type 7
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert... OMIM:267010
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen... OMIM:257200
Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing impairment ORPHA:93474
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Macrotia ORPHA:96092
Congenital Rubella Syndrome
Splenomegaly, Sensorineural hearing impairment, Anemia, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:290
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Transaldolase Deficiency
Low-set ears, Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomeg... OMIM:606003
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Neuraminidase Deficiency
Ascites, Splenomegaly, Sensorineural hearing impairment, Cardiomegaly, Hepatomegaly, Vacuolated l... OMIM:256550
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp... ORPHA:2072
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Splenomegaly, Cardiomegaly, Cir... OMIM:235200
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Cinca Syndrome
Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Sensorineural hearing impairme... ORPHA:1451
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Pancreatic Agenesis-Holoprosencephaly Syndrome
Low-set ears, Absent gallbladder, Abnormal pinna morphology, Pancreatic aplasia ORPHA:556955
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Joubert Syndrome 33
Splenomegaly OMIM:617767
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hearing impairment, Hepatitis, Pancytopenia,... ORPHA:355
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:603909
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Cardiomegaly, Hearing impairment OMIM:252920
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... ORPHA:171929
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... ORPHA:400
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte... ORPHA:100086
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Prominent stem of antihelix, Pancytopenia, Splenomegaly, Increase... OMIM:619824
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Low-set ears, Conductive hearing impairment, Pancreatic aplasia, Exocrine pancreatic insufficienc... OMIM:618500
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... ORPHA:79303
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Cholelithiasis ORPHA:464738
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm... ORPHA:398124
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis OMIM:228000
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly OMIM:615630
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ... ORPHA:2137
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Hypoplasia of the pons ORPHA:300573
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Abnormal brainstem morphology, Elongated superior cerebellar peduncle ORPHA:370022
Macrophage Activation Syndrome
Hepatitis, Decreased liver function, Hemophagocytosis, Elevated circulating aspartate aminotransf... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Steinfeld Syndrome
Abnormal pinna morphology, Absent gallbladder, Hearing impairment OMIM:184705
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph... OMIM:216360
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... ORPHA:562639
Tubulinopathy-Associated Dysgyria
Abnormal brainstem morphology, Hypoplasia of the pons ORPHA:467166
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis ORPHA:91138
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:3162
Trigeminal Neuralgia
Allodynia ORPHA:221091
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas, Low-set, posteriorly rotated ears, Cardiomegaly ORPHA:97297
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Facial diplegia, Splenomegaly OMIM:205400
Joubert Syndrome 7
Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Hearing impairment OMIM:252900
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep... OMIM:609136
Fanconi Anemia, Complementation Group Q
Low-set ears, Bone marrow hypocellularity, Biliary atresia OMIM:615272
Trisomy 8P
Annular pancreas, Conductive hearing impairment, Aplasia/Hypoplasia of the tragus, Abnormal middl... ORPHA:264450
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Cockayne Syndrome Type 1
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hearing impairment, Abnor... ORPHA:90321
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ... OMIM:308230
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Splenomegaly, Sensorineural hearing im... ORPHA:585
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy ORPHA:3386
Pudendal Neuralgia
Allodynia ORPHA:60039
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hy... ORPHA:731
22Q11.2 Deletion Syndrome
Low-set ears, Optic atrophy, Small earlobe, Cholelithiasis, Conductive hearing impairment, Hearin... ORPHA:567
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Cryptorchidism, Bi... ORPHA:83617
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly, Hearing impairment ORPHA:349
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Cholecystitis, Orthostatic hypotension due to... ORPHA:309271
Gaucher Disease, Type I
Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:230800
Immunodeficiency 10
Recurrent otitis media, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym... OMIM:612783
Chronic Granulomatous Disease
Splenomegaly, Otitis media, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy... ORPHA:379
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Absent gallbladder, Cryptorchidism, Microtia OMIM:300712
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons ORPHA:280195
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chronic otitis m... ORPHA:169090
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Hemolytic anemia, Impaired... OMIM:618935
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Hermansky-Pudlak Syndrome 10
Low-set ears, Splenomegaly, EEG abnormality, Neutropenia, Hepatomegaly, Macrotia OMIM:617050
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Hearing impairment, Pancytopenia, Splenomegaly, Anemia, Thromboc... OMIM:259700
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... ORPHA:47612
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal brainstem morphology, Hypoplasia of the brainstem, Hypoplasia of the pons, Olivopontocer... ORPHA:370959
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Thrombocytopenia, Anemia, Posteriorly rotated ears, Microtia ORPHA:163979
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Prof... OMIM:619418
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:301068
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Ascites, Chronic noninfectious lymphaden... ORPHA:100085
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
D-Bifunctional Protein Deficiency
Low-set ears, Fetal ascites, Elevated circulating hepatic transaminase concentration, Hearing imp... OMIM:261515
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Digeorge Syndrome
Low-set ears, Cholelithiasis, Parathyroid hypoplasia, Recurrent otitis media, Hepatic steatosis, ... OMIM:188400
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular schwannoma, Abnormality of the twelfth cranial nerv... ORPHA:252164
Joubert Syndrome With Hepatic Defect
Low-set ears, Elevated circulating hepatic transaminase concentration, Optic disc coloboma, Porta... ORPHA:1454
Triploidy
Low-set, posteriorly rotated ears, Abnormality of the gallbladder, Cryptorchidism, Hepatomegaly, ... ORPHA:3376
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Chediak-Higashi Syndrome
Hemophagocytosis, Decreased nerve conduction velocity, Leukopenia, Giant neutrophil granules, Spl... OMIM:214500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Atresia of the external auditory canal, Absent gallbladder, Hearing impairment ORPHA:3186
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:216400
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp... ORPHA:186
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology ORPHA:79279
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertensio... OMIM:610199
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at... ORPHA:2255
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment, Cryptorchidism OMIM:193700
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Absent gallbladder, Abnormal pinna morphology, Microtia OMIM:617925
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S... ORPHA:1572
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Mcleod Syndrome
Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Elev... OMIM:300842
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Elevated circulating hepatic transaminase concentration, Decreased liver function,... OMIM:618329
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:133540
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa... OMIM:603553
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest... OMIM:615895
Genitopalatocardiac Syndrome
Low-set ears, Abnormality of the gallbladder, Abnormal mesentery morphology, Cryptorchidism ORPHA:2075
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Hearing impairment, Chronic pancreatitis... OMIM:610717
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Steinert Myotonic Dystrophy
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Decreased response to gr... ORPHA:273
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph... OMIM:617591
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly OMIM:616028
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology ORPHA:163961
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal brainstem morphology, Abnormal pons morphology ORPHA:370997
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... ORPHA:774
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233710
Lissencephaly 9 With Complex Brainstem Malformation
Enlarged tectum, Hypoplasia of the pons, Hypoplasia of the brainstem OMIM:618325
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... OMIM:607625
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Hyperlipoproteinemia, Type Id
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233690
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Spinal Cord Injury
Allodynia ORPHA:90058
Polycythemia Vera
Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis, Tinnitus, Portal v... ORPHA:729
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope... OMIM:613471
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Zttk Syndrome
Low-set ears, Optic atrophy, Protruding ear, Absent gallbladder OMIM:617140
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly OMIM:231005
Biotinidase Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly, Sensorineural hearing impairment OMIM:253260
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Ab... ORPHA:309854
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Posteriorly rotated ears, Macrotia ORPHA:96176
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Splenome... ORPHA:158048
Tetrasomy 9P
Abnormal earlobe morphology, Glue ear, Absent gallbladder, Cryptorchidism, Biliary atresia, Jaundice ORPHA:3310
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Cranioectodermal Dysplasia 2
Low-set ears, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary c... OMIM:613610
Congenital Disorder Of Glycosylation, Type Iiw
Low-set ears, Elevated circulating hepatic transaminase concentration, Increased hepatic echogeni... OMIM:619525
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hepatitis, Leukocytosis, Splenomegaly, Autoimmune hemolytic anemia, Monocytosis, Neutrophilia, He... OMIM:620565
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Splenomegaly, Pancreatitis, Pancreatic f... OMIM:232220
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... OMIM:208500
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia, Opt... OMIM:260920
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ... OMIM:306400
Williams Syndrome
Cholelithiasis, Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairme... ORPHA:904
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:276700
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Anemia, Splenomegaly ORPHA:30
Alkaptonuria
Methemoglobinemia, Hemolytic anemia, Black pigment gallstones ORPHA:56
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Splenomegaly, Anemia, Hepatomegaly OMIM:612301
Peutz-Jeghers Syndrome
Bile duct polyp, Ovarian cyst, Biliary tract abnormality, Iron deficiency anemia, Precocious pube... OMIM:175200
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Abnormality of the gallbladder, Cryptorchidism, Abnormality of... ORPHA:887
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Optic atrophy, Hearing impairment, Absent gallbladder, Protruding ear, Optic nerve ... ORPHA:500150