banner
Genes Phenotypes Help, News, Blog

Gene: Asic3 MGI:2159339

Log in to follow

Gene Summary

Name:
acid-sensing (proton-gated) 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
hypoactivity Asic3em1(IMPC)Mbp HOM   Early adult 2.43×10-05
abnormal liver morphology Asic3em1(IMPC)Mbp HOM Early adult 0.00
enlarged gallbladder 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 4.98×10-07
decreased body length Asic3em1(IMPC)Mbp HOM Early adult 1.89×10-06
abnormal gallbladder morphology Asic3em1(IMPC)Mbp HOM Early adult 0.00
small liver Asic3em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Asic3em1(IMPC)Mbp HOM   Early adult 4.17×10-06
abnormal spleen morphology Asic3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

39 Images

View images

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
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:601068
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Ataxia, Impaired neutrophil bactericidal activi... OMIM:613470
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Giant cell hepatitis, Cholelithiasis, Ataxia, Jaundice OMIM:214980
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... ORPHA:65682
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis OMIM:300752
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:182900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... ORPHA:848
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis, Microcytic anemia ORPHA:79278
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice OMIM:605479
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hepatomegaly, Splenomegaly ORPHA:139406
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Triosephosphate Isomerase Deficiency
Dystonia, Optic disc pallor, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly... OMIM:615512
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Hearing impairment, Elevated circulating aspartate aminotransfera... OMIM:619658
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Hepatic failure, Gait ataxia OMIM:616719
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Leukocytosis, Elevated hepatic iron concentration, Hepatocellul... ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Sandhoff Disease
Hearing impairment, Hepatomegaly, Ataxia, Splenomegaly ORPHA:796
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Galactosemia Iii
Jaundice, Hepatomegaly, Sensorineural hearing impairment, Splenomegaly OMIM:230350
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Glycogen Storage Disease Vii
Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemoly... OMIM:232800
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Ataxia, Extramedullary hematopoiesis, Increas... ORPHA:822
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice, Hearing impairment ORPHA:79234
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... OMIM:616648
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... ORPHA:288
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Sialuria
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase, Attention defici... ORPHA:3166
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis ORPHA:309108
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Sple... ORPHA:66661
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Ataxia, Elevated hepatic transam... ORPHA:79095
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Metachromatic Leukodystrophy
Gait disturbance, Dystonia, Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morpholo... ORPHA:512
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... ORPHA:1215
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Ataxia, Splenomegaly ORPHA:98293
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Cholelithiasis, Sensorineural hearing i... OMIM:619273
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Myotonic Dystrophy 1
Testicular atrophy, Facial diplegia, Cholelithiasis OMIM:160900
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Abnormality of the... ORPHA:521219
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Splenomegaly, Thrombocytopenia OMIM:615085
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Gaucher Disease Type 2
Dystonia, Hepatomegaly, Splenomegaly ORPHA:77260
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... OMIM:615710
Cerebrotendinous Xanthomatosis
Abnormality of central somatosensory evoked potentials, Optic disc pallor, Cholelithiasis, EEG wi... OMIM:213700
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Dystonia, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transami... OMIM:610333
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... OMIM:256600
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepat... OMIM:613812
Ataxia-Pancytopenia Syndrome
Gait disturbance, Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macro... ORPHA:2585
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing impairment, Abnorma... ORPHA:93476
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... OMIM:601346
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Lethargy, Splenomegaly OMIM:602390
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Optic atrophy, Optic disc pallor, Anemia, Facial palsy, Splenomegaly, Hepatosplenom... OMIM:611490
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Cholelithiasis, Tympanosclerosis, Prematu... OMIM:240300
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials, Neurodegeneration, Decreased nerve conduc... OMIM:245200
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dystonia, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... ORPHA:52368
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Protruding ear, Macrotia, Cholelithiasis, Shuffling gait, Hyperactivity, Cryptorchidism, Decrease... OMIM:300534
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Splenomegaly OMIM:121300
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... ORPHA:352731
Retinitis Pigmentosa 89
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis OMIM:618955
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis ORPHA:171876
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure OMIM:614886
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Optic atrophy, Dystonia, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocy... ORPHA:79312
Ppoma
Hepatomegaly, Ascites, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotrop... ORPHA:97278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Low-frequency sensorineural hearing impairment, Hepatosple... OMIM:613101
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Ataxia, Inability to walk, Hemolytic anemia, Jaundice OMIM:608885
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia OMIM:231000
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Cirrhosis, Ataxia, Hepatic failure, Elevated hepatic transaminase OMIM:613489
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Attention deficit hyperactivity disorder, Biliary atresia ORPHA:565899
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Grfoma
Hepatomegaly, Pheochromocytoma, Ascites, Neoplasm of the thymus, Neoplasm of the pancreas, Cholel... ORPHA:97261
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Aicardi-Goutieres Syndrome 7
Dystonia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615846
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Hypoplastic nipples, Abnormality of the pinna, Cholelithiasis, Splenomegaly, Decrea... OMIM:618268
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Papilledema, Cholelithiasis OMIM:618775
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Sialidosis Type 2
Hepatomegaly, Ascites, Hearing impairment, Splenomegaly, Ataxia ORPHA:87876
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... OMIM:607765
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Ataxia, Decreased testicular size, Lethargy OMIM:201100
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Mevalonic Aciduria
Ataxia, Low-set, posteriorly rotated ears, Splenomegaly ORPHA:29
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Decreased liver fun... ORPHA:77293
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis OMIM:607361
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Biliary tract abnormality, Jaundice ORPHA:234
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hepatomegaly, Hyperactivity, Splenomegaly OMIM:252900
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Harderoporphyria
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, EEG with occipital focal spikes, EEG with central focal spikes, Cholelithiasis, Pos... OMIM:301066
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Macrotia, Cryptorchidism ORPHA:96097
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Microgastria-Limb Reduction Defects Association
Aganglionic megacolon, Asplenia, Splenogonadal fusion, Absent gallbladder, Cryptorchidism, Biliar... OMIM:156810
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia ORPHA:391
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly OMIM:602271
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Corpus callosum atrop... OMIM:616875
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Jaun... ORPHA:108
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
8P Inverted Duplication/Deletion Syndrome
Attention deficit hyperactivity disorder, Aplasia/Hypoplasia of the gallbladder, Macrotia, Crypto... ORPHA:96092
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Hearing impairment, Splenomegaly, Hyperactivity OMIM:252920
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Cerebellar atrophy, Optic disc pallor, Abnormality of visual evoked potentials, De... ORPHA:485421
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Immunodeficiency, Common Variable, 1
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Asplenia, Annular pancreas ORPHA:210122
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Peho Syndrome
Undetectable visual evoked potentials, Optic atrophy, Neuronal loss in central nervous system, Ce... OMIM:260565
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Cerebral cortical atrophy ORPHA:702
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... ORPHA:909
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Lathosterolosis
Conductive hearing impairment, Anisopoikilocytosis, Increased mean platelet volume, Schistocytosi... OMIM:607330
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Neuraminidase Deficiency
Hepatomegaly, Ascites, Dysmetria, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, S... OMIM:256550
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Immunodeficiency 32B
Splenomegaly OMIM:226990
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Anemia, Cholelithiasis, Splenomegaly, Sensorineural ... ORPHA:2072
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly OMIM:263700
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Spinocerebellar Ataxia Type 1
Optic atrophy, Cerebellar atrophy, Abnormality of somatosensory evoked potentials, Abnormal flash... ORPHA:98755
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Anemia of inadequate production, Exocrine pancreatic insuffic... OMIM:612714
Leishmaniasis
Hepatomegaly, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophag... ORPHA:507
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Cirrhosis, Microcytic anemia, Hepatic failure, Cholecystitis, Portal hypertension ORPHA:774
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... OMIM:609981
Wolman Disease
Hepatomegaly, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Hepatic failure ORPHA:75233
Niemann-Pick Disease, Type A
Athetosis, Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated... OMIM:257200
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:616649
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrop... OMIM:229300
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Dystonia, Fatal liver failure in infancy, Bone-marrow foam cells, Sp... OMIM:257220
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Diffuse cerebellar atrophy, Corpus callos... ORPHA:480898
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Retinal degeneration, Abnormality of visual evoked potentials, Corpus callosu... ORPHA:168491
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Ataxia, Prolonged brai... ORPHA:206443
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Coach Syndrome 1
Hepatomegaly, Dystonia, Optic disc pallor, Hepatic fibrosis, Splenomegaly, Cirrhosis, Ataxia, Int... OMIM:216360
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarc... ORPHA:480520
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Sensorineural hearing impairment, Splenomegaly OMIM:611762
Pentalogy Of Cantrell
Polysplenia, Absent gallbladder ORPHA:1335
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Free Sialic Acid Storage Disease
Athetosis, Hepatomegaly, Gait disturbance, Ascites, Splenomegaly, Ataxia ORPHA:834
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Sensorineural hearing impairment, Thrombocytopenia, Jaundice ORPHA:290
Mogs-Cdg
Hepatomegaly, Optic atrophy, Dystonia, Cardiomegaly, Absent brainstem auditory responses, Left ve... ORPHA:79330
Typhoid
Lethargy, Hepatomegaly, Ataxia, Splenomegaly ORPHA:99745
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural... ORPHA:529799
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Dystonia, Neoplasm of the gallbladder, Orthostatic hypotension due to autonomic dy... ORPHA:309271
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Un... ORPHA:423479
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Optic atrophy, Splenomegaly, Ataxia, EEG abnormality, Elevated hepatic transaminase OMIM:608799
Infantile Neuroaxonal Dystrophy
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Abnormality of periph... ORPHA:35069
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Low-set, posteriorly rotated ears, Splenomegaly, Pancyto... ORPHA:85212
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Anemia, Spleno... ORPHA:158057
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Hepatosplenomegaly, Cho... OMIM:267010
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity OMIM:615272
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Ascites, Cardiomegaly, Splenomegaly, ... OMIM:235200
Cinca Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Pseudopapilledema, Abnormal granulocyte morp... ORPHA:1451
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Cerebral atrophy OMIM:609304
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
White-Sutton Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Rod-cone dystrophy, Cerebral atrophy OMIM:616364
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Difficulty walking, Cholelithiasis ORPHA:464738
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Hepatitis, Absence of lymph node germinal center, Sp... OMIM:308230
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease... OMIM:606003
Myopathy With Extrapyramidal Signs
Hepatomegaly, Leukocytosis, Optic atrophy, Dystonia, Splenomegaly, Hyperactivity, Ataxia, Elevate... OMIM:615673
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Scheie Syndrome
Sensorineural hearing impairment, Hepatomegaly, Abnormal nerve conduction velocity, Splenomegaly ORPHA:93474
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Steinfeld Syndrome
Hearing impairment, Abnormality of the pinna, Absent gallbladder OMIM:184705
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Hepatomegaly, Hyperactivity, Splenomegaly OMIM:252930
Cockayne Syndrome Type 1
Hepatomegaly, Optic atrophy, Abnormality of peripheral nerve conduction, Gait disturbance, Anemia... ORPHA:90321
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, Absent ... ORPHA:171929
Joubert Syndrome 6
Bile duct proliferation, Ataxia, Hepatic fibrosis OMIM:610688
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Abnormal brainstem morphology, Elongated superior cerebellar peduncle ORPHA:370022
Gallbladder Neuroendocrine Tumor
Ascites, Biliary tract obstruction, Biliary tract neoplasm, Chronic noninfectious lymphadenopathy... ORPHA:100086
Achondroplasia
Brain stem compression OMIM:100800
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Stomatocytosis, Acanthocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:109270
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Low-set, posteriorly rotated ears, Cardiomegaly, Cholelithiasis,... ORPHA:97297
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Joubert Syndrome 7
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:611560
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Abnormality of the liver, Aplastic... ORPHA:398124
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure OMIM:615630
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Facial diplegia, Splenomegaly OMIM:205400
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Dystonia, Neutropenia, Macrotia, Splenomegaly, EEG abnormality OMIM:617050
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... ORPHA:400
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Hepatic fibrosis OMIM:612284
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Sensorineural hearing impairment, Macrocytic anemia, Ataxia, Splenomegaly OMIM:619046
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials, Cerebral ... ORPHA:1947
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Ascites, Splenomegaly ORPHA:1046
Chediak-Higashi Syndrome
Hepatomegaly, Gait disturbance, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules... OMIM:214500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309256
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309263
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Hypoplasia of the pons ORPHA:300573
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Adult-Onset Still Disease
Hepatomegaly, Leukocytosis, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... ORPHA:829
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Dystonia, Bone-marrow foam cells, Splenomegaly, Ataxia, Prolonged ne... OMIM:607625
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Gait disturbance, Dystonia, Polycythemia, Micronodular cirrhosis, Bradykinesia, Spl... ORPHA:309854
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Mucopolysaccharidosis, Type Iiid
Hearing impairment, Hepatomegaly, Hyperactivity, Splenomegaly OMIM:252940
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Spl... ORPHA:465508
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Thr... OMIM:300972
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the liver, Viral hepatitis ORPHA:91138
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Global brain atrophy, Optic atrophy OMIM:614225
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft OMIM:617542
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Trisomy 8P
Conductive hearing impairment, Morphological abnormality of the middle ear, Aplasia/Hypoplasia of... ORPHA:264450
Sialidosis Type 1
Gait disturbance, Decreased nerve conduction velocity, Splenomegaly, Sensorineural hearing impair... ORPHA:812
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Polycystic ovaries, He... ORPHA:370
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... OMIM:263200
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... ORPHA:562639
Adult Krabbe Disease
Gait disturbance, Ataxia, EEG abnormality, Broad-based gait, Prolonged brainstem auditory evoked ... ORPHA:206448
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Abnormality of the pinna, Absent gallbladder ORPHA:556955
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Optic atrophy, Optic disc pallor, Ascites, Anemia, Decreased osteoclast count, Sple... OMIM:259720
Sialuria
Hepatomegaly, Attention deficit hyperactivity disorder, Hypoplastic nipples, Splenomegaly OMIM:269921
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Gait disturbance, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neopla... ORPHA:1454
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Thrombocytop... OMIM:251290
Gaucher Disease Type 1
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... ORPHA:77259
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Decreased liver function, Chole... ORPHA:540
Sarcoidosis, Susceptibility To, 2
Facial palsy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Cockayne Syndrome A
Hepatomegaly, Optic atrophy, Abnormal auditory evoked potentials, Thymic hormone decreased, Gait ... OMIM:216400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
22Q11.2 Deletion Syndrome
Conductive hearing impairment, Hypoparathyroidism, Aganglionic megacolon, Optic atrophy, Hypoplas... ORPHA:567
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, Micronodular cirrhosis, ... OMIM:203700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Splenomegaly, Hepatosplenomegaly, Cryptorchidism, ... OMIM:614866
Charcot-Marie-Tooth Disease Type 1F
Steppage gait, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve condu... ORPHA:101085
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons ORPHA:280195
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Adult-Onset Autosomal Dominant Leukodystrophy
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... ORPHA:99027
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Aganglionic megacolon, Splenomegaly ORPHA:3386
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Craniofacioskeletal Syndrome
Cryptorchidism, Microtia, Posteriorly rotated ears, Absent gallbladder OMIM:300712
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Optic atrophy, Anemia, Facial palsy, Splenomegaly, Hearing impairment, Facial paral... OMIM:259700
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... ORPHA:731
Omenn Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Dominant Beta-Thalassemia
Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Sp... ORPHA:231226
Multiple Sulfatase Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly, Sensorineural hearing impairment, Abnormality of perip... ORPHA:585
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, B lymphocytopenia, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Seve... ORPHA:83617
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Ascites, Congenital hepatic fibrosis,... ORPHA:84081
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Optic atrophy, Pancytopenia, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic... OMIM:614576
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Biotinidase Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly, Sensorineural hearing impairment, Ataxia, Lethargy OMIM:253260
Beta-Thalassemia Major
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:231214
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Splenomegal... OMIM:612541
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Posteriorly rotated ears, Absent gallbladder, Microtia, Thrombocytopenia, Cryptorchidism ORPHA:163979
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Ataxia OMIM:619260
Aredyld Syndrome
Abnormal tragus morphology, Hepatomegaly, Low-set, posteriorly rotated ears, Splenomegaly ORPHA:1133
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Abnormality of visual evoked poten... ORPHA:206436
Muckle-Wells Syndrome
Hepatomegaly, Optic atrophy, Anemia, Splenomegaly, Progressive sensorineural hearing impairment ORPHA:575
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Polycystic ovaries, Hepatocellular adenoma, Anem... ORPHA:264580
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Acute... OMIM:618935
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology ORPHA:79279
Steinert Myotonic Dystrophy
Testicular atrophy, Gait disturbance, Fatigable weakness of bulbar muscles, Facial diplegia, Seco... ORPHA:273
Fucosidosis
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder, Hearing impairment ORPHA:349
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology ORPHA:163961
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Ataxia, Hepatosple... OMIM:603553
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hearing impairment, Atresia of the external auditory canal, Absent gallbladder ORPHA:3186
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration, Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrop... ORPHA:2822
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Profound hearing impairment, Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhos... OMIM:619418
Prolidase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:170100
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Sensorineural hearing impairment, Ataxia ORPHA:36412
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal brainstem morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Olivopontocer... ORPHA:370959
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, O... ORPHA:186
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Cln5 Disease
Cerebellar atrophy, Abnormality of visual evoked potentials, Atrophy/Degeneration affecting the c... ORPHA:228360
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... ORPHA:47612
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Ascites, Biliary tract obstruction, Hepatic cysts, Neoplasm of the liver, Intrahepa... ORPHA:100085
Cockayne Syndrome B
Hepatomegaly, Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... OMIM:133540
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Digeorge Syndrome
Parathyroid agenesis, Cholelithiasis, Parathyroid hypoplasia, Abnormality of the thymus, Attentio... OMIM:188400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Ataxia, Thrombocytopenia, Hemoph... OMIM:267700
Triploidy
Hepatomegaly, Abnormality of the gallbladder, Low-set, posteriorly rotated ears, Abnormality of t... ORPHA:3376
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess ORPHA:379
Hardikar Syndrome
Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... OMIM:301068
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Facial palsy, Abnormality of peripheral... ORPHA:252164
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
D-Bifunctional Protein Deficiency
Fetal ascites, Hepatomegaly, Bile duct proliferation, Decreased nerve conduction velocity, Spleno... OMIM:261515
Primary Lipodystrophy
Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:90970
Multiple Sulfatase Deficiency
Hearing impairment, Hepatomegaly, Ataxia, Splenomegaly OMIM:272200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microtia, Abnormality of the pinna, Absent gallbladder OMIM:617925
Pediatric-Onset Graves Disease
Hepatomegaly, Goiter, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Hyperac... ORPHA:525731
Legionnaires Disease
Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Ataxia, Lymp... ORPHA:549
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Aicardi-Goutieres Syndrome 1