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Gene: Mfsd1 MGI:1914118

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Gene Summary

Name:
major facilitator superfamily domain containing 1
Synonyms:
1200003O06Rik

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
anophthalmia Mfsd1em1(IMPC)Tcp HET Early adult 0.00
decreased leukocyte cell number Mfsd1em1(IMPC)Tcp HOM Early adult 2.45×10-07
enlarged spleen Mfsd1em1(IMPC)Tcp HOM Early adult 0.00
increased red blood cell distribution width Mfsd1em1(IMPC)Tcp HOM Early adult 4.50×10-12
abnormal eye morphology Mfsd1em1(IMPC)Tcp HOM Early adult 0.00
abnormal liver morphology Mfsd1em1(IMPC)Tcp HOM Early adult 0.00
increased circulating alkaline phosphatase level Mfsd1em1(IMPC)Tcp HOM Early adult 0.00
abnormal retina blood vessel morphology Mfsd1em1(IMPC)Tcp HOM   Early adult 9.99×10-05
preweaning lethality, incomplete penetrance Mfsd1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal retina vasculature morphology Mfsd1em1(IMPC)Tcp HOM Early adult 8.95×10-05
small testis Mfsd1em1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Mfsd1em1(IMPC)Tcp HOM Early adult 6.22×10-14
decreased circulating triglyceride level Mfsd1em1(IMPC)Tcp HOM Early adult 7.47×10-05
enlarged lymph nodes Mfsd1em1(IMPC)Tcp HET Early adult 0.00
increased circulating bilirubin level Mfsd1em1(IMPC)Tcp HOM Early adult 0.00
increased circulating aspartate transaminase level Mfsd1em1(IMPC)Tcp HOM Early adult 3.61×10-07
abnormal sternum morphology Mfsd1em1(IMPC)Tcp HOM Early adult 0.00
increased neutrophil cell number Mfsd1em1(IMPC)Tcp HOM Early adult 3.30×10-12
thrombocytopenia Mfsd1em1(IMPC)Tcp HOM Early adult 3.38×10-09
persistence of hyaloid vascular system Mfsd1em1(IMPC)Tcp HOM Early adult 5.78×10-05
increased mean platelet volume Mfsd1em1(IMPC)Tcp HOM Early adult 1.11×10-15

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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.

Eye Morphology

Images Slit Lamp

136 Images

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Eye Morphology

Images Ophthalmoscopy

143 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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Histopathology

Images

28 Images

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Gross Pathology and Tissue Collection

Images

23 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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Human diseases caused by Mfsd1 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 Mfsd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... ORPHA:446
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... ORPHA:369
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:232400
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Howell-Jolly bo... OMIM:613759
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Reti... ORPHA:673
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... ORPHA:79230
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, F... ORPHA:79319
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, ... OMIM:619858
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis ORPHA:280356
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma... ORPHA:1332
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive OMIM:230350
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia, Failure to thrive ORPHA:172
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hepatic failure, L... OMIM:602579
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Mantle Cell Lymphoma
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... OMIM:613490
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... ORPHA:86893
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... OMIM:251880
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:617093
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Myh9-Related Disease
Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus... ORPHA:182050
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro... OMIM:606003
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... OMIM:210250
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Upper limb un... OMIM:169400
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p... OMIM:224120
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Failure to thrive, Absence of CD8-positive T cells OMIM:269840
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnormally low ... OMIM:617341
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... ORPHA:66661
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retinopathy, Hy... ORPHA:3363
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Hep... ORPHA:101330
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Sandhoff Disease
Splenomegaly, Hepatomegaly, Failure to thrive ORPHA:796
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Menorrhagia, Impaired ristocetin-induce... OMIM:231200
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu... OMIM:300972
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity ORPHA:2377
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Atransferrinemia OMIM:209300
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformit... OMIM:610539
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... ORPHA:1414
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Nephronophthisis 16
Enlarged kidney, Periportal fibrosis, Cholestasis OMIM:615382
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau... ORPHA:186
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Broad femoral neck, Cryptorchidism, Giant platelets, Rib fusion, Squared iliac bones... OMIM:611209
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... ORPHA:541423
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Metaphyseal dysplasia, Acute hepatic failure, Neonatal insulin-depend... ORPHA:1667
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Anencephaly 2
Anophthalmia OMIM:619452
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Th... OMIM:603553
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... OMIM:614727
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Avascular necrosis of the capital femo... OMIM:222470
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Failure to thr... OMIM:619487
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis OMIM:601539
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Lathosterolosis
Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volu... OMIM:607330
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Takenouchi-Kosaki Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Increased mean platelet volume, Tapere... OMIM:616737
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Le... OMIM:259720
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... OMIM:619256
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas... ORPHA:171
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Mednik Syndrome
Cirrhosis, Increased circulating very long-chain fatty acid concentration, Hepatic fibrosis, Chol... OMIM:609313
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Cryptorchidism, Ulnar... OMIM:194350
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thr... ORPHA:79312
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Failure to thrive, Hepatic cysts OMIM:618999
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia OMIM:189800
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... OMIM:232800
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... ORPHA:84064
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... ORPHA:858
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... ORPHA:400
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Abnormality of the clit... ORPHA:101028
Bardet-Biedl Syndrome
Hepatic fibrosis, Obesity ORPHA:110
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Hyperbi... ORPHA:713
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... OMIM:613989
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregul... OMIM:602271
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis ORPHA:75563
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Abnormality of the pancreas ORPHA:2924
Donohue Syndrome
Severe failure to thrive, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Leukopenia, Pan... ORPHA:27
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... ORPHA:731
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic ... OMIM:613489
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Rocker bottom foot, Anisocytosis, Camptodactyly OMIM:604273
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Reticulocyt... ORPHA:14
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel... ORPHA:391
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Babesiosis
Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Leukopenia, ... ORPHA:108
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... ORPHA:905
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein... OMIM:614300
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Increased total bilirubin OMIM:174050
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Farber Disease
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... ORPHA:333
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Diabet... OMIM:598500
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red... OMIM:609981
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Horizontal ribs, Cryptorchidism, Hyperhomocystinemia, ... OMIM:614857
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Hodgkin lymphoma, ... OMIM:620282
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney OMIM:200995
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabete... ORPHA:290
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Decreased circulating T4 concentration, Cryptorchidism, Elevated circulating creati... OMIM:608104
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolem... OMIM:212065
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutrope... OMIM:616738
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly OMIM:608540
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... ORPHA:210136
Phosphoglycerate Dehydrogenase Deficiency
Adducted thumb, Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblast... OMIM:249270
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, B lymphocytopenia, ... ORPHA:397596
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:79332
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Axial Osteomalacia
Polycystic liver disease, Elevated circulating creatine kinase concentration OMIM:109130
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... OMIM:277900
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Preeclampsia
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Polycystic ovaries,... ORPHA:275555
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Increased mean platelet volume, Proximal placement of thumb, Tapere... ORPHA:487796
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Abnormal vagina morphology, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm OMIM:240500
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Thrombocyto... OMIM:619751
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... OMIM:619644
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... OMIM:611490
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia ORPHA:37748
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... ORPHA:95717
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... ORPHA:540
Intermediate Osteopetrosis
Thrombocytopenia, Hepatosplenomegaly, Hypocalcemia, Optic atrophy from cranial nerve compression,... ORPHA:210110
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... OMIM:616299
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... ORPHA:158029
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Anterior rib c... OMIM:260400
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... ORPHA:1454
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Noonan Syndrome 12
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... OMIM:618624
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,... OMIM:208500
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... ORPHA:158048
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:300842
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
Mevalonic Aciduria
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Elevated circula... OMIM:610377
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608799
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Adams-Oliver Syndrome
Failure to thrive, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascit... ORPHA:974
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... ORPHA:95716
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri... OMIM:616263
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Cl... ORPHA:229717
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Metaphyseal widening, Optic atrophy, Clubbing, Leuk... OMIM:617303
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Failure to thrive, Lipogranulomatosis OMIM:228000
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia ORPHA:295
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Mirage Syndrome
Hyponatremia, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Hypergonadotropic hypogonadism... OMIM:617053
Lymphangiectasia, Intestinal
Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Neonatal hypoprote... OMIM:152800
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp... ORPHA:263501
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated ... ORPHA:829
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis OMIM:614091
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... OMIM:618048
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... OMIM:619151
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Menorrhagia, Imp... ORPHA:274
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... ORPHA:79277
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis in... ORPHA:464321
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Thrombocytopenia ORPHA:49827
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Optic atrophy, Flared metaphysis, Coxa ... OMIM:259700
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Abnormality of the tonsils ORPHA:93476
Stt3B-Cdg
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia ORPHA:370924
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... ORPHA:398124
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia, Abnormal spleen morphology ORPHA:2470
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia OMIM:615597
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom... ORPHA:163979
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Hepatomegaly OMIM:615637
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb... OMIM:616435
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, P... OMIM:251000
Hijazi-Reis Syndrome
Iris coloboma, Hyperbilirubinemia OMIM:301094
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevat... OMIM:614866
Dk Phocomelia Syndrome
Phocomelia, Thrombocytopenia OMIM:223340
Graft Versus Host Disease
Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ... ORPHA:39812
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Optic atrophy,... OMIM:222300
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... OMIM:257200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Elevated hepatic transaminase, Tapered toe, Elevated circulating creatine... OMIM:608836
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest... ORPHA:292
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... ORPHA:1451
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... OMIM:619685
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... OMIM:617780
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Elevated circulating creatine kinase co... OMIM:301056
Specific Granule Deficiency 2
Absent neutrophil specific granules, Sandal gap, Anemia, Neutropenia, Thrombocytopenia, Brachydac... OMIM:617475
Free Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Ascites, Failure to thrive in infancy ORPHA:834
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... OMIM:617718
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,... OMIM:617591
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flas... OMIM:230800
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... OMIM:613471
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... ORPHA:85212
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail... OMIM:619046
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Pancreatitis, T... OMIM:606054
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ... ORPHA:465508
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers OMIM:616744
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Elevated circula... OMIM:615673
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Hepatomegaly, Lymphopenia, Leukopenia OMIM:620210
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... ORPHA:234
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... OMIM:214500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis, Left ve... OMIM:209900
Diaphanospondylodysostosis
Nephroblastomatosis, Abnormal liver lobulation, Enlarged kidney OMIM:608022
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:615273
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia ORPHA:67048
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... OMIM:619991
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Alg8-Cdg
Hyponatremia, Elevated hepatic transaminase, Optic atrophy, Anemia, Camptodactyly, Ascites, Retin... ORPHA:79325
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat... ORPHA:167
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Hypothyroidism, Anemia OMIM:620184
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:3162
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Optic atrophy, Diaphyseal sclerosis, Hepatosplenomega... OMIM:259710
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:618116
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocyto... OMIM:603585
Fumarase Deficiency
Intrahepatic cholestasis, Mitochondrial swelling, Optic atrophy, Hyperbilirubinemia, Hepatic fail... OMIM:606812
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:617049
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil... OMIM:614886
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Throm... OMIM:614171
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:251110
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... ORPHA:247691
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:33577
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... OMIM:613845
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:614887
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hypocellularit... ORPHA:88
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Hyperbilirubinemia OMIM:619075
Meckel Syndrome 14
Hepatic fibrosis OMIM:619879
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Abnormality of thyroid physiology, Abnormal femoral head morpholo... ORPHA:1830
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Dengue Fever
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein... OMIM:612852
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Elevated circulating cr... ORPHA:90038
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... OMIM:304790
Caspase 8 Deficiency
Splenomegaly, Failure to thrive, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Failure to ... OMIM:276700
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopa... ORPHA:39041
Overlap Myositis
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Diabetes mellitus, El... ORPHA:206572
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... OMIM:617156
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin s... ORPHA:69665
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Hyperhomocystinemia, An... OMIM:277380
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia... OMIM:618775
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... OMIM:185070
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia ORPHA:2930
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Syndactyly, Cholangitis, Splenomegaly, Postaxial han... OMIM:613610
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... OMIM:618886
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Cirrhosis,... ORPHA:77259
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Decreased circulating T4 concent... ORPHA:90674
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... ORPHA:79083
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggrega... OMIM:608233
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... OMIM:266920
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Radial deviation of finger, Thrombocytopenia OMIM:188025
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... ORPHA:168577
Felty Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... ORPHA:47612
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Anterior rib cupping, Metaphyseal widening, Genu varum, Steatorr... OMIM:617941
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia OMIM:239200
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, C... OMIM:124000
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Hydrocele testis, Slender long bone, Increased serum testosterone level, Rod-co... ORPHA:96181
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Hepatosplenome... ORPHA:2072
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Refractory anemia with ringed sideroblasts, Cachexia ORPHA:1133
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Decreased serum zinc, Failure to thrive OMIM:201100
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp... ORPHA:464329
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:256550
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic f... OMIM:218330
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:251100
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... ORPHA:1572
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... OMIM:615710
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... ORPHA:99901
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis, Hamartoma of tongue OMIM:263520
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Lymphopenia, Anemia OMIM:620365
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:252920
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Elevated ci... ORPHA:99829
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... OMIM:170100
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Delayed proximal femoral e... ORPHA:90673
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Clinodactyly, Hypogonadism, Neonatal hyperbilirubinemia ORPHA:73272
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Alg12-Cdg
Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Elevated hepatic ... ORPHA:79324
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... OMIM:227810
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased serum insu... ORPHA:77293
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Polycythemia Vera
Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypocalcemia OMIM:618440
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... OMIM:613179
Boutonneuse Fever
Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocyto... ORPHA:83313
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Schimke Immunoosseous Dysplasia
Pancytopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentr... OMIM:242900
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidis... OMIM:613990
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... OMIM:603903
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Periportal fibrosis, Ascites OMIM:269860
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Sengers Syndrome
Premature ovarian insufficiency, Thrombocytopenia OMIM:212350
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Intrahepatic bile duct dilatati... OMIM:619534
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Thrombocytopenia OMIM:615750
Sepsis In Premature Infants
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:90051
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... ORPHA:2785
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutrope... ORPHA:520
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundic... ORPHA:525731
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hepatic failure ORPHA:49566
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis ORPHA:2348
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Ataxia-Telangiectasia
Elevated hepatic transaminase, Diabetes mellitus, Abnormal testis morphology, Polycystic ovaries,... ORPHA:100
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Ogden Syndrome
Congenital hip dislocation, Sandal gap, Broad hallux, Maternal diabetes, Cardiomegaly, Metatarsus... OMIM:300855
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Orofaciodigital Syndrome I
Hamartoma of tongue, Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Hepatic cysts OMIM:311200
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorch... OMIM:600901
Trisomy 1Q
Anophthalmia ORPHA:261344
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... OMIM:605432
Degcags Syndrome
Hepatomegaly, Pancytopenia, Syndactyly, Toe syndactyly, Hypospadias, Congenital hypoplastic anemi... OMIM:619488
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Fa... OMIM:251290
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Shor... OMIM:227650
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Micro... OMIM:617575
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... ORPHA:2307
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Congenital Disorder Of Glycosylation, Type Iic
Short foot, Brachydactyly, Neutrophilia, Reduction of neutrophil motility OMIM:266265
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas... OMIM:274150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Megaloblastic anemia, Thrombocytopen... ORPHA:79282
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Braddock-Carey Syndrome 2
Clinodactyly, Thrombocytopenia OMIM:619981
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Portal hypertension, Cholestasis, Bil... OMIM:613658
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... OMIM:222700
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia OMIM:614520
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Rod-cone dystrophy, Optic atrophy, Thrombocytopenia OMIM:617710
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen OMIM:601186
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secretion, Cardiome... ORPHA:79330
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly OMIM:252900
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Lymphopenia OMIM:605309
Distal Xq28 Microduplication Syndrome
Metatarsus adductus, Clinodactyly, Hypothyroidism, Neonatal hyperbilirubinemia ORPHA:293939
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy OMIM:612387
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Lig4 Syndrome
Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Type II diabetes mellitus, Clinodacty... OMIM:606593
Sarcoidosis
Hepatomegaly, Hemolytic anemia, Hypercalcemia, Portal hypertension, Eosinophilia, Thrombocytopeni... ORPHA:797
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia ORPHA:169090
Necrotizing Enterocolitis
Hyponatremia, Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia ORPHA:391673
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... OMIM:235255
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N... ORPHA:348
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia... ORPHA:521219
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Overlapping toe, Hypospadias, Cryptorchidism, Clubbing of ... ORPHA:163956
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... ORPHA:160
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopen... ORPHA:508542
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration OMIM:313200
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced plate... OMIM:614074
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Ascites, Hypoalbumine... ORPHA:90362
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome... ORPHA:251066
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulat... OMIM:615688
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorch... OMIM:227645
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Cryptorchidism,... OMIM:603467
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype... OMIM:616028
Johanson-Blizzard Syndrome
Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot... OMIM:243800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... OMIM:619743
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Thin ribs, Ascites, Thrombocytopenia OMIM:617397
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Thrombocytopenia ORPHA:449285
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno... ORPHA:1655
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Smith-Kingsmore Syndrome
Short proximal phalanx of finger, Cryptorchidism, Thrombocytopenia, Short distal phalanx of finger OMIM:616638
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... OMIM:232220
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... OMIM:127550
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hype... ORPHA:3008
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:608779
Immunodeficiency 22
Abscess, Retinal vasculitis, Anemia, Decreased proportion of CD4-positive helper T cells, Ascites... OMIM:615758
Fanconi Anemia, Complementation Group B
Aplastic anemia, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Absent thumb, Bilateral r... OMIM:300514
Scheie Syndrome
Splenomegaly, Hepatomegaly ORPHA:93474
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3386
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... ORPHA:565612
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Preaxial ... OMIM:227646
Bacterial Toxic-Shock Syndrome
Abscess, Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating cr... ORPHA:36234
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Splenomegaly, Prolonged neonatal... OMIM:225750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Braddock-Carey Syndrome 1
Clinodactyly, Small hand, Thrombocytopenia, Camptodactyly OMIM:619980
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Erythroid hypoplasia, Short toe, Preaxial hand polydac... OMIM:620072
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia ORPHA:79242
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia ORPHA:3318
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Proximal placement of thumb, Cryptorchidism, Hip dysplasia, Increased mea... ORPHA:261250
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-... ORPHA:50918
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Jacobsen Syndrome
Hypospadias, Missing ribs, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Macular hypoplasia... OMIM:147791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, Micropenis, Short metacarp... OMIM:210710
Legionnaires Disease
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly... ORPHA:549
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepatic failure, ... OMIM:608013
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thrombocytopenia, Optic atrophy, Hepatosplenomegaly, Leukope... ORPHA:505248
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Broad hallux, Iris coloboma, Optic disc coloboma, Congenita... OMIM:620186
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... OMIM:249100
Shigellosis
Hyponatremia, Abscess, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, ... ORPHA:810
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal... ORPHA:2298
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Hyperammonemia OMIM:253260
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... OMIM:620185
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... OMIM:616005
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... OMIM:615934
Whipple Disease
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia ORPHA:3452
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Vexas Syndrome
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia OMIM:301054
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... OMIM:250250
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Hepatomegaly, Failure to thrive, Sea-blue histiocytosis OMIM:230600
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Absent thumb, Erythroid hypoplasia, S... ORPHA:124
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophil... ORPHA:3260
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto... ORPHA:93552
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Intrahepatic cholestasis, Postaxial hand polyd... ORPHA:46059
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepatomegaly, Neut... ORPHA:99827
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hepatic cysts ORPHA:79328
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... OMIM:256040
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Optic atrophy, Genu valg... OMIM:612199
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia OMIM:611126
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:881
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... ORPHA:169160
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Elevated hepatic transaminase, Hypospadias, Iris coloboma, Abnormal abdomen morpho... OMIM:619475
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration OMIM:614204
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt... ORPHA:1775
Cornelia De Lange Syndrome 1
Hypospadias, Proximal placement of thumb, Cryptorchidism, Optic disc coloboma, Optic atrophy, Hyp... OMIM:122470
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia OMIM:616271
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatospl... ORPHA:781
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... ORPHA:71493
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Neoplasm of the skin ORPHA:53715
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow grea... OMIM:617425
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, He... ORPHA:391487
Rift Valley Fever
Elevated hepatic transaminase, Retinitis, Thrombocytopenia, Jaundice, Hepatitis, Retinal hemorrha... ORPHA:319251
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Leukocytosi... ORPHA:319213
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... ORPHA:37042
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Reticulocytosis, Elevated circulating creatine kinase concentratio... ORPHA:99826
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Failure to thrive, Juvenile coloni... ORPHA:2929
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone concentration, ... OMIM:305400
Fanconi Anemia
Abnormal femur morphology, Leukopenia, Abnormality of the liver, Abnormality of the uterus, Triph... ORPHA:84
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thrombocytopenia, ... ORPHA:169105
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... OMIM:607625
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocyto... ORPHA:36238
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Holoprosencephaly
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2162
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... ORPHA:94093
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hamartomatous polyposis, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformation,... OMIM:175050
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:230900
Dubowitz Syndrome
Hypoparathyroidism, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Hypospadias, Abn... ORPHA:235
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Camurati-Engelmann Disease
Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ul... ORPHA:1328
Pgm3-Cdg
Hemolytic anemia, Brachydactyly, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... ORPHA:443811
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly OMIM:231005
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Quebec Platelet Disorder
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Weig... ORPHA:29073
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple... OMIM:615846
Hermansky-Pudlak Syndrome 10
Splenomegaly, Hepatomegaly, Neutropenia OMIM:617050
Catastrophic Antiphospholipid Syndrome
Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, ... ORPHA:464343
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal... OMIM:251260
Recon Progeroid Syndrome
Arachnodactyly, Proximal placement of thumb, Anemia, Long thumb, Thrombocytopenia OMIM:620370
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri... OMIM:229600
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Multiple rib fractures, Femur fracture, Splenomegaly, Optic atrophy, Hypocalcemic s... OMIM:612301
Gaucher Disease
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopen... ORPHA:355
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent... OMIM:263700
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Von Willebrand Disease, Type 3
Menorrhagia, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Vici Syndrome
Macular atrophy, Elevated circulating creatine kinase concentration, Decreased proportion of CD4-... OMIM:242840
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... ORPHA:261323
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:617099
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Lesch-Nyhan Syndrome
Testicular atrophy, Hip dislocation, Hyperuricemia, Megaloblastic anemia OMIM:300322
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Increased femoral anteversion, ... OMIM:619005
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hy... OMIM:105650
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Leptospirosis
Papilledema, Hepatomegaly, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy, Chorioretini... ORPHA:509
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Optic atrophy, Anemi... OMIM:305000
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-f... OMIM:208900
Noonan Syndrome 4
Cryptorchidism, Thrombocytopenia OMIM:610733
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... OMIM:260920
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia OMIM:253270
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hepatomegaly, Failure to thrive OMIM:612132
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope... OMIM:616084
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Tapered finger, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Ascites, Thr... OMIM:301072
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia, Hypoplasia... OMIM:612394
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met... OMIM:607944
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Missing ribs, Cryptorchidism, Short toe,... ORPHA:2308
Tick-Borne Encephalitis
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Leukocytosi... ORPHA:297
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Thrombocytopenia, Cryp... ORPHA:534
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Abnormal vagina morpho... ORPHA:537
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Thyro... ORPHA:289390
Fusariosis
Brain abscess, Lung abscess, Abnormal retinal morphology, Abnormality of the spleen, Peritonitis,... ORPHA:228119
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Thrombocytopenia ORPHA:77261
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Short hallux, Conjugated hyper... OMIM:620305
Pmm2-Cdg
Elevated hepatic transaminase, Reduced thyroxin-binding globulin, Abnormal liver parenchyma morph... ORPHA:79318
Stevens-Johnson Syndrome
Acute hepatic failure, Dyspareunia, Elevated hepatic transaminase, Abnormality of neutrophils, Th... ORPHA:36426
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... ORPHA:293173
Wars2-Related Combined Oxidative Phosphorylation Defect
Rod-cone dystrophy, Thrombocytopenia ORPHA:572798
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Prea... OMIM:603671
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Lenticonus, Thrombocytopenia, Anterior lenticonus OMIM:301050
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Arachnodactyly, Abnormality of the tonsils, Abnormality of t... ORPHA:567
Fraser Syndrome 1
Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos OMIM:219000
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Elevated circulating C-reactive protein c... OMIM:619381
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Splenomegaly, Abnormal rib morphology, Lymphadenopathy, H... ORPHA:667
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nephroblastoma, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly,... ORPHA:116
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... ORPHA:544482
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Chylous ascites, Hypoa... ORPHA:90363
Systemic Lupus Erythematosus
Hemolytic anemia, Lymphadenopathy, Leukopenia, Retinopathy, Thrombocytopenia ORPHA:536
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg... ORPHA:64
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Leukocytosis, Elevated circulating creatinine concentration, Hyper... ORPHA:340
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ... ORPHA:79078
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia ORPHA:935
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocytopenia, Splenome... OMIM:188400
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Acute Liver Failure
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hy... ORPHA:90062
Oculo-Palato-Cerebral Syndrome
Short foot, Retinal detachment, Remnants of the hyaloid vascular system, Small hand ORPHA:2714
Osteogenesis Imperfecta
Multiple rib fractures, Bowing of the long bones, Protrusio acetabuli, Fractures of the long bone... ORPHA:666
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Aplasia/Hypoplasia of the thymus OMIM:214800
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Telangiectasia, Hereditary Hemorrhagic, Type 2
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis OMIM:600376
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Rod-cone dystrophy, Neonatal hyperbilirubinemia OMIM:300896
Branchiooculofacial Syndrome
Microphthalmia, Ectopic thymus tissue, Anophthalmia OMIM:113620
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomeg... ORPHA:51
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites ORPHA:75565
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
X-Linked Intellectual Disability, Snyder Type
Long toe, Arachnodactyly, Hypospadias, Cryptorchidism, Slender toe, Abnormality of the Leydig cel... ORPHA:3063
Telangiectasia, Hereditary Hemorrhagic, Type 1
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis OMIM:187300
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypercholesterolemia, De... ORPHA:273
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... ORPHA:637
Norrie Disease
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... ORPHA:649
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Prominent fingertip pads, Remna... OMIM:619539
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Craniorachischisis
Bifid sternum ORPHA:63260
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Cyclopia, Di... OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH pathological process term hyperplasia Mfsd1em1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term bridging necrosis Mfsd1em1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological entity term hemorrhage and non-specified extravasation Mfsd1em1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological entity term synechia Mfsd1em1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term fibrosis Mfsd1em1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological process term developmental dysplasia Mfsd1em1(IMPC)Tcp HOM Early adult
Spleen - MPATH pathological entity term splenomegaly Mfsd1em1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mfsd1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP. eLife (October 2019) Mfsd1tm1a(KOMP)Wtsi) Mfsd1tm1d(KOMP)Wtsi Mfsd1tm1c(KOMP)Wtsi PMC6819133

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mfsd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mfsd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mfsd1em1(IMPC)Tcp Exon Deletion Mice

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