Gene: Gsr MGI:95804

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Gene Summary

Name:
glutathione reductase
Synonyms:
Gr-1,  Gr1,  D8Ertd238e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Gsrem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Gsrem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Gsrem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Gsrem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Gsrem1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Human diseases caused by Gsr 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.

The table below shows human diseases associated to Gsr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660

The table below shows human diseases predicted to be associated to Gsr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polycys... ORPHA:730
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Ab... ORPHA:464329
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic steatosis, Neutropeni... OMIM:617303
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular carcinoma, Glomerular sclerosi... OMIM:276700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Coloboma Of Macula
Macular coloboma OMIM:120300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, Hepatic calcification, Hydroneph... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Glycogen Storage Disease Ib
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Neutropenia, Hepat... OMIM:232220
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Increased urinary p... OMIM:618892
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Glycogen Storage Disease Ia
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hepatomegaly, Decr... OMIM:232200
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Abnormal liver lo... OMIM:608022
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Urinary bladder inflammation... ORPHA:449395
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic... ORPHA:251004
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
H Syndrome
Enlarged kidney, Microcytic anemia, Histiocytosis, Hepatosplenomegaly, Micropenis, Abnormality of... ORPHA:168569
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Immunodeficiency 32B
Splenomegaly OMIM:226990
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney ORPHA:276280
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heavy proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Nephrot... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Splenomegaly, Hepatomegaly OMIM:615846
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Renal insuf... ORPHA:108
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia, Renal insufficiency ORPHA:79312
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepatocellular carcinoma, H... ORPHA:79259
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Sialidosis Type 2
Hepatomegaly, Ascites, Nephropathy, Splenomegaly ORPHA:87876
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Cryoglobulinemic Vasculitis
Hematuria, Viral hepatitis, Glomerulopathy, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopat... ORPHA:91138
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Exocrine pancreatic insufficiency, Enlarged kidney, Congenital megaureter, ... ORPHA:116
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Mevalonic Aciduria
Splenomegaly ORPHA:29
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia, Splenomegaly ORPHA:98375
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Abnormal abdomen morphology, Unilateral renal agenesis, Hepatic fibr... OMIM:216360
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic kidney disease, Splenomegaly OMIM:615630
Glycogen Storage Disease Ixc
Hepatomegaly, Bile duct proliferation, Cirrhosis, Splenomegaly OMIM:613027
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Splenomegaly, Anemia, Orotic acid crystalluria, Orotica... ORPHA:30
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Chronic neutropenia, Multicystic kidney dysplas... ORPHA:500095
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, ... ORPHA:39041
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, General... OMIM:251880
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Ascites, Nephrotic syndrome, Proteinuria ORPHA:834
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Spleno... ORPHA:90033
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Hepatomegaly, Jaundice, Cholangitis, Vesicourete... OMIM:612726
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Muckle-Wells Syndrome
Renal amyloidosis, Nephropathy, Hepatomegaly, Splenomegaly, Anemia, Nephrotic syndrome ORPHA:575
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613489
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Absence of renal cort... OMIM:259720
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252920
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Nephrocalcinosis ORPHA:508
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly OMIM:201100
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Gaucher Disease Type 1
Cirrhosis, Hematuria, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Sp... ORPHA:77259
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly OMIM:235200
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hyperechogenic kidneys, Proximal tubulopathy, Unilateral renal agenesis, Cholestasis, ... OMIM:614576
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Polysplenia, Hepatomegaly, Renal cyst, Nephroblastoma, Duplication of renal pelv... OMIM:312870
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Aredyld Syndrome
Hepatomegaly, Abnormality of the ureter, Splenomegaly ORPHA:1133
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Hypocomplementemic Urticarial Vasculitis
Hematuria, Glomerulopathy, Hepatomegaly, Ascites, Splenomegaly, Renal insufficiency, Lymphadenopa... ORPHA:36412
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Renal cortical microcysts, Renal cyst, S... OMIM:614866
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Viral hepatitis, Hepatocellular carcinoma, Sclerosing cholangitis, Ja... ORPHA:2137
Legionnaires Disease
Hematuria, Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Renal insufficiency, Bon... ORPHA:549
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Renal insufficiency OMIM:251290
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutropenia, Thrombocytopenia... ORPHA:47612
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Glomerulopathy, Hepat... ORPHA:77297
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Scrub Typhus
Renal insufficiency, Lymphadenopathy, Splenomegaly ORPHA:83317
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Aminoaciduria, Sideroblastic anemia, B lymphocytopenia, Splenomega... OMIM:616084
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hepatomegaly, Thyroid lymphangiectasia, Hydronephrosis, Pulmonary ly... OMIM:235255
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegal... ORPHA:540
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Prolidase Deficiency
Thrombocytopenia, Prolonged neonatal jaundice, Hepatomegaly, Anemia, Splenomegaly, Hyperimidodipe... OMIM:170100
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Splenomegaly OMIM:608799
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Hypercalciuria, Anemia, Splenomegaly OMIM:239200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Abnormal renal morphology, Hepatomegaly, Hydronephrosis, Pulmonary l... ORPHA:1655
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Myoglobinuria, Ch... ORPHA:370
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Glomerulopathy, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:2348
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252930
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia/aplasia, Splenomegaly OMIM:612918
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Myoglobinuria, Cholestasis, Hepatic fibrosi... ORPHA:264580
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Renal angiomyolipoma, Elevated urine mevalonic acid, Splenomegaly, N... OMIM:260920
Mixed Connective Tissue Disease
Hemolytic anemia, Nephropathy, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopath... ORPHA:809
Oculoskeletodental Syndrome
Mucopolysacchariduria, Hepatomegaly, Hypercalciuria, Splenomegaly, Renal agenesis OMIM:618440
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:92
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252940
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:257220
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Atretic gallbladder, Periportal fibrosis, Cholestasis, Hepatomegaly... ORPHA:30391
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Hepatosplenomegaly OMIM:225750
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233710
Refsum Disease
Renal insufficiency, Splenomegaly ORPHA:773
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:607625
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233690
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, L... OMIM:603553
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:231005
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Cholangiocarcinoma, Splenomegaly... ORPHA:465508
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Hepatitis, Ascites, Splenomegaly ORPHA:584
Pycnodysostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Splenomegaly ORPHA:585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Sialuria
Hepatomegaly, Splenomegaly OMIM:269921
Fucosidosis
Vacuolated lymphocytes, Oligosacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Primary Lipodystrophy
Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly ORPHA:90970
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Hypersplenism, Splenomegaly, Portal hypertension OMIM:613385
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Renal hypoplasia, Lymphopenia, Increased mean platelet volume, Hypopla... ORPHA:84064
Familial Mediterranean Fever
Peritonitis, Renal amyloidosis, Leukocytosis, Hepatomegaly, Nephrotic syndrome, Stage 5 chronic k... OMIM:249100
Multiple Myeloma
Acute kidney injury, Nephropathy, Abnormality of the bladder, Nephrotic syndrome, Anemia, Splenom... ORPHA:29073
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormality of the urinary system, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Mucopolysaccharidosis, Type Vii
Dermatan sulfate excretion in urine, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in uri... OMIM:253220
Hermansky-Pudlak Syndrome 2
Neutropenia, Thrombocytopenia, Hepatomegaly, Reduced natural killer cell count, Absent platelet d... OMIM:608233
Sepsis In Premature Infants
Leukocytosis, Reversible renal failure, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Ol... ORPHA:90051
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Splenomegaly ORPHA:583
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Ascites, Hepatosplenomegaly OMIM:608013
Opsismodysplasia
Hepatomegaly, Splenomegaly ORPHA:2746
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Splenomegaly OMIM:272200
Mucopolysaccharidosis, Type Ii
Dermatan sulfate excretion in urine, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in uri... OMIM:309900
Hurler Syndrome
Enlarged tonsils, Hepatomegaly, Splenomegaly, Urinary glycosaminoglycan excretion, Hepatosplenome... OMIM:607014
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hepatomegaly, Jaundice, Hydronephrosis, Splenomegaly OMIM:608779
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Joubert Syndrome With Hepatic Defect
Cirrhosis, Renal insufficiency, Neoplasm of the liver, Nephropathy, Hepatomegaly, Multicystic kid... ORPHA:1454
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Jaundice, Hepatomegaly, S... ORPHA:525731
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Renal insufficiency, L... ORPHA:33226
Familial Mediterranean Fever
Peritonitis, Nephropathy, Nephrotic syndrome, Ascites, Pancreatitis, Splenomegaly, Nephrocalcinos... ORPHA:342
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Histiocytosis, Pancreatic hypoplasia, Cardiomegaly, Splenomegaly, Retroperitoneal f... OMIM:602782
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Renal artery aneurysm, Leukocytosis, Lymphopenia, Pancytopenia, Hepatomegaly, Spl... OMIM:615688
Primary Sclerosing Cholangitis
Cirrhosis, Renal insufficiency, Hepatocellular carcinoma, Cholelithiasis, Cholestasis, Hepatic fi... ORPHA:171
Mastocytosis
Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly ORPHA:3035
Q Fever
Hematuria, Thrombocytopenia, Hepatomegaly, Hepatitis, Splenomegaly, Anemia, Cholecystitis, Hepato... ORPHA:781
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly ORPHA:3473
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Hepatomegaly, Splenomegaly OMIM:612852
Polycythemia Vera
Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729
Lysinuric Protein Intolerance
Hemophagocytosis, Aminoaciduria, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia... OMIM:222700
Pearson Syndrome
Lacticaciduria, Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steatosis, Macronodul... ORPHA:699
Whipple Disease
Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Splenomegaly ORPHA:3452
Biotinidase Deficiency
Hepatomegaly, Organic aciduria, Splenomegaly OMIM:253260
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Abnormality of the live... ORPHA:1572
Kagami-Ogata Syndrome
Hepatomegaly, Splenomegaly OMIM:608149
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Splenomegaly ORPHA:742
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Gaucher Disease Type 3
Hematuria, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Proteinuria ORPHA:77261
8P11.2 Deletion Syndrome
Spherocytosis, Hemolytic anemia, Hypoplasia of penis, Splenomegaly ORPHA:251066
Hennekam Syndrome
Horseshoe kidney, Lymphopenia, Ectopic kidney, Pulmonary lymphangiectasia, Ascites, Splenomegaly,... ORPHA:2136
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:248500
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Dermatan sulfate excretion in urine, Splenomegaly OMIM:253200
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:613327
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Generalized aminoaciduria, Renal Fanconi syndrome, Polyuria, G... OMIM:219800
Gm1 Gangliosidosis
Hepatosplenomegaly, Splenomegaly ORPHA:354
D-Bifunctional Protein Deficiency
Hepatic steatosis, Fetal ascites, Cholestasis, Hepatomegaly, Renal cyst, Splenomegaly, Bile duct ... OMIM:261515
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly ORPHA:2969
Zimmermann-Laband Syndrome 1
Hepatomegaly, Long penis, Nephrolithiasis, Splenomegaly OMIM:135500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Polycythemia, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension, ... ORPHA:309854
Cranioectodermal Dysplasia 2
Renal insufficiency, Polysplenia, Biliary cirrhosis, Cholestasis, Hepatomegaly, Cholangitis, Rena... OMIM:613610
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Pink urine, Cholelithiasis, Thrombocytopenia, Splenomegaly OMIM:263700
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Unilateral renal agenesis, Hepatomegaly, Urina... ORPHA:90324
Reynolds Syndrome
Hepatomegaly, Jaundice, Biliary cirrhosis, Splenomegaly OMIM:613471
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Horseshoe kidney, Splenomegaly OMIM:617088
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Renal hypoplasia, Periportal fibrosis, Hepatomegaly, Ascites, Splenomegaly OMIM:269860
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Chronic hepatitis, C... ORPHA:3260
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Hydroureter, Polysplenia, Hepatoblastoma, Multicystic kidney dysplasia, Hepa... ORPHA:373
Desmosterolosis
Renal hypoplasia/aplasia, Renal agenesis, Splenomegaly ORPHA:35107
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly, Nephrolithiasis OMIM:608594
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Malformation of the hepatic ductal plate, Abnormalit... OMIM:249000
Triglyceride Deposit Cardiomyovasculopathy
Renal artery atherosclerosis, Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:565612
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:280365
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Abnormality of the tonsils, Splenomegaly ORPHA:579
Dyskeratosis Congenita
Cirrhosis, Abnormality of neutrophils, Thrombocytopenia, Hepatomegaly, Urethral stenosis, Anemia,... ORPHA:1775
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly, Nephrolithiasis OMIM:269700
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Cholelithiasis, Splenomegaly OMIM:618268
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Splenomegaly OMIM:252500
Hurler Syndrome
Hepatomegaly, Mucopolysacchariduria, Abnormality of the tonsils, Splenomegaly ORPHA:93473
Cardiofaciocutaneous Syndrome 1
Hydronephrosis, Splenomegaly OMIM:115150
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomegaly, Splenome... ORPHA:50918
Brucellosis
Thrombocytosis, Intrarenal abscess, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormality of ... ORPHA:1304
Congenital Erythropoietic Porphyria
Red-brown urine, Hemolytic anemia, Purple urine, Reticulocytosis, Erythroid hyperplasia, Thromboc... ORPHA:79277
Pachydermoperiostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:2796
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Mucopolysacchariduria, Heparan sulfate excretion in urine, Hepatomegaly, C... ORPHA:581
Lymphatic Malformation 6
Intestinal lymphangiectasia, Ascites, Splenomegaly OMIM:616843
Cockayne Syndrome A
Thymic hormone decreased, Hepatomegaly, Splenomegaly, Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Hepatoerythropoietic Porphyria
Red-brown urine, Hemolytic anemia, Purple urine, Erythroid hyperplasia, Splenomegaly, Red urine ORPHA:95159
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Splenomegaly OMIM:612301
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Hepat... ORPHA:191
Gaucher Disease
Cirrhosis, Hematuria, Pancytopenia, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomega... ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Anemia, Splenomegaly, Abnormali... ORPHA:2072
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Cholelithiasis, Neoplasm of... ORPHA:77293
22Q11.2 Deletion Syndrome
Multiple renal cysts, Renal hypoplasia, Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymu... ORPHA:567
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Nodular regenerative hyperplasia of liv... ORPHA:404454
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Leukocytosis, Lymphadenopathy, Splenomegaly ORPHA:32960
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Multiple renal cysts, Splenomegaly ORPHA:955
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Pancytopenia, Hepatomegaly, Hypercalciuria, Splenomegaly, Mediastina... OMIM:181000
Mucolipidosis Type Ii
Hepatosplenomegaly, Left ventricular hypertrophy, Splenomegaly ORPHA:576
Mucopolysaccharidosis Type 2, Severe Form
Dermatan sulfate excretion in urine, Enlarged tonsils, Heparan sulfate excretion in urine, Increa... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Dermatan sulfate excretion in urine, Enlarged tonsils, Heparan sulfate excretion in urine, Increa... ORPHA:217093
Okamoto Syndrome
Unilateral renal hypoplasia, Urinary incontinence, Ureteropelvic junction obstruction, Hydronephr... ORPHA:2729
Niemann-Pick Disease Type C
Bone-marrow foam cells, Fetal ascites, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Hepatosplen... ORPHA:646
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Splenomegaly ORPHA:163746
Blau Syndrome
Nephropathy, Lymphadenopathy, Anemia, Splenomegaly, Stage 5 chronic kidney disease, Abnormality o... ORPHA:90340
Behçet Disease
Glomerulopathy, Pancreatitis, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:117
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Camurati-Engelmann Disease
Hepatomegaly, Splenomegaly, Urinary retention, Anemia, Leukopenia ORPHA:1328
Proteasome-Associated Autoinflammatory Syndrome 1