Gene Summary

Name:
lysine (K)-specific methyltransferase 2C
Synonyms:
E330008K23Rik,  HALR,  Mll3

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
enlarged spleen Kmt2cem2(IMPC)Marc HET Early adult 0.00
abnormal bone structure Kmt2cem2(IMPC)Marc HET Early adult 2.11×10-06
increased bone mineral content Kmt2cem2(IMPC)Marc HET Early adult 1.90×10-06
abnormal retina morphology Kmt2cem2(IMPC)Marc HET   Early adult 9.94×10-07
preweaning lethality, complete penetrance Kmt2cem2(IMPC)Marc HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Kmt2c 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 Kmt2c by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Kleefstra Syndrome 2
Growth delay, Thick eyebrow OMIM:617768
Kleefstra Syndrome Due To A Point Mutation
Abnormal shape of the palpebral fissure, Short stature ORPHA:261652

The table below shows human diseases predicted to be associated to Kmt2c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Pyknoachondrogenesis
Stillbirth OMIM:265880
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly ORPHA:882
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Bone ... OMIM:618889
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Hyperlipoproteinemia, Type Id
Hepatomegaly, Lipemia retinalis, Splenomegaly OMIM:615947
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy OMIM:615085
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79303
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Short stature, Postnatal growth retardation OMIM:616113
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Hepatosplenomegaly, Anemia, Splen... OMIM:611490
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Splenomegaly OMIM:602271
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Reduced bone mineral density, Jaundice, Splenomegaly ORPHA:172
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79301
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Abnormal macular morphology, Sea-blue histiocytosis, Hepatomegaly, Spleno... OMIM:607616
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Duplicated lacrimal punctum, Female infertility, Secondary amenorrhea, Punctal stenosis, Blepharo... ORPHA:572333
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Blepharophimosis, Amenorrhea, Irregular menstruation, Female infertility, ... OMIM:110100
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Short stature, Male infertility... ORPHA:261529
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Splenomegaly ORPHA:796
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, He... OMIM:612840
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Indolent Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast... ORPHA:98848
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Osteopenia, Anemia, Splenomegaly OMIM:618107
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
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
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly, Anemia, Splenomegaly... ORPHA:2785
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Anemia of inadequate production, Anemi... OMIM:612714
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Lymphangioma, Facial hyperostosis, Calva... OMIM:176920
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Sialidosis Type 2
Osteoporosis, Abnormal macular morphology, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Reduced b... ORPHA:1414
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Farber Lipogranulomatosis
Hepatomegaly, Cherry red spot of the macula, Lipogranulomatosis, Splenomegaly OMIM:228000
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly, ... ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Classic Hodgkin Lymphoma
Osteolysis, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Osteopenia OMIM:269920
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Neuraminidase Deficiency
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly,... OMIM:256550
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia... ORPHA:86843
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Beta-Thalassemia Intermedia
Osteoporosis, Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Elevated hepatic iron concent... ORPHA:231222
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... OMIM:259700
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Gamma-Heavy Chain Disease
Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphol... ORPHA:100026
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Rickets, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:607765
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Cinca Syndrome
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Abnormal granulocyte morpho... ORPHA:1451
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Abnormality of the optic nerve, Thrombocytopenia, Hepa... ORPHA:3226
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Essential Thrombocythemia
Acute leukemia, Abnormal platelet morphology, Myelofibrosis, Splenomegaly ORPHA:3318
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
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
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocyt... OMIM:259720
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Niemann-Pick Disease, Type A
Osteoporosis, Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Pr... OMIM:257200
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Ascites, Aplastic anemia, Splenomegaly, Hepatosplen... OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Optic atrophy ORPHA:79312
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Immunodeficiency 32B
Splenomegaly OMIM:226990
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Hemochromatosis, Type 1
Osteoporosis, Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:235200
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
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
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Gray Platelet Syndrome
Thrombocytopenia, Myelofibrosis, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Hepatomega... ORPHA:77259
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Mucopolysaccharidosis, Type Iiic
Rod-cone dystrophy, Splenomegaly, Dense calvaria, Hepatomegaly OMIM:252930
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Congenital Disorder Of Glycosylation, Type Ie
Abnormal macular morphology, Hepatomegaly, Splenomegaly, Optic atrophy, Retinopathy OMIM:608799
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Dense calvaria, Splenomegaly OMIM:252900
Aromatase Deficiency
Hypergonadotropic hypogonadism, Growth delay, Primary amenorrhea, Female infertility, Male infert... ORPHA:91
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Free Sialic Acid Storage Disease
Hepatomegaly, Reduced bone mineral density, Ascites, Splenomegaly ORPHA:834
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Dense calvaria, Splenomegaly OMIM:252920
Roifman Syndrome
Retinal dystrophy, Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy OMIM:616651
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epiphyseal stippling, Pigmentary retinopathy, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaun... OMIM:614866
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Lipemia retinalis, Pancreatitis, Splenomegaly OMIM:207750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Periostitis, Hepatomegaly, Splenomegaly, Neutrophilia, Osteopenia OMIM:612852
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration, Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:615630
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification OMIM:602557
Alpha-Mannosidosis
Craniofacial hyperostosis, Splenomegaly, Hepatomegaly ORPHA:61
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Felty Syndrome
Osteolysis, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, ... ORPHA:47612
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Gaucher Disease, Type I
Macular atrophy, Thrombocytopenia, Pancytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Mevalonic Aciduria
Splenomegaly ORPHA:29
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hepatomegaly, Optic nerve compression, Anemia... OMIM:612301
Proteus-Like Syndrome
Hyperostosis, Thymus hyperplasia, Retinal detachment, Splenomegaly ORPHA:2969
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Kaposiform Lymphangiomatosis
Osteolysis, Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spl... ORPHA:464329
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Sagittal craniosynostosis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatit... OMIM:610199
Aredyld Syndrome
Craniofacial hyperostosis, Splenomegaly, Hepatomegaly ORPHA:1133
Pycnodysostosis
Osteolysis, Hepatomegaly, Abnormal pelvis bone ossification, Anemia, Splenomegaly ORPHA:763
Glycogen Storage Disease Ixc
Hepatomegaly, Bile duct proliferation, Cirrhosis, Splenomegaly OMIM:613027
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thromb... ORPHA:98849
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Familial Tumoral Calcinosis
Hyperostosis, Splenomegaly, Hepatomegaly ORPHA:53715
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Hyperlipoproteinemia, Type I
Jaundice, Pancreatitis, Splenomegaly, Lipemia retinalis, Hepatosplenomegaly OMIM:238600
Beta-Thalassemia Major
Osteoporosis, Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Cranial hyperostosis, Splenomegaly OMIM:612918
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613489
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Ocular albi... OMIM:214500
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Splenomegaly ORPHA:3035
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Prolidase Deficiency
Hepatomegaly, Reduced bone mineral density, Abnormality of retinal pigmentation, Splenomegaly ORPHA:742
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Hurler Syndrome
Enlarged tonsils, Retinal degeneration, Hepatomegaly, Splenomegaly, Calvarial hyperostosis, Hepat... OMIM:607014
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Increased bone minera... ORPHA:77297
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly OMIM:201100
Sialidosis Type 1
Cherry red spot of the macula, Retinopathy, Splenomegaly ORPHA:812
Opsismodysplasia
Hepatomegaly, Abnormally ossified vertebrae, Splenomegaly ORPHA:2746
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy, Splenomegaly ORPHA:773
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Cholangiocarcinoma... ORPHA:465508
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Hardikar Syndrome
Pigmentary retinopathy, Hepatomegaly, Jaundice, Chorioretinal degeneration, Cholangitis, Splenome... OMIM:612726
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Optic atrophy, Splenomegaly ORPHA:585
Mastocytosis
Osteoporosis, Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Mixed Connective Tissue Disease
Osteolysis, Hemolytic anemia, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:809
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Muckle-Wells Syndrome
Hepatomegaly, Optic atrophy, Anemia, Splenomegaly ORPHA:575
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Splenomegaly, Portal hypertension, Acute leukemia ORPHA:729
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Optic atrophy OMIM:614576
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Lymphadenopathy, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Rod... OMIM:260920
Coach Syndrome 1
Cirrhosis, Abnormal abdomen morphology, Hepatic fibrosis, Hepatomegaly, Intrahepatic bile duct di... OMIM:216360
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Retinopathy of prematurity, Abnormal retinal vascular morph... ORPHA:354
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Cholestasis, Hepatic fibrosis... ORPHA:264580
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Macrovesicular hepatic steatosis, Chorioretinal hypopigmentation, Neutropenia, T... OMIM:617303
Mucopolysaccharidosis Type 7
Hepatitis, Epiphyseal stippling, Ascites, Splenomegaly ORPHA:584
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Turner Syndrome Due To Structural X Chromosome Anomalies
Growth delay, Epicanthus, Postnatal growth retardation, Primary amenorrhea, Female infertility, D... ORPHA:99413
Turner Syndrome
Growth delay, Epicanthus, Postnatal growth retardation, Primary amenorrhea, Female infertility, D... ORPHA:881
Mosaic Monosomy X
Growth delay, Epicanthus, Postnatal growth retardation, Primary amenorrhea, Female infertility, D... ORPHA:99228
Monosomy X
Growth delay, Epicanthus, Postnatal growth retardation, Primary amenorrhea, Female infertility, D... ORPHA:99226
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Viral hepatitis, Hepatocellular carcinoma, Sclerosing cholangitis, Ja... ORPHA:2137
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Hepatic steatosis, Hepatomegaly, Splenomegaly, Osteopenia OMIM:613327
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Multiple Sulfatase Deficiency
Hepatomegaly, Retinal degeneration, Splenomegaly OMIM:272200
Pachydermoperiostosis
Osteoporosis, Osteolysis, Abnormal cortical bone morphology, Hepatomegaly, Anemia, Splenomegaly ORPHA:2796
Pediatric-Onset Graves Disease
Craniosynostosis, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Jaundic... ORPHA:525731
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, B lymphocytopenia, Splenomeg... OMIM:616084
Primary Sclerosing Cholangitis
Osteoporosis, Cirrhosis, Hepatocellular carcinoma, Portal hypertension, Cholelithiasis, Cholestas... ORPHA:171
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Gaucher Disease
Abnormal macular morphology, Osteolysis, Cherry red spot of the macula, Cirrhosis, Increased bone... ORPHA:355
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Cholestatic liver diseas... ORPHA:540
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Ocular albinism, Neutropenia, Splenomegaly OMIM:617050
Hermansky-Pudlak Syndrome 2
Ocular albinism, Neutropenia, Thrombocytopenia, Hepatomegaly, Reduced natural killer cell count, ... OMIM:608233
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly OMIM:251290
Prolidase Deficiency
Thrombocytopenia, Prolonged neonatal jaundice, Hepatomegaly, Anemia, Splenomegaly OMIM:170100
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Hepatosplenomegaly OMIM:225750
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Osteopenia OMIM:263700
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:2348
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormality of retinal pigmentation, Papilledema, Splenomegaly OMIM:309900
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Abnormal retinal vascular morphology... ORPHA:33226
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Legionnaires Disease
Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellularity, Lympha... ORPHA:549
Gm1-Gangliosidosis, Type I
Hepatomegaly, Cherry red spot of the macula, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia,... ORPHA:77261
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
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
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly ORPHA:36412
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:92
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hepatomegaly, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, ... OMIM:235255
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Retinal degeneration, Vacuolated lymphocytes OMIM:248500
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Cholestasis, Hepa... ORPHA:370
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:257220
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, L... OMIM:603553
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
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
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Pigmentary retinopathy, Craniofacial hyperostosis, Retinal degeneration, H... ORPHA:581
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Hepatomegaly, Hepatosplenomegaly, Spleno... OMIM:615688
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Sclerosis of finger phalanx, Pigmentary retinopathy, Microvesicular hepat... ORPHA:404454
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Splenomegaly, Ascites, Cardiomegaly, Anemia, Hepatosplenomegaly OMIM:608013
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Retinal degeneratio... ORPHA:580
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:607625
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Hypersplenism, Splenomegaly, Portal hypertension OMIM:613385
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Hypophosphatemic rickets, Hepatocellular carcinoma, Hepatomegaly, Asc... OMIM:276700
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
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Niemann-Pick Disease Type B
Osteoporosis, Cirrhosis, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Cholelithiasi... ORPHA:77293
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormality of retinal pigmentation, ... ORPHA:167
Sialuria
Hepatomegaly, Splenomegaly OMIM:269921
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
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly OMIM:252940
Biotinidase Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:253260
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatomegaly, Pulmonary lymphangiectasia, Ascites, Splenomegaly, Hep... ORPHA:1655
Isolated Biliary Atresia
Cirrhosis, Atretic gallbladder, Periportal fibrosis, Cholestasis, Hepatomegaly, Jaundice, Prolong... ORPHA:30391
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Osteopetrosis, Hepatomegaly, Reduced bone mineral density, Optic nerve compress... ORPHA:667
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenom... ORPHA:280365
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:231005
Sarcoidosis, Susceptibility To, 1
Bone cyst, Generalized lymphadenopathy, Chorioretinitis, Pancytopenia, Hepatomegaly, Optic neurop... OMIM:181000
Primary Lipodystrophy
Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly ORPHA:90970
Lysinuric Protein Intolerance
Osteoporosis, Hemophagocytosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia,... OMIM:222700
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Myelofibrosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Chron... ORPHA:3260
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly ORPHA:3473
Desmosterolosis
Splenomegaly, Osteopetrosis, Increased bone mineral density ORPHA:35107
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Whipple Disease
Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Splenomegaly ORPHA:3452
Camurati-Engelmann Disease
Craniofacial osteosclerosis, Cortical thickening of long bone diaphyses, Hyperostosis, Hepatomega... ORPHA:1328
8P11.2 Deletion Syndrome
Splenomegaly, Hemolytic anemia, Spherocytosis, Retinal dystrophy ORPHA:251066
Fucosidosis
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230000
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Pigmentary retinopathy, Rickets, Hypophosphatemic rickets, Ret... OMIM:219800
Multiple Myeloma
Osteopenia, Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Optic atrophy, Retinopathy, Splenomegaly ORPHA:579
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Cirrhosis, Optic disc coloboma, Neoplasm of the liver, Hepatomegaly, Cong... ORPHA:1454
Kagami-Ogata Syndrome
Hepatomegaly, Splenomegaly OMIM:608149
Hepatoerythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Erythroid hyperplasia, Splenomegaly, Osteopenia ORPHA:95159
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Histiocytosis, Pancreatic hypoplasia, Cardiomegaly, Splenomegaly, Retroperitoneal f... OMIM:602782
Cardiofaciocutaneous Syndrome 1
Osteopenia, Optic nerve dysplasia, Splenomegaly OMIM:115150
D-Bifunctional Protein Deficiency
Hepatic steatosis, Fetal ascites, Cholestasis, Hepatomegaly, Splenomegaly, Osteopenia, Bile duct ... OMIM:261515
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Thrombo... ORPHA:731
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Osteopenia, Cardiomegaly, Splenomegaly OMIM:252500
Q Fever
Thrombocytopenia, Hepatomegaly, Hepatitis, Splenomegaly, Anemia, Cholecystitis, Hepatosplenomegal... ORPHA:781
Cockayne Syndrome A
Pigmentary retinopathy, Thymic hormone decreased, Retinal pigment epithelial mottling, Hepatomega... OMIM:216400
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatic steatosis, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Sple... OMIM:608594
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Dyskeratosis Congenita
Osteoporosis, Cirrhosis, Abnormality of neutrophils, Coarse metaphyseal trabecularization, Thromb... ORPHA:1775
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:90051
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytope... ORPHA:79277
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Splenomegaly OMIM:253220
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Abnormality of the live... ORPHA:1572
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatic steatosis, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Sple... OMIM:269700
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Anemia, Splenomegaly OMIM:239200
Pearson Syndrome
Exocrine pancreatic insufficiency, Pigmentary retinopathy, Reticulocytosis, Hepatic steatosis, Ma... ORPHA:699
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly OMIM:618440
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Enlarged tonsils, I... ORPHA:217085
Cockayne Syndrome B
Osteoporosis, Pigmentary retinopathy, Hepatomegaly, Ivory epiphyses of the phalanges of the hand,... OMIM:133540
Cockayne Syndrome Type 3
Retinal atrophy, Retinal degeneration, Retinal dystrophy, Hepatomegaly, Splenomegaly, Retinal hem... ORPHA:90324
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Enlarged tonsils, I... ORPHA:217093
Mucopolysaccharidosis Type 6
Splenomegaly ORPHA:583
Hurler Syndrome
Hepatomegaly, Abnormality of the tonsils, Retinopathy, Splenomegaly ORPHA:93473
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Jaundice, Splenomegaly OMIM:608779
Hajdu-Cheney Syndrome
Osteoporosis, Osteolysis, Coarse metaphyseal trabecularization, Hepatomegaly, Decreased skull oss... ORPHA:955
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Polycythemia, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension, ... ORPHA:309854
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus,... ORPHA:84064
Cockayne Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy, Retinal degeneratio... ORPHA:191
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Cranioectodermal Dysplasia 2
Craniosynostosis, Polysplenia, Biliary cirrhosis, Cholestasis, Hepatomegaly, Cholangitis, Left ve... OMIM:613610
Hennekam Syndrome
Craniosynostosis, Lymphopenia, Pulmonary lymphangiectasia, Ascites, Splenomegaly, Lymphangioma, L... ORPHA:2136
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Splenomegaly OMIM:253200
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Cholelithiasis, Splenomegaly OMIM:618268
Proteus Syndrome
Chorioretinal coloboma, Abnormality of retinal pigmentation, Craniosynostosis, Thymus hyperplasia... ORPHA:744
Mucolipidosis Type Ii
Craniosynostosis, Left ventricular hypertrophy, Hepatosplenomegaly, Splenomegaly ORPHA:576
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Cholelithiasis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Anemia, Splenomega... ORPHA:2072
Reynolds Syndrome
Hepatomegaly, Jaundice, Biliary cirrhosis, Splenomegaly OMIM:613471
Blau Syndrome
Retrobulbar optic neuritis, Abnormality of the optic nerve, Abnormal choroid morphology, Abnormal... ORPHA:90340
Brucellosis
Thrombocytosis, Leukocytosis, Chorioretinitis, Thrombocytopenia, Hepatomegaly, Abnormality of the... ORPHA:1304
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomegaly, Splenome... ORPHA:50918
Familial Mediterranean Fever
Peritonitis, Leukocytosis, Hepatomegaly, Splenomegaly, Neutrophilia OMIM:249100
Lymphatic Malformation 6
Intestinal lymphangiectasia, Ascites, Splenomegaly OMIM:616843
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Ascites, Splenomegaly OMIM:269860
22Q11.2 Deletion Syndrome
Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymus, Retinal arteriolar tortuosity, Optic ... ORPHA:567
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Splenomegaly ORPHA:565612
Behçet Disease
Retrobulbar optic neuritis, Optic neuritis, Pancreatitis, Splenomegaly, Retinopathy, Lymphadenopathy ORPHA:117
Familial Mediterranean Fever
Peritonitis, Ascites, Pancreatitis, Splenomegaly, Lymphadenopathy ORPHA:342
Niemann-Pick Disease Type C
Bone-marrow foam cells, Fetal ascites, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Hepatosplen... ORPHA:646
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro... OMIM:249000
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Enlarged kidney, Polycythemia, Visceromegaly, Hepatomegaly, Ca... ORPHA:116
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Leukocytosis, Lymphadenopathy, Splenomegaly ORPHA:32960
Zimmermann-Laband Syndrome 1
Hepatomegaly, Splenomegaly OMIM:135500
Simpson-Golabi-Behmel Syndrome
Polysplenia, Hepatoblastoma, Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia ORPHA:373
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly OMIM:617088
Aspartylglucosaminuria
Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly ORPHA:93
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Splenomegaly ORPHA:163746
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Lymphadenopathy OMIM:256040
African Trypanosomiasis
Papilledema, Optic neuritis, Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly, Lymphadeno... ORPHA:3385
Simpson-Golabi-Behmel Syndrome, Type 1
Two carpal ossification centers present at birth, Enlarged kidney, Polysplenia, Hepatomegaly, Spl... OMIM:312870
Plague
Lymphadenitis, Enlarged mesenteric lymph node, Splenomegaly, Hepatomegaly ORPHA:707
Okamoto Syndrome
Splenomegaly ORPHA:2729
Tropical Endomyocardial Fibrosis
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Eosinophilia ORPHA:75565
Alström Syndrome
Cirrhosis, Hepatic steatosis, Retinal pigment epithelial atrophy, Retinal dystrophy, Cone/cone-ro... ORPHA:64
Choreoacanthocytosis
Hepatomegaly, Splenomegaly, Abnormal erythrocyte enzyme level, Acanthocytosis ORPHA:2388
Kleefstra Syndrome 2
Growth delay, Thick eyebrow OMIM:617768
Kleefstra Syndrome Due To A Point Mutation
Abnormal shape of the palpebral fissure, Short stature ORPHA:261652

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.

There is no histopathology data for Kmt2c