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Gene: Cdca7l MGI:2384982

Gene Summary

Name:

cell division cycle associated 7 like

Synonyms:

JPO2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal lymph node morphology	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased prepulse inhibition	Cdca7l^em1(IMPC)Mbp	HOM	Early adult	6.68×10^-05
abnormal skin morphology	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating cholesterol level	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	6.10×10^-07
small kidney	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Cdca7l^em1(IMPC)Mbp	HOM	Late 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

42 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Cdca7l 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.

Human diseases associated with Cdca7l (0 diseases)
Human diseases predicted to be associated with Cdca7l (532 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdca7l by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Glycogen Storage Disease Vi	Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertriglyceridemia, H...	OMIM:232700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg...	OMIM:616828
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice	ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hypercholesterolemia, Hypertri...	OMIM:612526
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Kerion Celsi	Lymphadenopathy	ORPHA:499
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop...	OMIM:603552
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur...	OMIM:620010
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, Decreased circu...	OMIM:616829
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos...	OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr...	ORPHA:543
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem...	OMIM:607616
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc...	OMIM:620282
Galactokinase Deficiency	Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in plasma, Hepatomegaly, ...	ORPHA:79237
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi...	OMIM:214900
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,...	OMIM:209950
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubine...	ORPHA:247598
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced ...	OMIM:210250
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of the lymphatic system, Biliary t...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen...	OMIM:613313
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hematuria, Pro...	OMIM:614034
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Elevated circulating carcinoembryonic antigen concentration	ORPHA:100083
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia	ORPHA:664
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Cog4-Cdg	Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Portal hypertension, Sclerosing cholang...	OMIM:619662
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Neutrophilia, Elevat...	ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Anemi...	ORPHA:457077
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, ...	ORPHA:507
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca...	OMIM:613490
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Autoimmun...	OMIM:603909
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:858
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Inguinal lymphadenopathy, Cervical lymphad...	OMIM:620514
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cholestasis, Renal tubular acidosis, Splenomegaly, Elevated ci...	ORPHA:264580
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Enuresis, Decreased HDL cholesterol concentration, Hyperlipide...	ORPHA:247585
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Renal tubular acidosis, Splenomegaly, Elevated circulating creatine kinase conc...	ORPHA:79240
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Pure red cell...	OMIM:613179
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:616730
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy, Elevated circulating C-r...	OMIM:607115
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c...	OMIM:620454
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Hepatomegaly, Monocytosis, Lymphadenop...	OMIM:619644
Lysinuric Protein Intolerance	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, C...	ORPHA:470
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Systemic-Onset Juvenile Idiopathic Arthritis	Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hypocholesterolemia, Splenomegaly, Hepatomegaly, ...	OMIM:607765
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta...	ORPHA:824
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate...	OMIM:615234
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti...	ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ...	OMIM:602347
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Redu...	OMIM:266200
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Elevated...	ORPHA:85450
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr...	OMIM:620632
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Immunodeficiency 47	Accessory spleen, Hepatic bridging fibrosis, Hepatic fibrosis, Normocytic anemia, Cholestasis, Ex...	OMIM:300972
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce...	ORPHA:186
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula...	OMIM:194380
Castleman Disease	Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Abdominal mass, Ane...	ORPHA:160
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice	OMIM:235555
Laron Syndrome	Hypoplasia of penis, Hypercholesterolemia	ORPHA:633
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hypernatriuria, Abnormal urine potassium concentration, Ascites, Xanthelasma, H...	ORPHA:275761
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymph...	ORPHA:83469
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc...	OMIM:603553
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S...	OMIM:612714
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100026
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating amyloid A concentrat...	OMIM:619750
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc...	ORPHA:848
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy...	ORPHA:412
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:618348
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc...	ORPHA:540
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ...	OMIM:613027
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Increased circulating cortisol level, Neoplasm of the thymus, Hypercalce...	ORPHA:97289
Congenital Generalized Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased...	ORPHA:528
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomeg...	OMIM:185000
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells	ORPHA:75233
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Tangier Disease	Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Left ...	OMIM:205400
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr...	OMIM:226990
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hyponatre...	ORPHA:549
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactiv...	ORPHA:1451
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc...	ORPHA:64753
Scrub Typhus	Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele...	OMIM:618048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu...	OMIM:304790
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,...	OMIM:263200
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,...	OMIM:613812
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Xanthelasma, Stage 5 chronic kidney dise...	ORPHA:79259
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia, Hepat...	OMIM:617591
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Vesicoureteral reflux, Splenomegaly, Leukocytosis, ...	OMIM:615895
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane...	OMIM:224120
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Smith-Magenis Syndrome	Abnormality of the ureter, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly...	ORPHA:91138
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Increased circulating ferri...	ORPHA:77259
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo...	ORPHA:90041
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated urine mevalonic acid level, ...	OMIM:610377
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru...	ORPHA:294
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Urinary retention,...	ORPHA:79124
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Acute Monoblastic/Monocytic Leukemia	Oliguria, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Hypocomplementemic Urticarial Vasculitis	Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly	ORPHA:36412
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Hypercholesterolemia	ORPHA:401923
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid...	OMIM:232220
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Hemochromatosis, Type 1	Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ...	OMIM:235200
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Hyperammonemia, Hepatome...	OMIM:618641
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly, Hypoplasia of penis	ORPHA:99812
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Hepatic steatosis, Splenomegaly, Portal hyperte...	ORPHA:567983
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ly...	ORPHA:29073
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis	ORPHA:90065
Kaposiform Lymphangiomatosis	Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnorma...	ORPHA:464329
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f...	OMIM:251880
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Autoimmune Hepatitis	Viral hepatitis, Increased total bilirubin, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrho...	ORPHA:2137
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat...	OMIM:617099
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Mixed Connective Tissue Disease	Nephropathy, Hemolytic anemia, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastin...	ORPHA:809
Pediatric Systemic Lupus Erythematosus	Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Dark urine, Renal...	ORPHA:93552
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:520
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadenopathy, Tubulointerstitial ...	ORPHA:139402
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Chole...	OMIM:118450
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr...	OMIM:151660
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Anemia, Hypophosphatemia, Hypercalciuria, Polyuri...	OMIM:239200
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec...	ORPHA:100093
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Hypophosph...	OMIM:276700
Bardet-Biedl Syndrome 20	Proteinuria, Micropenis, Pancreatitis, Hypercholesterolemia	OMIM:619471
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Acute Generalized Exanthematous Pustulosis	Cholestasis, Renal insufficiency, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr...	ORPHA:293173
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar...	ORPHA:635
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Xanthelasma, Splenomegaly, Prolonged neona...	ORPHA:30391
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Hypertriglyceridemia, Micropenis, Histioc...	ORPHA:168569
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Gaucher Disease, Type I	Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:230800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Nephrotic syndrome, Hepatitis, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decre...	ORPHA:37042
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Elev...	ORPHA:449395
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,...	ORPHA:50918
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Lymphadenopathy, Chronic hepatitis, Acu...	ORPHA:39812
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Waldenström Macroglobulinemia	Normocytic anemia, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Ab...	ORPHA:33226
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Anemia, Thrombocytosis, Elevated circulating C-r...	OMIM:615934
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:602782
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Abnor...	ORPHA:158048
Prader-Willi Syndrome	Micropenis, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:176270
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis	OMIM:142680
Q Fever	Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, Hematuria, ...	ORPHA:781
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem...	ORPHA:90674
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Splenomeg...	OMIM:617913
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy...	OMIM:616084
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomeg...	OMIM:615688
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Oculocerebrorenal Syndrome Of Lowe	Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Hyperaldost...	ORPHA:534
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocyt...	OMIM:300755
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Lymphadenopathy, Thrombocytosis, Hepatomegaly	ORPHA:2905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Splenomegaly, Autoimmune hemolytic an...	OMIM:620565
Gray Platelet Syndrome	Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Hypocalcemia, Splenomegaly, Lymphadenopathy, Pulmonary ly...	ORPHA:2136
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Ascites, Leukocytosis, Splenomegaly, Proteinuria, Peritonitis, Pan...	ORPHA:342
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or pr...	ORPHA:83471
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Hyperbilirubinemia, Dark urine, Congenital hepatic fibrosis, Cirrhosis, Hepatomegaly...	OMIM:619534
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Increased circulating ferritin concentration, Or...	OMIM:222700
Farber Disease	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch...	ORPHA:333
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce...	OMIM:610717
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating cortisol level	ORPHA:97287
Carney Triad	Ascites, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Lymphangioleiomyomatosis	Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sys...	ORPHA:538
Immunodeficiency 31C	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Impaired lymphocyte tran...	OMIM:614162
Familial Mediterranean Fever	Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Hepatomegaly, Peritonitis, Elevated c...	OMIM:249100
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Lymphadenopathy, Neutropenia, Autoim...	OMIM:607944
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Follicular hyperplasia, Hematuria, Proteinuria, ...	ORPHA:556
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Calc...	OMIM:613471
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration...	ORPHA:77293
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin...	OMIM:263700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Peritonitis, Lymphadenopathy, Elevated circulating C-reactive protein...	ORPHA:32960
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H...	ORPHA:565612
Brucellosis	Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, Leukocytosis, Thrombocytosis, ...	ORPHA:1304
Ileal Neuroendocrine Tumor	Hydronephrosis, Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage...	OMIM:309000
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive...	ORPHA:331235
Immunodeficiency 87 And Autoimmunity	Cervical lymphadenopathy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Ascites, Hepatic ste...	OMIM:619573
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hepatic stea...	OMIM:615846
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Renal insufficiency, Eosinophilia, Lymphadenopathy, Cholangitis, Re...	ORPHA:449432
Sarcoidosis	Nephrocalcinosis, Abnormal lymph node morphology, Hemolytic anemia, Leukopenia, Renal insufficien...	ORPHA:797
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T ce...	OMIM:619381
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leuk...	ORPHA:3260
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Peritonitis, Eosinophil...	ORPHA:228123
Lipodystrophy, Familial Partial, Type 7	Recurrent pancreatitis, Hypercholesterolemia, Polyuria, Hypertriglyceridemia	OMIM:606721
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly	ORPHA:667
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Crimean-Congo Hemorrhagic Fever	Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Elevated circulatin...	ORPHA:99827
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic...	ORPHA:536
Steinert Myotonic Dystrophy	Cholelithiasis, Hypercholesterolemia	ORPHA:273
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Hypertriglyceridemia, Cardiomegaly, Hepatomegaly, Lymphadenopath...	OMIM:256040
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Renal in...	ORPHA:289390
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Hypercalciuria, Generalized lymphadenopathy, Hepatomegaly, Mediastina...	OMIM:181000
Leptospirosis	Acute kidney injury, Hepatitis, Cellular urinary casts, Lymphadenopathy, Thrombocytopenia, Hepato...	ORPHA:509
Multiple Endocrine Neoplasia Type 2	Elevated urinary norepinephrine level, Cervical lymphadenopathy, Elevated urinary vanillylmandeli...	ORPHA:653
Kawasaki Disease	Hypoalbuminemia, Sterile pyuria, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis...	ORPHA:2331
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Primary hypercortisolism, Chronic noninfectious lymphadenopathy	ORPHA:100079
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis...	ORPHA:391665
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Splenomegaly, Lymphadenopa...	ORPHA:90340
Behçet Disease	Splenomegaly, Pancreatitis, Renal insufficiency, Lymphadenopathy	ORPHA:117
Igg4-Related Ophthalmic Disease	Eosinophilia, Pancreatitis, Lymphadenopathy, Elevated circulating C-reactive protein concentratio...	ORPHA:449563
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis	ORPHA:79078
African Trypanosomiasis	Hepatosplenomegaly, Renal insufficiency, Abnormality of circulating cortisol level, Splenomegaly,...	ORPHA:3385
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625

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 Cdca7l

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdca7l.

No publications found that use IMPC mice or data for Cdca7l.

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MGI Allele	Allele Type	Produced
Cdca7l^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cdca7l^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cdca7l^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue
Cdca7l^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cdca7l^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cdca7l MGI:2384982

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Cdca7l mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data