banner
Genes Phenotypes Help, News, Blog

Gene: Lrrtm2 MGI:2389174

Log in to follow

Gene Summary

Name:
leucine rich repeat transmembrane neuronal 2
Synonyms:
C630011A14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Lrrtm2em1(IMPC)Mbp HOM   Early adult 5.82×10-05
abnormal lung morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
enlarged heart Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
urinary bladder obstruction Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal urinary bladder morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

112 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

33 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

56 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Human diseases caused by Lrrtm2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Lrrtm2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Kerion Celsi
Lymphadenopathy ORPHA:499
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis, Green urine OMIM:614156
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Schizophrenia 15
Hyperactivity OMIM:613950
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Tyrosinemia Type 1
Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Kaposiform Lymphangiomatosis
Pancreatic cysts, Thrombocytopenia, Abnormal lung morphology, Splenomegaly, Abnormality of the ly... ORPHA:464329
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Hepatomegaly, Proteinuria, Recurrent bronchopulmonary infection... OMIM:617303
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Pulmonary cyst, Enlarged kidney OMIM:618272
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Hepatomegaly ORPHA:139406
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis OMIM:300752
Meckel Syndrome, Type 8
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... ORPHA:97290
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Meckel Syndrome, Type 6
Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplas... OMIM:612284
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... OMIM:200995
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena... ORPHA:1335
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
Meacham Syndrome
Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... OMIM:608978
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Hepatomegaly ORPHA:417
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome... OMIM:276700
Cardiac-Urogenital Syndrome
Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc... OMIM:613490
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia ORPHA:79278
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infection, Mediastinal lymphadenopathy,... ORPHA:79128
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Pulmonary hypoplasia, Atriov... OMIM:314390
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosple... OMIM:209950
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinuria, Anemia OMIM:238700
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... OMIM:232800
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Pulmonary hyp... OMIM:608022
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglobulin deposits, Sterile pyur... ORPHA:449395
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... ORPHA:858
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... OMIM:239500
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites OMIM:269920
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... ORPHA:319487
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Sandhoff Disease
Splenomegaly, Recurrent respiratory infections, Hepatomegaly ORPHA:796
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Renal tubular dysfunction, Atrial septal defect, Cholelithiasis, D... OMIM:614886
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... OMIM:613313
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... OMIM:267010
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hepatic failure, Cholelithiasis OMIM:177000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... OMIM:618495
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Mirizzi Syndrome
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel... ORPHA:521219
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper res... OMIM:252920
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Cystic Echinococcosis
Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ... ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly ORPHA:3166
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer... OMIM:232200
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol... ORPHA:99931
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi... OMIM:235200
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Lymphadenopathy ORPHA:50251
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,... OMIM:614034
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Thrombocytopen... ORPHA:505248
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia ORPHA:309108
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... OMIM:616589
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... ORPHA:507
Gaucher Disease Type 2
Splenomegaly, Dysphagia, Hepatomegaly ORPHA:77260
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... OMIM:130650
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancreas, Abnormality ... ORPHA:54251
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Cryptorchidism, Abnormal heart morphology, Abnormality of the urinary system, Aplas... ORPHA:96092
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the g... ORPHA:96097
H Syndrome
Abnormality of the kidney, Microcytic anemia, Recurrent pharyngitis, Bronchiectasis, Hepatospleno... ORPHA:168569
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis OMIM:240300
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... ORPHA:79328
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Morm Syndrome
Hyperactivity, Micropenis, Abnormality of the kidney, Aggressive behavior ORPHA:75858
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept... ORPHA:2255
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Nephroblastoma
Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy ORPHA:654
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome... ORPHA:824
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... OMIM:618955
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal p... OMIM:612387
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Recurrent pharyngitis, Jaundice, Splenomegal... ORPHA:108
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms, Hepatomegaly OMIM:615637
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis OMIM:602390
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... ORPHA:84081
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis ORPHA:79095
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Trisomy 8P
Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis, Recurrent upper respirat... ORPHA:264450
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Recurrent respiratory infections, Cryptorchidism, Recurrent upper respiratory tract infections, C... OMIM:300534
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal... OMIM:600001
Rhabdoid Tumor
Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia ORPHA:69077
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections, Recurrent tonsillitis ORPHA:171876
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... OMIM:618935
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Mulibrey Nanism
Hepatomegaly, Nephroblastoma, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurr... OMIM:253250
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab... ORPHA:85450
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... OMIM:619644
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thr... ORPHA:79312
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Hepatomegaly, Recurrent urinary tract infections, Ventricular s... OMIM:620210
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... OMIM:615630
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... ORPHA:77259
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno... ORPHA:77293
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Atria... ORPHA:464738
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Hepa... OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Stage 5 ... ORPHA:79259
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th... OMIM:263700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... OMIM:201475
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Microcytic anemia, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cho... ORPHA:774
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymph... ORPHA:98850
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Recurrent pharyngitis... ORPHA:549
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... OMIM:615710
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacc... OMIM:252500
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, As... ORPHA:834
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Cryptorchidism, A... ORPHA:116
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver ORPHA:234
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno... OMIM:216360
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... OMIM:619802
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... ORPHA:39041
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cirr... OMIM:613489
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Mitral valve calcification, Abnormality of the spleen, Thrombocytopenia, Splenomega... ORPHA:2072
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Pneumonia, Eosinophilia, Thrombocyt... OMIM:226990
Bohring-Opitz Syndrome
Recurrent respiratory infections, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morpholog... ORPHA:97297
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... ORPHA:829
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Ab... ORPHA:290
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytos... ORPHA:514
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux, Atrial septal defect, Hy... ORPHA:567
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder ORPHA:512
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Recurrent pancreatitis, Decreased liver fu... OMIM:618268
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Felty Syndrome
Recurrent respiratory infections, Hepatomegaly, Pericarditis, Recurrent urinary tract infections,... ORPHA:47612
Joubert Syndrome 33
Splenomegaly OMIM:617767
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... ORPHA:398124
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... OMIM:188400
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... ORPHA:228308
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... OMIM:613179
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Oligosacchariduria, Cardiomegaly ORPHA:3137
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Glomerulopathy, Abnormal heart valve morphology, Proteinuria, ... ORPHA:36412
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... OMIM:620296
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Hepatomegaly OMIM:252900
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... OMIM:607330
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... ORPHA:2869
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Ascites OMIM:614702
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... OMIM:606003
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... ORPHA:465508
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Perimembranous ventr... ORPHA:83617
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial septal defect,... OMIM:300712
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Right atrial enlargement, Anomalous pulmonary v... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Le... OMIM:617713
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ... OMIM:614576
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneum... ORPHA:781
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Pulmonary hyp... OMIM:616897
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Right atrial enlargement, Cirrhosi... ORPHA:57777
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Bile duct proliferation, Renal cyst OMIM:611134
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Endocrine-Cerebroosteodysplasia
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Anemia, Atrial septal... ORPHA:163979
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret... ORPHA:30
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... ORPHA:3097
Scrub Typhus
Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... ORPHA:2075
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Tetralogy of Fallot, Patent foram... OMIM:601005
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hep... OMIM:618278
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Medullary Thyroid Carcinoma
Dysphagia, Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly OMIM:301066
Wilson Disease
Hepatomegaly, Aggressive behavior, Splenomegaly, Thrombocytopenia, Jaundice, Hypersexuality, Hepa... ORPHA:905
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Hypospadi... OMIM:312870
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, A... ORPHA:520
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... OMIM:230800
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Pericarditis, Recurrent urinary tract infections, Dextrocard... ORPHA:3310
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Steinfeld Syndrome
Absent gallbladder, Unilateral renal dysplasia, Abnormal heart morphology OMIM:184705
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... OMIM:602782
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Recurrent respiratory infections, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Dysphagia OMIM:252930
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation OMIM:618541
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatos... ORPHA:1333
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Pulmonary fibrosi... OMIM:618394
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Elevated circulating alanine aminotransf... ORPHA:308552
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Splenomegaly, Myocardi... ORPHA:809
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Recurrent urinary tract infections, Abnormal repetitive mannerisms, Bruxism, Dysph... OMIM:615873
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... ORPHA:508
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... ORPHA:904
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Cryptorchidism, Abno... ORPHA:3376
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Micropenis, Tet... OMIM:617925
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Urinary incontinence, Cardiomegaly, Splenomegaly,... OMIM:232300
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... ORPHA:264580
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Trisomy 10P
Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology ORPHA:171929
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro... OMIM:208500
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c... OMIM:615895
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Ne... ORPHA:97289
Pediatric Systemic Lupus Erythematosus
Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia... ORPHA:93552
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... OMIM:170100
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Gaucher Disease Type 3
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnorma... ORPHA:77261
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronchiectasis, Chr... OMIM:616005
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas... OMIM:251290
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... OMIM:612541
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... ORPHA:1572
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pulmonary hypopla... OMIM:608013
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Leukocytosis, Acute leukemia, Lymphadenopathy ORPHA:99812
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren... OMIM:260920
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren... OMIM:617140
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena... ORPHA:1655
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Biliary atresia, Vesicoureteral reflux, Horseshoe kidn... OMIM:115470
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Hepatitis, Lymphadenopathy, Tubulointerstitial nephritis, Neph... ORPHA:139402
Lymphatic Filariasis
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym... ORPHA:2035
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... ORPHA:391428
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormal lung morphology, Abnormal atrial septum morphology, Prolonged neonatal j... ORPHA:909
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, ... ORPHA:3186
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Left vent... ORPHA:79330
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple... OMIM:603553
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Anorexia, Splen... ORPHA:33226
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Polydipsi... OMIM:239200
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Truncus Arteriosus
Atrial septal defect, Ventricular septal defect, Anomalous origin of one pulmonary artery from as... ORPHA:3384
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul... OMIM:619418
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... OMIM:610199
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... OMIM:300842
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... OMIM:230000
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... ORPHA:293173
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... ORPHA:29073
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... ORPHA:1329
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Pneumothorax, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Mucopolysa... ORPHA:584
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue histiocyto... OMIM:257220
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... OMIM:617022
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... OMIM:618329
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova... ORPHA:79240
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ... ORPHA:98813
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Thro... ORPHA:50918
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadeno... ORPHA:342
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Wilson Disease
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly... OMIM:277900
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Atrial septal defect, Renal insufficiency, Cholangit... OMIM:613610
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ... OMIM:607625
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Urinary incontinence, Pulmonary edema OMIM:105210
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Scheie Syndrome
Splenomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:93474
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re... OMIM:137920
Brucellosis
Liver abscess, Bronchitis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymp... ORPHA:1304
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Splenomegaly, Leukocytosi... OMIM:615688
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Renal cyst... OMIM:261515
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Carney Triad
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites, Anemia ORPHA:139411
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Abnormality... OMIM:222470
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hepatomegaly, Adenoiditis, Respiratory tract infection, Cardi... ORPHA:581
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node h... OMIM:300755
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Pneumothorax, Partial anomalous pulmonary ven... ORPHA:95430
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Unilateral renal agenesis, Bilateral renal dysplasi... ORPHA:500150
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Polysplenia, Attention deficit hyperactivity disorder, Dilatati... OMIM:614294
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Abnormal renal physiology, Micropenis, Urogenital sin... ORPHA:96176
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ... ORPHA:3427
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Ple... ORPHA:1677
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha... OMIM:181000
Microsporidiosis
Pneumonia, Bronchitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Decreased proportio... ORPHA:2552
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... OMIM:619525
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Dysphagia... OMIM:617913
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Dilated car... ORPHA:273
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem... ORPHA:538
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Port... OMIM:207800
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis ORPHA:39812
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity, Primum atrial septal defect OMIM:615272
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Pancreatic aplasia, Elevated circulating alanine aminotransferase concentrati... OMIM:618500
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... ORPHA:980
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... OMIM:249000
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Pulmonary ... ORPHA:137675
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Lysinuric Protein Intolerance
Hepatomegaly, Thrombocytopenia, Splenomegaly, Intraalveolar phospholipid accumulation, Stage 5 ch... OMIM:222700
Peters-Plus Syndrome
Ureteral duplication, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Cryptorchidis... OMIM:261540
Tuberous Sclerosis Complex
Hyperactivity, Renal insufficiency, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... ORPHA:805
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in... ORPHA:37042
Hennekam Syndrome
Lymphopenia, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphade... ORPHA:2136
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... ORPHA:333
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... OMIM:175200
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... ORPHA:83471
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... ORPHA:556
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:97287
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Atelectasis, Elevated circulating alanin... ORPHA:365
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... OMIM:269700
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop... ORPHA:565612
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P... OMIM:608594
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... OMIM:607944
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat... ORPHA:14
Poems Syndrome
Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly ORPHA:2905
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros... ORPHA:449432
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Abnormal intrahepatic bile duct morphology, ... ORPHA:363618
Cystinosis, Nephropathic
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysp... OMIM:219800
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... ORPHA:536
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect... ORPHA:99125
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement OMIM:620233
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Hydronephrosis, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis, Hypernatriur... ORPHA:90041
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Cong... ORPHA:436252
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenome... ORPHA:51
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... OMIM:245600
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Recurrent urinary tract infections, Portal hypertens... OMIM:613658
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... ORPHA:3260
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro... ORPHA:331235
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... OMIM:613471
Coccidioidomycosis
Renal insufficiency, Eosinophilia, Abnormality of the kidney, Abnormality of the spleen, Mediasti... ORPHA:228123
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Abnormality of th... ORPHA:280
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Anorexia, Hepatomegaly ORPHA:100075
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla... ORPHA:733
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... ORPHA:818
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy ORPHA:32960
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Proteinuria, Anorexia, Splenomegaly... ORPHA:99827
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Eosinophilia, Portal hypertension, Thrombocy... ORPHA:797
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenome... OMIM:256040
Behçet Disease
Glomerulopathy, Renal insufficiency, Anorexia, Splenomegaly, Lymphadenopathy, Pancreatitis ORPHA:117
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc... OMIM:615846
Cherubism
Submandibular lymph node enlargement OMIM:118400
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Hepatitis,... OMIM:619381
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glom... ORPHA:289390
Leptospirosis
Hepatomegaly, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Acute kidne... ORPHA:509
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Recurrent respiratory infections, Aplasia of the sweat glands, Hepatomegaly OMIM:612132
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Pneumothorax, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Blau Syndrome
Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, A... ORPHA:90340
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Renal insufficiency, Anorexia, Aggressive behavior, Jaundice, Neutr... ORPHA:99826
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica... ORPHA:51608
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100079
Neurofibroma
Neoplasm of the trachea, Neoplasia of the pleura, Abnormal biliary tract morphology, Enlargement ... ORPHA:252183
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Cervical lymphadenop... ORPHA:653
Kawasaki Disease
Proteinuria, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Sterile pyuria, Cholecy... ORPHA:2331
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Lymphadenopathy, ... ORPHA:449563
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... ORPHA:3472
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Tubulointerstitial nephritis, Thrombocytopenia, Lymphadenopathy ORPHA:79078
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Urinary incontinence, Aggressive behavior, Splenomegaly, Jaund... ORPHA:3385
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Anorexia, Neoplas... ORPHA:99889
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Plague
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node ORPHA:707
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... OMIM:182250

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 Lrrtm2

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 Lrrtm2.

No publications found that use IMPC mice or data for Lrrtm2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Lrrtm2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lrrtm2em1(IMPC)Mbp Intra-exon deletion Mice, Tissue
Lrrtm2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter