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Gene: Ccdc110 MGI:2685018

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Gene Summary

Name:
coiled-coil domain containing 110
Synonyms:
LOC212392

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
enlarged spleen Ccdc110em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Ccdc110em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Ccdc110em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Ccdc110em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Ccdc110em1(IMPC)Ccpcz HOM Early adult 0.00
preweaning lethality, incomplete penetrance Ccdc110em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Human diseases caused by Ccdc110 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 Ccdc110 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy... OMIM:602390
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... OMIM:235200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hepatic fibrosis, Hypogonadism,... OMIM:613313
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:269920
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis OMIM:620010
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... OMIM:212140
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... ORPHA:85212
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi... OMIM:606003
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Meacham Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... ORPHA:3097
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... ORPHA:398124
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Mogs-Cdg
Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... ORPHA:79330
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly ORPHA:42
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly OMIM:268800
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As... OMIM:616897
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... ORPHA:77259
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Neonatal death, A... OMIM:608013
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic ... ORPHA:464329
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules OMIM:139090
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... OMIM:612541
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca... OMIM:608836
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Fucosidosis
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly OMIM:230000
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis OMIM:249100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
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
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal aortic val... ORPHA:581
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased fertility in females, Spleno... OMIM:269700
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Cirrhosis, Hepatic... ORPHA:14
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp... ORPHA:116
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Histiocytoid Cardiomyopathy
Hepatomegaly, Polycystic ovaries, Ventricular septal defect, Cardiomegaly ORPHA:137675
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Irregular m... OMIM:256040
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... ORPHA:3472
Williams Syndrome
Abnormal endocardium morphology, Hypoplasia of penis, Overriding aorta, Bicuspid aortic valve, Ve... ORPHA:904
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... 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 Ccdc110

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 Ccdc110.

No publications found that use IMPC mice or data for Ccdc110.

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MGI Allele Allele Type Produced
Ccdc110em1(IMPC)Ccpcz Inter-exon deletion Mice
Ccdc110tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccdc110tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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