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Gene: Ccdc134 MGI:1923707

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Gene Summary

Name:
coiled-coil domain containing 134
Synonyms:
2310042L06Rik

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
increased grip strength Ccdc134tm1a(KOMP)Wtsi HET Early adult 3.25×10-06
preweaning lethality, incomplete penetrance Ccdc134tm1a(KOMP)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Legacy Phenotype Associated Images
Ccdc134tm1a(KOMP)Wtsi
HET, Male, WTSI
Ccdc134tm1a(KOMP)Wtsi
HET, Male, WTSI
Ccdc134tm1a(KOMP)Wtsi
HET, Male, WTSI
Ccdc134tm1a(KOMP)Wtsi
HET, Female, WTSI
Ccdc134tm1a(KOMP)Wtsi
HET, Female, WTSI

View all 111 images

Ccdc134tm1a(KOMP)Wtsi
HOM, Unsexed, WTSI
Ccdc134tm1a(KOMP)Wtsi
HOM, Unsexed, WTSI
Ccdc134tm1a(KOMP)Wtsi
partial embryonic lethality, abnormal tail development, hemorrhage, embryonic growth retardation, fetal edema, HOM, Female, WTSI
Ccdc134tm1a(KOMP)Wtsi
HOM, Unsexed, WTSI
Ccdc134tm1a(KOMP)Wtsi
HOM, Unsexed, WTSI

View all 18 images

Ccdc134tm1a(KOMP)Wtsi
WT, Female, WTSI
Ccdc134tm1a(KOMP)Wtsi
WT, Female, WTSI
Ccdc134tm1a(KOMP)Wtsi
abnormal sternum morphology, WT, Female, WTSI
Ccdc134tm1a(KOMP)Wtsi
WT, Female, WTSI

Human diseases caused by Ccdc134 mutations

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

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

The table below shows human diseases associated to Ccdc134 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteogenesis Imperfecta, Type Xxii
Intrauterine growth retardation OMIM:619795

The table below shows human diseases predicted to be associated to Ccdc134 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebral Cavernous Malformations
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation OMIM:116860
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Abnormal heart morphology, Abnormal placenta mor... ORPHA:439167
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Delayed onset bleeding, Ecchymosis, Myeloid leukemia, Joint hemorrhage, A... ORPHA:331
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abno... ORPHA:85212
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Premature birth, Epist... ORPHA:465
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... ORPHA:774
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... ORPHA:3226
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Premature birth, Cardiomegaly, Thrombocytopenia, Jau... ORPHA:858
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta ORPHA:73272
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk... ORPHA:99828
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi... ORPHA:327
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Propionic Acidemia
Hepatomegaly, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, Neutropenia,... OMIM:606054
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ... ORPHA:2133
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... ORPHA:49566
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Ethanolaminosis
Cardiomegaly OMIM:227150
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Abnormal ery... ORPHA:766
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... OMIM:613313
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia OMIM:182410
Pseudo-Torch Syndrome 3
Premature birth, Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Hypertension, Congenital thromb... OMIM:618886
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... ORPHA:97339
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... ORPHA:615
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... OMIM:185070
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Thrombocytosis, Increased mean pla... OMIM:222470
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ... OMIM:620300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:231393
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... OMIM:278000
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia,... ORPHA:2123
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged proth... OMIM:277450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h... ORPHA:254534
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Pancreatitis, Throm... OMIM:251000
Transaldolase Deficiency
Thrombocytopenia, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hepatosplenomegaly,... ORPHA:101028
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Prolonged QT interval, Aplastic a... ORPHA:398124
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Pate... OMIM:606003
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial ef... ORPHA:464329
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... ORPHA:163596
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Hypophosphatasia, Infantile
Polyhydramnios, Low alkaline phosphatase, Intracranial hemorrhage, Stillbirth, Anemia OMIM:241500
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... OMIM:175050
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Hepatoportal Sclerosis
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:64743
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated l... OMIM:269920
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Mirage Syndrome
Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, Anemia, Intraute... OMIM:617053
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... OMIM:603903
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mac... ORPHA:3202
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia OMIM:243500
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud phenomenon, Leuko... ORPHA:3260
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Aspergillosis
Eosinophilia, Hepatitis, Intracranial hemorrhage, Stroke, Neutropenia ORPHA:1163
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... ORPHA:99827
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... ORPHA:824
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Dextrocardia, Premature delivery because of cervical i... ORPHA:1662
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... ORPHA:324636
Neu-Laxova Syndrome 1
Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Fetal akinesia... OMIM:256520
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Reduced number of i... ORPHA:79284
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Premature rupture of membranes, Neonatal death, Atrial ... OMIM:311900
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Tempi Syndrome
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia ORPHA:284227
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto... OMIM:612840
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Cirrhotic Cardiomyopathy
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Elevated jugular venous pressure, Left at... ORPHA:57777
Congenital Enterovirus Infection
Abnormal bleeding, Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Pol... ORPHA:292
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... OMIM:235200
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Mosaic Trisomy 16
Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he... ORPHA:1708
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Caesarian section, Epistaxis ORPHA:403
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Decreased fetal movement, Spina bifida occulta, Subdural hemorrhage, Polyhydramnios OMIM:618291
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops... OMIM:256550
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Int... ORPHA:394
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk... ORPHA:340
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... ORPHA:98870
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal de... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterin... OMIM:618835
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:608013
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation OMIM:309400
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... ORPHA:555874
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Left atrial enlargement, Elevated circula... OMIM:300280
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Abnormal intrahepa... ORPHA:363618
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Heart ... ORPHA:163979
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... OMIM:614921
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Increased circulating lactate dehydrogenase concentration, Reticul... ORPHA:71275
Greenberg Dysplasia
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... OMIM:215140
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abnormal lactate dehydrogenase level, ... ORPHA:42
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Polyhydramnios, Atria... ORPHA:363705
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation, Anemia OMIM:618838
Lethal Congenital Contracture Syndrome 5
Decreased fetal movement, Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios OMIM:615368
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, La... OMIM:249000
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left v... OMIM:617713
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... OMIM:243700
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... ORPHA:99931
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Premature birth ORPHA:447788
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri... ORPHA:822
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, R... OMIM:201475
Beckwith-Wiedemann Syndrome
Hepatomegaly, Premature birth, Polyhydramnios, Cardiomegaly, Large placenta, Splenomegaly, Abnorm... ORPHA:116
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation ORPHA:254528
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Decreased fetal movement, Fet... ORPHA:86309
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Bradycardia, Intrauterine growth retardation, Hypertrophic ca... OMIM:614702
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jug... ORPHA:1677
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Kagami-Ogata Syndrome
Hepatoblastoma, Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Fetal intraventricular hemorrhage, Premature birth, Oligohydramnios OMIM:618480
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive hea... ORPHA:465508
Acute Liver Failure
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, H... ORPHA:90062
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Carotid artery stenosis, Splenomegaly, Thrombocytopenia, Gian... OMIM:210250
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen... OMIM:611881
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cardiomegaly, Elevated circu... ORPHA:308552
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhag... ORPHA:90324
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Kyphoscoliotic Ehlers-Danlos Syndrome
Decreased fetal movement, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemo... ORPHA:536545
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Myocardial infarction, Cardiomegaly, Cong... OMIM:614473
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien... ORPHA:2929
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou... ORPHA:109
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Premature birth, Polyhydramnios, L... ORPHA:96334
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Decreased fetal movement, Subdural hemorrhage, Cerebral hemorrhage, Breech presentation OMIM:620278
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Medulloblastoma
Elevated hepatic transaminase, Cerebellar hemorrhage ORPHA:616
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Oligohydramnios,... ORPHA:96191
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Myocardial infarction, Cardiomegaly, Carotid artery calcification,... OMIM:208000
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... OMIM:602782
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Single umbilical artery... OMIM:616897
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Hepato... OMIM:268800
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Intrauterine growth retardation, Prolonged prothrombin time, Neonata... OMIM:619055
Refsum Disease, Classic
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa... OMIM:266500
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... OMIM:619991
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, T... ORPHA:365
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Heart block, Hepatic calcification, C... ORPHA:228308
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Reticulocytosis, Cardiomegaly, Ac... ORPHA:14
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Fetal akinesia sequence, Low alkaline phosphatase, Elevated circulati... OMIM:618143
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Mitral valve prolapse... ORPHA:666
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Mogs-Cdg
Hepatomegaly, Polyhydramnios, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventri... ORPHA:79330
Arachnoid Cyst
Encephalocele, Subarachnoid hemorrhage ORPHA:2356
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... OMIM:617022
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly OMIM:613320
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... ORPHA:1517
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb... ORPHA:2177
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Feta... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Feta... ORPHA:363958
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Polyhydramnios OMIM:613603
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly OMIM:619259
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, ... OMIM:230000
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Cardiomegaly, Myelopathy... OMIM:252500
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Intrauterine ... ORPHA:158687
Amyloidosis, Hereditary, Transthyretin-Related
Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio... OMIM:105210
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Polyhydramnios, Cardiomegaly, Fetal distress, Abnormal re... ORPHA:51608
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage OMIM:619714
Congenital Tracheomalacia
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... ORPHA:95430
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Atrioventricular block,... ORPHA:581
Trichorhinophalangeal Syndrome, Type Ii
Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arteriovenous malformation, M... OMIM:150230
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia ORPHA:420741
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thrombocytop... ORPHA:51
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... OMIM:175780
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Branchial fistula, Polyhydramnios, Intrauterine growth retardation OMIM:613406
Meningioma
Syncope, Cerebral hemorrhage ORPHA:2495
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... OMIM:245600
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Placental mesenchymal dysplas... OMIM:130650
Neurodegeneration And Seizures Due To Copper Transport Defect
Thickened nuchal skin fold, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Intrauterine growth retardation, A... ORPHA:97297
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Microcytic anemia, Congestive heart fa... OMIM:256040
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Pericardial effusion, Abnormal live... ORPHA:79318
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Cardiomegaly ORPHA:2463
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Osteogenesis Imperfecta, Type Xxii
Intrauterine growth retardation OMIM:619795

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 Ccdc134

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 Ccdc134.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ccdc134tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ccdc134tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ccdc134tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ccdc134tm1a(KOMP)Wtsi PMC5827107

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
Ccdc134tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ccdc134tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ccdc134tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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