Gene Summary

Name:
baculoviral IAP repeat-containing 6
Synonyms:
apollon,  A430032G04Rik,  Bruce,  D630005A10Rik,  A430040A19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Birc6em1(IMPC)Ccpcz HET Early adult 0.00
no spontaneous movement Birc6em1(IMPC)Ccpcz HOM E18.5 0.00
preweaning lethality, complete penetrance Birc6em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal retina morphology Birc6em1(IMPC)Ccpcz HET Early adult 6.43×10-08
abnormal heart morphology Birc6em1(IMPC)Ccpcz HET Early adult 0.00
edema Birc6em1(IMPC)Ccpcz HOM E15.5 0.00
increased circulating creatine kinase level Birc6em1(IMPC)Ccpcz HET Early adult 5.84×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

MicroCT E18.5

Embryo reconstruction

2 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

Human diseases caused by Birc6 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 Birc6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lipedema
Edema OMIM:614103
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Ethanolaminosis
Cardiomegaly OMIM:227150
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Placental Insufficiency
Abnormal placenta morphology, Small placenta, Miscarriage, Proportionate short stature, Abnormal ... ORPHA:439167
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage... ORPHA:36382
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Acute Peripheral Arterial Occlusion
Myocardial infarction, Stroke, Supraventricular tachycardia, Abnormal capillary physiology, Leuko... ORPHA:90064
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Splenic rupture, Joint hemorrhage, Intracrani... ORPHA:98878
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Epidural hemorrhage, Abnormal bleeding, Gingi... ORPHA:169805
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Prolonged bleeding after dental extraction, Post-partum hemorrhage, Oral c... ORPHA:331
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Small placenta, Severe postnatal growth retardation, Severe intraut... ORPHA:73272
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Th... ORPHA:60041
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Death in childhood, Gingival bleeding, Death... OMIM:202400
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Gingival bleeding, Epistaxis, Cerebral hemorrhage ORPHA:98880
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Death in childhood, Death in adolescence, Death in infancy, Neonatal ... OMIM:619055
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Megaloblastic anemia, Stroke, Cardiac arrest, Short stature, Paroxysmal... ORPHA:49827
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Growth delay, Intrauterine growth retardation, Intraventricular hemorrhage,... ORPHA:79284
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Postnatal growth retardation, Oligohydramnios ORPHA:397590
Acute Myelomonocytic Leukemia
Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Ischemic stroke, Moyamoya phenomenon, Coronary artery atherosclerosis, Hypertens... ORPHA:280679
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Cerebral hemorrhage, Lymphopenia OMIM:182410
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Glanzmann Thrombasthenia 1
Purpura, Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Abnormal platelet... OMIM:273800
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d... OMIM:619170
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Hypotension, Thrombocytopenia, Leukope... ORPHA:99828
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Abnormal bleeding, Acute myeloid leukemia, Normochro... ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Growth delay, Anisocyto... OMIM:615631
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Polyhydramnios, Anemia, Pericarditis, Splenomegaly, Ab... ORPHA:163596
Pseudo-Torch Syndrome 3
Anemia, Hypertension, Leukocytosis, Death in infancy, Premature birth, Cerebral hemorrhage, Conge... OMIM:618886
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Erythrocytosis, Familial, 2
Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Increased ci... OMIM:263400
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Polyhydramnios, Abnormal biliary tract morphology, Oligohyd... ORPHA:3032
Evans Syndrome
Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Epi... ORPHA:1959
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce... ORPHA:90065
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... ORPHA:31825
Wyburn-Mason Syndrome
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Cephalohematoma, Gastrointestinal hemorrhage, Melena, Abnormal bl... ORPHA:853
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Pancytopenia, Death in infancy, Neonatal death, Thrombocytopenia, Sp... ORPHA:85212
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Anemia, Epidural hemorrhage, Prolonged bleeding fol... ORPHA:169802
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Sideroblastic anemia, Pallor, Hypertrophic cardiomyopathy OMIM:613561
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Periventricular Nodular Heterotopia 1
Stroke, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Snakebite Envenomation
Myocardial infarction, Abnormal bleeding, Stroke, Gingival bleeding, Cerebral ischemia, Hypotensi... ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Intraventricular hemorrhage OMIM:616430
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Moyamoya phenomenon, Premature coronary artery atherosclerosis, Rig... OMIM:300845
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Persistent bleeding after trauma, Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum h... ORPHA:465
Primary Myelofibrosis
Purpura, Abnormal bleeding, Anemia, Thrombocytosis, Pancytopenia, Petechiae, Leukocytosis, Portal... ORPHA:824
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Melena, Increased mean corpuscular volume, Post-partum hemorrhage, Gingival bleeding, Poi... ORPHA:98870
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Ecchymosis, Cerebral hemorrhage,... OMIM:277450
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Pseudo-Torch Syndrome 2
Fetal distress, Bradycardia, Petechiae, Thrombocytopenia, Cerebral hemorrhage, Patent ductus arte... OMIM:617397
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Riddle Syndrome
Scaling skin, Conjunctival telangiectasia, Short stature, Intraventricular hemorrhage, Erythema, ... ORPHA:420741
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254534
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Death in infancy, Neonatal death, Cerebral hemorrhage, Dila... OMIM:620300
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Cardiomyopathy ORPHA:85447
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Aortic regurgitation,... ORPHA:99147
Beta-Thalassemia
Skin ulcer, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, Abnormal hemoglo... ORPHA:848
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Polyhydramnios OMIM:613603
Congenital Syphilis
Myocarditis, Palmoplantar scaling skin, Large placenta, Hydrops fetalis, Purpura, Anemia, Petechi... ORPHA:499009
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage OMIM:614483
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena... ORPHA:464321
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
White Sponge Nevus 2
Edema OMIM:615785
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage OMIM:616507
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Hellp Syndrome
Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Hypotension, Int... ORPHA:244242
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... OMIM:177850
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Leishmaniasis
Abnormal bleeding, Skin ulcer, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Lymphangiectasia, Intestinal
Edema, Stillbirth, Decreased circulating IgG level, Pedal edema OMIM:152800
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Decreased hemo... OMIM:266200
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Aortic aneurysm, Cardiomyopathy, Spina bifida, Pulmonic stenosis, F... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Aortic aneurysm, Cardiomyopathy, Spina bifida, Pulmonic stenosis, F... ORPHA:363958
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Growth delay, Splenomegaly, Decreased ... OMIM:615234
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Factor Vii Deficiency
Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su... OMIM:227500
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276556
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Menkes Disease
Death in childhood, Cutis laxa, Short stature, Intracranial hemorrhage, Intrauterine growth retar... OMIM:309400
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Increased nuchal translucency, ... OMIM:208150
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L... OMIM:610655
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion... OMIM:614702
Cyclic Vomiting Syndrome
Growth delay, Pallor, Cardiomyopathy OMIM:500007
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia, Pallor ORPHA:90037
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Restrictive Dermopathy
Scaling skin, Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Transposition... ORPHA:1662
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276575
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Hereditary Spherocytosis
Skin ulcer, Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentra... ORPHA:822
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly, Retinal degenerat... OMIM:266500
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... ORPHA:774
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Large placenta, Polyhydramnios, Redundant neck skin, Umbilical hern... ORPHA:254528
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Breech presentation, Death in infancy, Cerebral hemorrhage, Decreased fetal m... OMIM:620278
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Growth delay, Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Eryth... OMIM:600462
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor, He... OMIM:611590
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Familial Multiple Nevi Flammei
Skin ulcer, Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia... ORPHA:624
Myelofibrosis
Purpura, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extramedullary hema... OMIM:254450
Congenital Toxoplasmosis
Cardiomegaly, Abnormality of retinal pigmentation, Hepatomegaly ORPHA:858
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Pallor, Tachycardia ORPHA:324575
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... OMIM:300280
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Transposition of the great arte... OMIM:256520
Optic Atrophy 1
Pallor OMIM:165500
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab... ORPHA:35858
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... OMIM:300751
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Death in early adulthood ORPHA:100006
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Dominant Beta-Thalassemia
Delayed puberty, Skin ulcer, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin... ORPHA:231226
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Beta-Thalassemia Intermedia
Skin ulcer, Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Pulmonary... ORPHA:231222
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Hypophosphatasia, Infantile
Stillbirth, Polyhydramnios, Anemia, Disproportionate short-limb short stature, Death in infancy, ... OMIM:241500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Waldenström Macroglobulinemia
Congestive heart failure, Normocytic anemia, Purpura, Gastrointestinal hemorrhage, Vasculitis, St... ORPHA:33226
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Cerebral vasculitis, Intracranial hemorrhage ORPHA:140989
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Death in early adulthood ORPHA:100008
Beta-Thalassemia Major
Anisopoikilocytosis, Delayed puberty, Skin ulcer, Hypochromic microcytic anemia, Decreased mean c... ORPHA:231214
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Cerebral hemorrhage, Neutropenia OMIM:301081
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... ORPHA:85451
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Stormorken Syndrome
Abnormal bleeding, Anemia, Howell-Jolly bodies, Asplenia, Short stature, Stroke-like episode, Hyp... OMIM:185070
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Abnormal platelet morphology, Epistaxis, Hematochezia, Lympho... ORPHA:906
Tempi Syndrome
Facial erythema, Polycythemia, Intracranial hemorrhage, Increased hematocrit, Telangiectasia ORPHA:284227
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Splenomegaly, ... ORPHA:90033
Kyphoscoliotic Ehlers-Danlos Syndrome
Aortic aneurysm, Umbilical hernia, Short stature, Cerebral hemorrhage, Decreased fetal movement, ... ORPHA:536545
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pallor OMIM:613839
Neurocutaneous Melanocytosis
Death in infancy, Intracranial hemorrhage, Meningocele ORPHA:2481
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Retinal arterial tortuosity, Splenic cyst, Hydranencephaly, Pulmonary artery atr... OMIM:620371
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Aortic regurgitation, Pulmonic stenosis, Increased mean platelet ... OMIM:222470
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... ORPHA:86839
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Sepsis In Premature Infants
Purpura, Abnormal bleeding, Anemia, Bradycardia, Petechiae, Leukocytosis, Hypotension, Caesarian ... ORPHA:90051
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Splenomegaly, Arrhythmia, Pallor ORPHA:3386
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Pigmentary retinopathy OMIM:253250
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus OMIM:601612
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Tachycardia ORPHA:90036
Lymphatic Malformation 10
Lymphedema OMIM:619369
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Renal artery stenosis, Cerebral hemorrhage, Posi... OMIM:171300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Death in infancy, Arrhythmia, Dilated cardiomyopathy, Oligohy... OMIM:608836
Parkes Weber Syndrome
Scaling skin, Abnormal bleeding, Skin ulcer, Arteriovenous malformation, Spinal arteriovenous mal... ORPHA:90307
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Oral cavity bleeding, Menorrhagia, Joint hemorrhage, Ecchymosis, Epi... ORPHA:324636
Long-Olsen-Distelmaier Syndrome
Optic nerve hypoplasia, Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated card... OMIM:620609
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Retinal degeneration, R... ORPHA:391428
Lethal Congenital Contracture Syndrome 5
Polyhydramnios, Retinal hemorrhage, Death in infancy, Decreased fetal movement, Subdural hemorrhage OMIM:615368
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Coarctation of aorta, Premature birth, Patent ductus art... ORPHA:1708
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Pancytopenia, Cardiomyopathy, Short stature, Thrombocytopenia, Neu... OMIM:606054
Isovaleric Acidemia
Cerebellar hemorrhage, Thrombocytopenia, Leukopenia, Pancytopenia OMIM:243500
Mirage Syndrome
Anemia, Patent ductus arteriosus, Petechiae, Short stature, Hypoplastic spleen, Leukopenia, Throm... OMIM:617053
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Aregenerative Anemia
Abnormal bleeding, Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cell... ORPHA:101096
Familial Hyperaldosteronism Type I
Caesarian section, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:403
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Growth delay, Dysplastic erythropoesis, Hepatospl... ORPHA:300298
Rheumatic Fever
Myocarditis, Pericarditis, Epistaxis, Arrhythmia, Pallor, Erythema ORPHA:3099
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Cardiomegal... OMIM:235200
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Cold Agglutinin Disease
Pallor, Splenomegaly, Hemolytic anemia ORPHA:56425
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Subdural hemorrhage, Spina bifida occulta, Decreased fetal movement OMIM:618291
Joubert Syndrome 14
Encephalocele, Meningocele, Hypertension, Growth delay, Intracranial hemorrhage OMIM:614424
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... ORPHA:42
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cherry red spot of the macula, Cardiomegaly OMIM:256550
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... OMIM:201475
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemia, Anemic pallor, Growth delay, Hematochezia ORPHA:329971
Osteogenesis Imperfecta
Rhizomelia, Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Arterial dissection, Cut... ORPHA:666
Greenberg Dysplasia
Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Rhizomelia, Disproportionate short-l... OMIM:215140
Retinitis Pigmentosa 51
Pallor OMIM:613464
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Spina bifida occulta, M... OMIM:105650
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Hydranencephaly
Postnatal growth retardation, Abnormal internal carotid artery morphology, Dilatation of the vent... ORPHA:2177
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Short stature, Neutropenia OMIM:609053
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Menkes Disease
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Vascular ... ORPHA:565
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Elliptocytosis 1
Pallor, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Pulmonary arterial hypertension, Caesarian section, Epistaxis, Intracranial hemorrh... ORPHA:369929
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Neonatal death, Dehydration OMIM:602199
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Dravet Syndrome
Pallor ORPHA:33069
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormal spleen morphology, Abnormal lymphatic ve... ORPHA:464329
Restrictive Dermopathy 1
Scaling skin, Short umbilical cord, Stillbirth, Polyhydramnios, Patent ductus arteriosus, Prematu... OMIM:275210
Kagami-Ogata Syndrome
Postnatal growth retardation, Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Extracranial Carotid Artery Aneurysm
Arteritis, Arteriosclerosis, Vasculitis, Stroke, Hypertension, Cerebral ischemia, Total anomalous... ORPHA:494424
Aspergillosis
Eosinophilia, Stroke, Intracranial hemorrhage, Neutropenia ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... OMIM:617713
Vascular Hyalinosis
Vascular dilatation, Hematochezia, Subarachnoid hemorrhage OMIM:277175
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Familial Hyperaldosteronism Type Ii
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:404
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia OMIM:246400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Cardiac arrest, Anemia, Death in childhood OMIM:246450
Familial Hyperaldosteronism Type Iii
Hypertension, Prolonged QT interval, Epistaxis, Intracranial hemorrhage ORPHA:251274
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis by shear stress... OMIM:194380
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Congestive heart failure, Anemia, Supraventricular arrhythmia, Myeloprolifera... ORPHA:3260
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiom... ORPHA:99901
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Short stature, Fetal intraventricular hemorrhage, Premature birth,... OMIM:618480
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Refractory sideroblastic anemia, Anemia, Death in childhood, Pancytopenia, Retic... OMIM:557000
Tarp Syndrome
Neonatal death, Tetralogy of Fallot, Intrauterine growth retardation, Oligohydramnios, Subdural h... OMIM:311900
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Anemia, Cardiac arrest, Leukocytosis, Hypotension, Leukopenia, Pallor... ORPHA:20
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Anemia, Melena, Petechiae, Capillary leak, Hypertension, Leukocytosis, Hypotension, ... ORPHA:340
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Beta-Ketothiolase Deficiency
Hypertension, Hypotension, Leukocytosis, Pallor, Thrombocytosis ORPHA:134
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxi... ORPHA:99827
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy, Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Large placenta, Polyhydramnios, Redundant neck skin, Abnormal aorti... ORPHA:96334
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Meckel Syndrome, Type 1
Single umbilical artery, Occipital encephalocele, Large placenta, Breech presentation, Anencephal... OMIM:249000
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, ... OMIM:277400
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Cerebral Visual Impairment
Ischemic stroke, Premature birth, Intracranial hemorrhage ORPHA:447788
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Von Hippel-Lindau Disease
Myocarditis, Stroke, Hypertension, Cardiomyopathy, Polycythemia, Arrhythmia, Palpitations, Pallor... ORPHA:892
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Intraute... OMIM:227645
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Bruising... OMIM:600901
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Irida Syndrome
Pallor ORPHA:209981
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Bradycardia, Dry skin, Palpitations, Pallor ORPHA:91355
Adenohypophysitis
Pallor, Orthostatic hypotension, Normochromic anemia ORPHA:95512
Pituitary Apoplexy
Pallor, Hypertension, Hypotension, Normochromic anemia ORPHA:95613
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Bruising... OMIM:227650
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Growth delay, Decreased proportion of CD4-positive helper T cells, Subarachnoid hemorrhage, Eosin... OMIM:243700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Cardiomyopathy,... ORPHA:228308
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Premature skin wrinkling, Coronary artery atherosclerosis, Aortic root ... ORPHA:363618
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Megaloblastic anemia, Stroke, Pulmonary arterial hypertension, Growth delay, Thr... ORPHA:79282
Myopathy, Mitochondrial, And Ataxia
Short stature, Pallor, Growth delay OMIM:617675
Panhypophysitis
Pallor, Orthostatic hypotension, Normochromic anemia ORPHA:95513
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Incontinentia Pigmenti
Leukocytosis, Retinal hemorrhage, Short stature, Eosinophilia, Pallor, Erythema OMIM:308300
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Elevat... ORPHA:465508
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production, Hypotension ORPHA:91349
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Sickle Cell Disease
Retinopathy, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:603903
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Short stature, Intracranial hemorrh... ORPHA:109
Neuroblastoma
Abnormal bleeding, Anemia, Anemic pallor, Hypertension, Thrombocytopenia ORPHA:635
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Large placenta, Polyhydramnios, Redundant skin, Hypertrophic cardiomyop... ORPHA:116
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Retinitis Pigmentosa 75
Pallor OMIM:617023
Degcags Syndrome
Single umbilical artery, Polyhydramnios, Breech presentation, Iron deficiency anemia, Anemia, Pan... OMIM:619488
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Cardiomegaly OMIM:619259
Fumarase Deficiency
Polycythemia, Bilateral fetal pyelectasis, Polyhydramnios, Pallor OMIM:606812
Meningioma
Syncope, Cerebral hemorrhage ORPHA:2495
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Hyperbilirubinemia, A... ORPHA:14
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Patent ductus arteriosus, Interrupted aortic arch, Short stature, Thrombocytopenia, Intra... ORPHA:163979
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy ORPHA:268
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Cherry red spot of the macula OMIM:268800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Dilation of Virchow-Robin spaces, Retinal hemorrhage... OMIM:175780
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Amyloid deposition in the vitreous humor OMIM:105210
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia, Pallor, Abnormal T-wave ORPHA:2131
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Subcutaneous hemorrhage, Hypertension, C... ORPHA:394
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Prolactinoma
Delayed puberty, Pallor, Hypotension ORPHA:2965
Mogs-Cdg
Optic atrophy, Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atri... ORPHA:79330
Autosomal Recessive Malignant Osteopetrosis
Anemia, Pulmonary arterial hypertension, Growth delay, Pulmonary artery stenosis, Splenomegaly, B... ORPHA:667
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:614921
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Hyperhidrosis, Primary hyperparathyroidism ORPHA:1332
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Premature skin wrinkling, Aortic regurgitation, Angina pec... ORPHA:740
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Patent d... OMIM:227646
Childhood Absence Epilepsy
Pallor ORPHA:64280
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Abnormal liver lobulation, Asplenia, Patent ductus arteriosus, I... ORPHA:99776
Esophageal Atresia
Polyhydramnios, Growth delay, Coarctation of aorta, Tetralogy of Fallot, Absence of stomach bubbl... ORPHA:1199
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Leukocytosis, Hypertensive crisis, Thrombocytopenia, Pallor, Hemolytic... ORPHA:544482
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Hypertension, Intracranial hemorrhage ORPHA:90795
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension... ORPHA:91347
Loeys-Dietz Syndrome 3
Arterial tortuosity, Tortuous cerebral arteries, Aortic tortuosity, Pulmonic stenosis, Descending... OMIM:613795
Diaphanospondylodysostosis
Intrauterine growth retardation, Oligohydramnios, Abnormal liver lobulation, Increased nuchal tra... OMIM:608022
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cerebral hemorrhage, Patent ductus arteriosus OMIM:616682
Cockayne Syndrome Type 3
Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke... ORPHA:90324
Mucopolysaccharidosis Type 3
Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, ... ORPHA:581
Dpagt1-Cdg
Prolonged QT interval, Anemia, Stroke-like episode, Intracranial hemorrhage, Decreased fetal move... ORPHA:86309
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage, Short stature OMIM:619714
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... OMIM:619472
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Transposition of the great arteries, Ca... ORPHA:99125
Arachnoid Cyst
Subarachnoid hemorrhage, Encephalocele ORPHA:2356
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Nelson Syndrome
Hypertension, Striae distensae, Intracranial hemorrhage ORPHA:199244
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Internal hem... ORPHA:247245
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... OMIM:602782
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Hypotension, Thromboc... ORPHA:90062
Multiple Endocrine Neoplasia Type 2
Palpitations, Pallor, Hypertension associated with pheochromocytoma, Hypertensive crisis ORPHA:653
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly, Cherry red spot of the macula OMIM:230000
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ... OMIM:252500
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Hepatosplenomegaly, Cardi... OMIM:618278
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Witteveen-Kolk Syndrome
Polyhydramnios, Short stature, Growth delay, Intracranial hemorrhage, Intrauterine growth retarda... OMIM:613406
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:365
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Patent foramen ovale, Hy... OMIM:619991
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage, Anemia OMIM:233450
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Splenome... OMIM:620376
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Acute Transverse Myelitis
Orthostatic hypotension, Hypertension, Subarachnoid hemorrhage ORPHA:139417
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:256040
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Chylothorax, Paroti... ORPHA:797
Williams Syndrome
Abnormal circulating lipid concentration, Abnormal endocardium morphology, Cardiomegaly, Elevated... ORPHA:904
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Angioid streaks of the fundus, Choroidal neovascularization, Ventricula... ORPHA:51608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect ORPHA:3472
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Pmm2-Cdg
Angina pectoris, Hypertrophic cardiomyopathy, Pericarditis, Intracranial hemorrhage, Impaired neu... ORPHA:79318

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 Birc6

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 Birc6.

No publications found that use IMPC mice or data for Birc6.

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MGI Allele Allele Type Produced
Birc6em1(IMPC)Ccpcz Exon Deletion Mice

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