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Gene: Birc6 MGI:1276108

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Birc6em1(IMPC)Ccpcz HET Early adult 0.00
increased circulating creatine kinase level Birc6em1(IMPC)Ccpcz HET Early adult 2.71×10-07
no spontaneous movement Birc6em1(IMPC)Ccpcz HOM E18.5 0.00
edema Birc6em1(IMPC)Ccpcz HOM E15.5 0.00
abnormal heart morphology Birc6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal retina morphology Birc6em1(IMPC)Ccpcz HET Early adult 3.01×10-06
preweaning lethality, complete penetrance Birc6em1(IMPC)Ccpcz HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

2 Images

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FCS thumbnail FCS
MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Ethanolaminosis
Cardiomegaly OMIM:227150
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Miscarriage, Proportionate short stature, Abnorm... ORPHA:439167
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Familial Cervical Artery Dissection
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:36382
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P... ORPHA:90064
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Congenital Factor Xiii Deficiency
Umbilical cord hematoma, Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding aft... ORPHA:331
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia ORPHA:46532
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... ORPHA:73272
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Pa... ORPHA:60041
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... OMIM:619055
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive he... ORPHA:49827
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Growth delay, Neutropenia, Intrauterine growth... ORPHA:79284
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Lymphatic Malformation 2
Lymphedema OMIM:611944
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... ORPHA:280679
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia OMIM:182410
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... ORPHA:97339
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... ORPHA:99828
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrop... ORPHA:163596
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... OMIM:619170
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... OMIM:615631
Pseudo-Torch Syndrome 3
Death in infancy, Premature birth, Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital th... OMIM:618886
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... ORPHA:75564
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia... ORPHA:3032
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Fetal Gaucher Disease
Death in infancy, Pancytopenia, Decreased fetal movement, Fetal akinesia sequence, Abnormality of... ORPHA:85212
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a... ORPHA:1959
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Erythema, In... ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Short stature OMIM:616430
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Stroke-... OMIM:300845
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Miscarriage, Prolonged... ORPHA:465
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Ora... ORPHA:98870
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Fetal distress, Thrombocyt... OMIM:617397
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Intraventricular hemorrhage, Erythema, Telangiectasia... ORPHA:420741
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... ORPHA:824
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi... ORPHA:327
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
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Attrv30M Amyloidosis
Cardiomyopathy, Vitreous floaters, Cardiomegaly ORPHA:85447
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Polyhydramnios OMIM:613603
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca... ORPHA:848
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... ORPHA:49566
White Sponge Nevus 2
Edema OMIM:615785
Optic Atrophy 1
Pallor OMIM:165500
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Place... ORPHA:244242
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Leishmaniasis
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia... ORPHA:507
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Nonimmune hydrops fetalis, Reduced red cell ... OMIM:266200
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Postnatal growth retardation, Intraventricular hemorrhage, Fetal pyelectasis, Cardi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Postnatal growth retardation, Intraventricular hemorrhage, Fetal pyelectasis, Cardi... ORPHA:363958
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromi... OMIM:615234
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Lymphangiectasia, Intestinal
Stillbirth, Decreased circulating IgG level, Edema, Pedal edema OMIM:152800
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Menkes Disease
Short stature, Cutis laxa, Intracranial hemorrhage, Death in childhood, Intrauterine growth retar... OMIM:309400
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... OMIM:614702
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor ORPHA:90037
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-cone dystroph... OMIM:266500
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Decreased fetal movement, Cerebral hemorrhage, Breech presentation, Subdural he... OMIM:620278
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hern... ORPHA:254528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:611590
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... ORPHA:624
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a... OMIM:600462
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Patent ductus ar... OMIM:256520
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a... ORPHA:35858
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly OMIM:619064
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... ORPHA:231222
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Hypophosphatasia, Infantile
Death in infancy, Polyhydramnios, Intracranial hemorrhage, Stillbirth, Disproportionate short-lim... OMIM:241500
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... OMIM:212140
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... ORPHA:33226
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Stormorken Syndrome
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Howell-Jolly bodies, Asplen... OMIM:185070
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Kyphoscoliotic Ehlers-Danlos Syndrome
Decreased fetal movement, Short stature, Cerebral hemorrhage, Subdural hemorrhage, Arterial ruptu... ORPHA:536545
Tempi Syndrome
Facial erythema, Intracranial hemorrhage, Telangiectasia, Increased hematocrit, Polycythemia ORPHA:284227
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia OMIM:613839
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus OMIM:601612
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Short stature, Thrombocytosis, Increased mean platelet volume, Polyhydramni... OMIM:222470
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Premature birth, Thrombocytopenia, Leukocytosis, Splenomegaly, An... ORPHA:90051
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... ORPHA:86839
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction OMIM:253250
American Trypanosomiasis
Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhythmia ORPHA:3386
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Dilated cardiomyopathy, Arrhythmia, Antenatal intracerebral hemorrhage, Oligohy... OMIM:608836
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Pallor ORPHA:90036
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia OMIM:243500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Lymphatic Malformation 10
Lymphedema OMIM:619369
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Mosaic Trisomy 16
Premature birth, Large placenta, Patent ductus arteriosus, Coarctation of aorta, Single umbilical... ORPHA:1708
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... ORPHA:324636
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Death in childhood OMIM:246450
Propionic Acidemia
Pancytopenia, Short stature, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, Neutropenia... OMIM:606054
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Ret... ORPHA:391428
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Lethal Congenital Contracture Syndrome 5
Decreased fetal movement, Death in infancy, Polyhydramnios, Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... ORPHA:300298
Mirage Syndrome
Short stature, Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, A... OMIM:617053
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, De... ORPHA:101096
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Caesarian section, Epistaxis ORPHA:403
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia ORPHA:3099
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo... OMIM:235200
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Joubert Syndrome 14
Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension, Growth delay OMIM:614424
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... ORPHA:57777
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor ORPHA:56425
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Decreased fetal movement, Spina bifida occulta, Subdural hemorrhage, Polyhydramnios OMIM:618291
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemic pallor, Growth delay, Hematochezia, Anemia ORPHA:329971
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot of the macula OMIM:256550
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Osteogenesis Imperfecta
Aortic regurgitation, Short stature, Rhizomelia, Cerebral hemorrhage, Cutis laxa, Growth delay, A... ORPHA:666
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Growth delay, Decreased proportion of... OMIM:243700
Greenberg Dysplasia
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... OMIM:215140
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... OMIM:300908
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short stature, Pallor, Neutropenia OMIM:609053
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Retinitis Pigmentosa 51
Pallor OMIM:613464
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Tricuspid stenosis, Thrombocytosis, Congenital hypoplastic anem... OMIM:105650
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Decreased liver function, Dehydration OMIM:602199
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Hydranencephaly
Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent... ORPHA:2177
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Kagami-Ogata Syndrome
Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Dravet Syndrome
Pallor ORPHA:33069
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal lymph... ORPHA:464329
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Aspergillosis
Intracranial hemorrhage, Stroke, Eosinophilia, Neutropenia ORPHA:1163
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Hydrops fetali... OMIM:557000
Tarp Syndrome
Subdural hemorrhage, Premature rupture of membranes, Neonatal death, Intrauterine growth retardat... OMIM:311900
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Short stature, Premature birth, Increased nuchal translucency, Fetal intraventricular hemorrhage,... OMIM:618480
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... ORPHA:3260
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia OMIM:251000
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Prolonged prothrombin time, Pal... ORPHA:20
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... ORPHA:340
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Short stature, Nonimmune hydrops fetalis, Pure red... ORPHA:124
Beta-Ketothiolase Deficiency
Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis ORPHA:134
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... ORPHA:99827
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Asplenia, Large placenta, Patent ductus arteriosus, Sp... OMIM:249000
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Short stature, Miscarriage, Premature birth, Polyhydramnios, Postnatal growt... ORPHA:96334
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Premature birth ORPHA:447788
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Neutropenia, Int... OMIM:227645
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Neutropenia, Leu... OMIM:600901
Irida Syndrome
Pallor ORPHA:209981
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Pituitary Apoplexy
Hypertension, Normochromic anemia, Pallor, Hypotension ORPHA:95613
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Palpitations, Pallor, Bradycardia, Dry skin ORPHA:91355
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Neutropenia, Leu... OMIM:227650
Adenohypophysitis
Orthostatic hypotension, Pallor, Normochromic anemia ORPHA:95512
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Megaloblastic anemia, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... ORPHA:79282
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatic melanin-like lysos... OMIM:208085
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Pallor, Hypotension ORPHA:91349
Incontinentia Pigmenti
Short stature, Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor OMIM:308300
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... ORPHA:465508
Panhypophysitis
Orthostatic hypotension, Pallor, Normochromic anemia ORPHA:95513
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Short stature, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformati... ORPHA:109
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Retinopathy, Cardiomegaly OMIM:603903
Beckwith-Wiedemann Syndrome
Premature birth, Redundant skin, Polyhydramnios, Splenomegaly, Large placenta, Subchorionic septa... ORPHA:116
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Retinitis Pigmentosa 75
Pallor OMIM:617023
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Degcags Syndrome
Tachycardia, Pancytopenia, Premature birth, Polyhydramnios, Congenital hypoplastic anemia, Echoge... OMIM:619488
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:619259
Meningioma
Syncope, Cerebral hemorrhage ORPHA:2495
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Thrombocytopenia, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage,... 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
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormality of retinal pigmentation, Cardi... ORPHA:14
Fumarase Deficiency
Bilateral fetal pyelectasis, Polycythemia, Pallor, Polyhydramnios OMIM:606812
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... OMIM:175780
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly OMIM:268800
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Pulmonary artery stenosis, Growth delay, Pallor, Pulmonary arterial hypertension, B... ORPHA:667
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Amyloid deposition in the vitreous humor, Cardiomegaly OMIM:105210
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Hyperhidrosis ORPHA:1332
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... ORPHA:79330
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Mosaic Trisomy 9
Polyhydramnios, Asplenia, Patent ductus arteriosus, Hydrops fetalis, Abnormal liver lobulation, I... ORPHA:99776
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Anemic pallor, Thrombocytopenia, Patent ductus arteriosus, Reticuloc... OMIM:227646
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Esophageal Atresia
Polyhydramnios, Coarctation of aorta, Growth delay, Pallor, Absence of stomach bubble on fetal so... ORPHA:1199
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, D... ORPHA:91347
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Short stature ORPHA:90795
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... OMIM:613795
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Hypertensive... ORPHA:544482
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Diaphanospondylodysostosis
Intrauterine growth retardation, Increased nuchal translucency, Abnormal liver lobulation, Oligoh... OMIM:608022
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiom... ORPHA:90324
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage, Short stature OMIM:619714
Dpagt1-Cdg
Prolonged QT interval, Decreased fetal movement, Fetal akinesia sequence, Stroke-like episode, In... ORPHA:86309
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Abnormal aortic ... ORPHA:581
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Congenital Total Pulmonary Venous Return Anomaly
Low 5-minute APGAR score, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmon... ORPHA:99125
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Arachnoid Cyst
Encephalocele, Subarachnoid hemorrhage ORPHA:2356
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Short stature, Arterial tortuosi... OMIM:619472
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Striae distensae ORPHA:199244
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Fucosidosis
Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly OMIM:230000
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... ORPHA:90062
Multiple Endocrine Neoplasia Type 2
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Optic atrophy, Retinal atrophy, Cardiomegaly ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... OMIM:252500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Polyhydramnios, Intracranial hemorrhage, Growth delay, Intraute... OMIM:613406
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:365
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Liver Disease, Severe Congenital
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... OMIM:619991
Goodpasture Syndrome
Pallor, Anemia, Pulmonary hemorrhage OMIM:233450
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Sarcoidosis
Hepatomegaly, Hyperthyroidism, Portal hypertension, Abnormal liver parenchyma morphology, Joint s... ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Choroidal neovascularization, Cardiomegaly, Pericardial effusion, Abnorm... ORPHA:51608
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... ORPHA:904
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Pmm2-Cdg
Pericarditis, Angina pectoris, Intracranial hemorrhage, Impaired neutrophil chemotaxis, Hypertrop... 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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