Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
edema Birc6em1(IMPC)Ccpcz HOM E15.5 0.00
increased circulating creatine kinase level Birc6em1(IMPC)Ccpcz HET Early adult 2.71×10-07
preweaning lethality, complete penetrance Birc6em1(IMPC)Ccpcz HOM   Early adult 0.00
no spontaneous movement Birc6em1(IMPC)Ccpcz HOM E18.5 0.00
abnormal heart morphology Birc6em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Birc6em1(IMPC)Ccpcz HET Early adult 0.00

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.


XRay Images Hind Leg and Hip

32 Images


XRay Images Skull Dorso Ventral Orientation

16 Images


XRay Images Forepaw

16 Images


XRay Images Whole Body Dorso Ventral

32 Images


XRay Images Skull Lateral Orientation

16 Images


XRay Images Whole Body 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
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Cardiomegaly OMIM:227150
Edema OMIM:614103
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Placental Insufficiency
Miscarriage, Abnormal placenta morphology, Preeclampsia, Small placenta, Eclampsia, Abnormal umbi... ORPHA:439167
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... ORPHA:36382
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Stroke, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarc... ORPHA:90064
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Stillbirth OMIM:265880
Congenital Factor Xiii Deficiency
Joint hemorrhage, Persistent bleeding after trauma, Prolonged bleeding after dental extraction, S... ORPHA:331
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Pallor, Splenomegaly ORPHA:46532
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Small... ORPHA:73272
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Familial Afibrinogenemia
Miscarriage, Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis ORPHA:98880
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Cere... OMIM:263300
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Intraventricular hemorrhage, Death in adolescence, Neonatal death, Death in i... OMIM:619055
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Bruising susceptibility, Abnormal bleeding, Intracranial he... OMIM:173470
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Neutropenia, Growth delay, Intrauterine growth... ORPHA:79284
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Stroke, Short stature, Pallor, Paroxysmal atrial tachycardia, Thrombocytope... ORPHA:49827
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Lymphatic Malformation 2
Lymphedema OMIM:611944
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Delayed puberty,... ORPHA:280679
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Postnatal growth retardation, Oligohydramnios, Intrauterine growth retardation ORPHA:397590
Acute Myelomonocytic Leukemia
Leukocytosis, Abnormal bleeding, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... ORPHA:136
Erythrocytosis, Familial, 1
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Sneddon Syndrome
Stroke, Cerebral hemorrhage, Lymphopenia, Hypertension, Ischemic stroke OMIM:182410
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Pallor, Poikilocytosis, Growth dela... OMIM:615234
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Dural Sinus Malformation
Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor... ORPHA:97339
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pallor, Hydrops fetalis, Preeclampsia, Pericarditis, Polyhydra... ORPHA:163596
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Leukopenia, Hypotension, Gingival bleedi... ORPHA:99828
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Death in infancy, Hypertension, A... OMIM:618886
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Increased hematocrit, Hypotension, Increased red blood cell mass, In... OMIM:263400
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Short stature, Pallor, Poiki... OMIM:615631
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal cerebra... OMIM:300845
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Abnor... ORPHA:75564
Retinitis Pigmentosa 42
Pallor OMIM:612943
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... ORPHA:53719
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... ORPHA:31825
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Polyhydramnios, Oligohydramnios, ... ORPHA:3032
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... ORPHA:774
Chilblain Lupus 2
Edema OMIM:614415
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Leukocytosis, Cerebral ischemia, Syncope, Prolonged Q... ORPHA:90065
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... ORPHA:853
Fetal Gaucher Disease
Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnormality of the spleen, Neonatal death... ORPHA:85212
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Retinitis Pigmentosa 60
Pallor OMIM:613983
Retinitis Pigmentosa 81
Pallor OMIM:617871
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Bruising susceptibility, Pallor,... ORPHA:1959
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:600649
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Miscarriage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hem... ORPHA:465
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, C... OMIM:617713
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... ORPHA:326
Snakebite Envenomation
Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Erythema, Cardiogenic shock, Hyp... ORPHA:449285
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Optic Atrophy 9
Pallor OMIM:616289
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Abnormality of the umbilical c... ORPHA:327
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Riddle Syndrome
Short stature, Intraventricular hemorrhage, Conjunctival telangiectasia, Erythema, Scaling skin, ... ORPHA:420741
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Post-partum hemorrhage, Short stature, Pallor, Anisocy... ORPHA:98870
Primary Myelofibrosis
Petechiae, Leukocytosis, Splenomegaly, Abnormal bleeding, Extramedullary hematopoiesis, Hepatospl... ORPHA:824
Hellp Syndrome
Cerebral hemorrhage, Placental abruption, Preeclampsia, Hypotension, Hemolytic anemia, Eclampsia,... ORPHA:244242
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Thrombocytopenia, Fetal distress, Brady... OMIM:617397
Peripheral Cone Dystrophy
Pallor OMIM:609021
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Postnatal growth retardation, Umbilical hernia, Large placenta ORPHA:254534
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... OMIM:300257
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Miscarriage, Spinal arteriovenous malformation, Hemothorax, P... OMIM:187300
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... OMIM:600462
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Splenomegaly, Leukocytosis, Myeloproliferative disorder, Intracranial he... ORPHA:3226
Abnormal hemoglobin, Splenomegaly, Pallor, Thrombocytopenia, Microcytic anemia, Skin ulcer, Anemi... ORPHA:848
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Thrombocytopenia, Pyoderma ... ORPHA:49566
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage OMIM:614483
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc... ORPHA:464321
White Sponge Nevus 2
Edema OMIM:615785
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... OMIM:177850
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Palpitations, Tachycardia, Maternal diabetes, Syncope, Hypertrophic cardiomyopathy ORPHA:276580
Optic Atrophy 1
Pallor OMIM:165500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Pallor, Arrhythmia, Hemolytic anemia, Congestive hea... ORPHA:98375
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Koolen-De Vries Syndrome Due To A Point Mutation
Pulmonic stenosis, Intraventricular hemorrhage, Aortic aneurysm, Fetal pyelectasis, Postnatal gro... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pulmonic stenosis, Intraventricular hemorrhage, Aortic aneurysm, Fetal pyelectasis, Postnatal gro... ORPHA:363958
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Pallor, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Chronic hemo... OMIM:266200
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Lymphangiectasia, Intestinal
Pedal edema, Stillbirth, Edema, Decreased circulating IgG level OMIM:152800
Menkes Disease
Cutis laxa, Short stature, Death in childhood, Intracranial hemorrhage, Intrauterine growth retar... OMIM:309400
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Splenomegaly, Abnormal bleeding, Pallor, Leukopenia, Abnormal macrophage morphology, Pancytopenia... ORPHA:507
Fetal Akinesia Deformation Sequence 1
Stillbirth, Fetal akinesia sequence, Short umbilical cord, Small placenta, Polyhydramnios, Intrau... OMIM:208150
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276556
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Palpitations, Tachycardia, Maternal diabetes, Syncope ORPHA:324575
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Retinitis Pigmentosa 70
Pallor OMIM:615922
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Pallor, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure ORPHA:90037
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyper... OMIM:255120
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276575
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Restrictive Dermopathy
Short umbilical cord, Small placenta, Polyhydramnios, Premature delivery because of cervical insu... ORPHA:1662
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
Hereditary Spherocytosis
Spherocytosis, Splenomegaly, Restrictive cardiomyopathy, Extramedullary hematopoiesis, Spontaneou... ORPHA:822
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Skin ulcer, ... ORPHA:624
Retinitis Pigmentosa 27
Pallor OMIM:613750
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis OMIM:227500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Umbilical hernia, Redundant neck skin, Postnatal growth retardation, Intrauterine... ORPHA:254528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia ORPHA:276608
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hyperprolinemia, Hepatomegaly, Cardiomegaly OMIM:619064
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Small placenta, Polyhydra... OMIM:256520
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... OMIM:611590
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Death in early adulthood ORPHA:100006
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Intracranial hemorrhage, Polyhydramnios, Death in infa... OMIM:241500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Decreased plasma carnitine, Hypertrophi... OMIM:212140
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Abnormal bleeding, Pallor, Tachycardia, Anisopoikilocytosis, M... ORPHA:35858
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Hypothyroidism, Patent ductu... OMIM:608104
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:601005
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Death in early adulthood ORPHA:100008
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Short stature, Arterial ruptur... ORPHA:536545
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Cerebral hemorrhage, B lymphocytopenia, Neutropenia OMIM:301081
Retinitis Pigmentosa 73
Pallor OMIM:616544
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Tempi Syndrome
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Facial erythema, Telangiectasia ORPHA:284227
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Stroke, Intracranial hemorrhage ORPHA:140989
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231222
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231214
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Iron deficiency anemia, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Cerebral edema, Elevated circulating alanine aminotransfe... OMIM:603471
Waldenström Macroglobulinemia
Stroke, Splenomegaly, Pallor, Normocytic anemia, Retinal hemorrhage, Vasculitis, Gingival bleedin... ORPHA:33226
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hematochezia, Spontaneous hematomas, Skin ulcer, Prolonged bleeding time, R... ORPHA:906
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Conge... ORPHA:90033
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death OMIM:601612
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Sepsis In Premature Infants
Petechiae, Leukocytosis, Splenomegaly, Abnormal bleeding, Pallor, Caesarian section, Tachycardia,... ORPHA:90051
Mosaic Trisomy 16
Single coronary artery origin, Premature birth, Preeclampsia, Coarctation of aorta, Maternal diab... ORPHA:1708
Trichohepatoenteric Syndrome 1
Splenomegaly, Pulmonic stenosis, Short stature, Tetralogy of Fallot, Increased mean platelet volu... OMIM:222470
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Preeclampsia, Caesarian section, Hypertension, Epistaxis ORPHA:403
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Dilated cardiomyopathy, Death in infancy, Antenatal intracerebral hemorrhage, Oligohy... OMIM:608836
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
American Trypanosomiasis
Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart failure ORPHA:3386
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Parkes Weber Syndrome
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:90307
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Anemic pallor, Re... ORPHA:86839
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Cerebellar hemorrhage, Pancytopenia OMIM:243500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferati... ORPHA:98849
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... ORPHA:324636
Lymphatic Malformation 10
Lymphedema OMIM:619369
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increased serum iron, C... OMIM:235200
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Mirage Syndrome
Petechiae, Lymphopenia, Short stature, Intracranial hemorrhage, Leukopenia, Patent ductus arterio... OMIM:617053
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Left ve... ORPHA:57777
Propionic Acidemia
Cerebellar hemorrhage, Short stature, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Cardio... OMIM:606054
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasm... OMIM:201475
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood, Anemia OMIM:246450
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Polyhydramnios, Lymphedema, Feta... OMIM:620014
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Bruising susceptibility, Abnormal bleed... ORPHA:101096
Rheumatic Fever
Pallor, Erythema, Arrhythmia, Myocarditis, Pericarditis, Epistaxis ORPHA:3099
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic er... ORPHA:300298
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Cold Agglutinin Disease
Hemolytic anemia, Pallor, Splenomegaly ORPHA:56425
Osteogenesis Imperfecta
Cerebral hemorrhage, Bruising susceptibility, Short stature, Cutis laxa, Arterial dissection, Aor... ORPHA:666
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Postnatal growth retardation, Abnormal internal carotid artery morphology, Abnormal cerebral arte... ORPHA:2177
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasm... ORPHA:42
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... ORPHA:494424
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... OMIM:243700
Greenberg Dysplasia
Disproportionate short-limb short stature, Echogenic fetal bowel, Hepatosplenomegaly, Hydrops fet... OMIM:215140
Menkes Disease
Abnormal carotid artery morphology, Intracranial hemorrhage, Dry skin, Vascular dilatation, Arter... ORPHA:565
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Pallor, Splenomegaly OMIM:611804
Rare Circulatory System Disease
Intermittent claudication, Arterial calcification, Pallor, Abnormal systemic arterial morphology,... ORPHA:98028
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Caesarian section, Second degree atrioventricular block, Hypertension, P... ORPHA:369929
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemic pallor, Hematochezia, Growth delay, Anemia ORPHA:329971
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Dehydration, Neonatal death OMIM:602199
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Oligohydramn... OMIM:208540
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Fanconi Anemia, Complementation Group I
Pallor, Short stature, Intrauterine growth retardation, Neutropenia OMIM:609053
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Neonat... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Neonat... OMIM:618839
Refsum Disease, Classic
Elevated levels of phytanic acid, Cardiomyopathy, Cardiomegaly OMIM:266500
Kagami-Ogata Syndrome
Polyhydramnios, Postnatal growth retardation, Premature birth, Large placenta ORPHA:254519
Kaposiform Lymphangiomatosis
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormal spleen morphology, Hepatosplen... ORPHA:464329
Familial Hyperaldosteronism Type Ii
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:404
Restrictive Dermopathy 1
Premature rupture of membranes, Intrauterine growth retardation, Short umbilical cord, Neonatal d... OMIM:275210
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Pallor, Eosinophilia, Hepatosplenomegaly, Abnormal B cell cou... ORPHA:331206
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Retinitis Pigmentosa 51
Pallor OMIM:613464
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:246400
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Eosinophilia, Intracranial hemorrhage, Stroke, Neutropenia ORPHA:1163
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Leukocytosis, Palpitations, Tachycardia, Intracranial hemorrhage,... ORPHA:340
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Leukopenia, Neutropenia, Thrombocytopenia, Cardiomyopathy OMIM:251000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Pallor, Increased red cell hemolysis by shear stress, Increased mean corpuscular he... OMIM:194380
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Dehydration, Neonatal death, Hepatic cysts, Port... OMIM:263200
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Thrombocytopenia, Dilated cardiomyopathy, Hypertroph... ORPHA:99901
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Pallor, Refractory sideroblastic anemia, D... OMIM:557000
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hemothorax, Myocarditis, Spontaneous h... ORPHA:99827
Dravet Syndrome
Pallor ORPHA:33069
Diamond-Blackfan Anemia 1
Congestive heart failure, Congenital hypoplastic anemia, Tricuspid stenosis, Short stature, Pallo... OMIM:105650
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Neutrophilia, Vasculitis in the skin, Raynaud phenomenon, Splenomega... ORPHA:3260
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pallor, Tachycardia, Junctional ect... ORPHA:137675
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Postnatal growth retardation, Cutis laxa, Hypertrophic cardiomyopathy, Short stature... ORPHA:96334
Meckel Syndrome, Type 1
Intrauterine growth retardation, Breech presentation, Splenomegaly, Accessory spleen, Anencephaly... OMIM:249000
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Pallor, Leukopenia, Hypotension, Thrombocytosis, Dilated cardiomyopathy, Anemia, Ca... ORPHA:20
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Short stature, Persistence of hemoglobin F, Pallo... ORPHA:124
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Premature birth ORPHA:447788
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Tachycardia ORPHA:263455
Beta-Ketothiolase Deficiency
Leukocytosis, Pallor, Hypotension, Thrombocytosis, Hypertension ORPHA:134
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:231625
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Abnormality of iron hom... ORPHA:465508
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia ORPHA:391428
Fanconi Anemia, Complementation Group C
Neutropenia, Bruising susceptibility, Short stature, Anemic pallor, Thrombocytopenia, Pancytopeni... OMIM:227645
Fanconi Anemia, Complementation Group E
Neutropenia, Bruising susceptibility, Short stature, Anemic pallor, Thrombocytopenia, Pancytopeni... OMIM:600901
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic atherosclerotic lesion, Mitral regurgitation, Intracranial hemorrha... ORPHA:363618
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, E... ORPHA:228308
Von Hippel-Lindau Disease
Abnormal left ventricular function, Stroke, Polycythemia, Pallor, Palpitations, Arrhythmia, Myoca... ORPHA:892
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Stroke, Subdural hemorrhage, Hydrops fetalis, Pulmonary embolism, Thrombocy... ORPHA:79282
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Increased circulating NT-proBNP concentration, Elevated circulating c... OMIM:232300
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:255249
Pituitary Apoplexy
Pallor, Hypertension, Normochromic anemia, Hypotension ORPHA:95613
Fanconi Anemia, Complementation Group A
Neutropenia, Bruising susceptibility, Short stature, Anemic pallor, Thrombocytopenia, Pancytopeni... OMIM:227650
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Sheehan Syndrome
Pallor, Orthostatic hypotension, Palpitations, Dry skin, Normochromic anemia, Bradycardia ORPHA:91355
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Irida Syndrome
Pallor ORPHA:209981
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Short stature, Intracranial... ORPHA:109
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Pallor, Orthostatic hypotension, Normochromic anemia ORPHA:95512
Myopathy, Mitochondrial, And Ataxia
Pallor, Growth delay, Short stature OMIM:617675
Fumarase Deficiency
Polycythemia, Pallor OMIM:606812
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production, Hypotension ORPHA:91349
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, H... ORPHA:308552
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Tachycardia ORPHA:348
Incontinentia Pigmenti
Leukocytosis, Short stature, Pallor, Eosinophilia, Erythema, Retinal hemorrhage OMIM:308300
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Splenomegaly, Polycythemia, Redundant skin, Polyhydramnios, Umbilical h... ORPHA:116
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Cerebral hemorrhage, Syncope ORPHA:2495
Pallor, Orthostatic hypotension, Normochromic anemia ORPHA:95513
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Intracranial hemorrhage, Heart murmur, Thrombocytopenia, Patent ductus arteriosus,... ORPHA:163979
Retinitis Pigmentosa 75
Pallor OMIM:617023
Degcags Syndrome
Echogenic fetal bowel, Congenital hypoplastic anemia, Pulmonic stenosis, Anemia, Leukopenia, Tach... OMIM:619488
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:616897
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Corneal neovascularization, Retinal hemorrhage, Hemolytic anemia, Retinal ar... OMIM:175780
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Classic Homocystinuria
Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Pulmonary embolism,... ORPHA:394
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis, Abnormal liver parenchyma morphology ORPHA:1332
Delayed puberty, Pallor, Hypotension ORPHA:2965
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Bruising susceptibility, Splenomegaly, Pallor, Growth delay, Anemia, P... ORPHA:667
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Elevated circulating creatine kinase concentration, Ventricular septal defect, Dila... OMIM:614921
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Mitral stenosis, Carotid artery occlusion, Stroke, Aortic valve stenosis, Raynau... ORPHA:740
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Mosaic Trisomy 9
Abnormal liver lobulation, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Oligohydram... ORPHA:99776
Fanconi Anemia, Complementation Group D2
Neutropenia, Bruising susceptibility, Short stature, Anemic pallor, Thrombocytopenia, Patent duct... OMIM:227646
Abnormal liver lobulation, Oligohydramnios, Intrauterine growth retardation, Increased nuchal tra... OMIM:608022
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... OMIM:613795
Esophageal Atresia
Pallor, Maternal diabetes, Coarctation of aorta, Absence of stomach bubble on fetal sonography, T... ORPHA:1199
Childhood Absence Epilepsy
Pallor ORPHA:64280
Porphyria Cutanea Tarda
Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma, Elevated hepat... ORPHA:101330
Hepatomegaly, Cardiomegaly ORPHA:349
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Delayed p... ORPHA:91347
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage, Short stature OMIM:619714
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage, Short stature ORPHA:90795
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Splenomegaly, Mild postna... ORPHA:90324
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Pallor, Myocarditis, Hemolytic anemia, Hypertensive crisis, Hypertension, Thrombocy... ORPHA:544482
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Arachnoid Cyst
Encephalocele, Subarachnoid hemorrhage ORPHA:2356
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Iliac artery aneurysm, ... OMIM:619472
Fetal akinesia sequence, Intracranial hemorrhage, Anemia, Prolonged QT interval, Stroke-like epis... ORPHA:86309
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Low 5-minute ... ORPHA:99125
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Decreased HD... ORPHA:14
Nelson Syndrome
Hypertension, Intracranial hemorrhage, Striae distensae ORPHA:199244
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Acute Liver Failure
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Shock, Gastroin... ORPHA:90062
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Multiple Endocrine Neoplasia Type 2
Pallor, Hypertension associated with pheochromocytoma, Palpitations, Hypertensive crisis ORPHA:653
Superficial Siderosis
Arteriovenous malformation, Persistent bleeding after trauma, Abnormal bleeding, Abnormal vertebr... ORPHA:247245
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Cerebellar hemorrhage ORPHA:616
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Ventricular hypertrophy, Cardi... OMIM:618278
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Increased serum beta-hexosaminidase, Enlarged kidney, Hypertrophic ca... OMIM:252500
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Abnormal aortic valve morphology, A... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Witteveen-Kolk Syndrome
Short stature, Intracranial hemorrhage, Branchial fistula, Polyhydramnios, Growth delay, Intraute... OMIM:613406
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, H... ORPHA:365
Liver Disease, Severe Congenital
Intrauterine growth retardation, Exocrine pancreatic insufficiency, Hepatomegaly, Pulmonary edema... OMIM:619991
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Ogden Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Hyperbilirubinemia, Atrial septal defect, E... OMIM:300855
Goodpasture Syndrome
Anemia, Pulmonary hemorrhage, Pallor OMIM:233450
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension ORPHA:139417
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Decreased HDL ... OMIM:256040
Decreased liver function, Joint swelling, Hepatomegaly, Chylothorax, Hyperthyroidism, Hepatic fai... ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Abnormal circula... ORPHA:904
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopathy, Cardiomegaly ORPHA:3472
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Myocardial calcification, Ventricular hypertrophy, Pericardial effusion... ORPHA:51608
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Angina pectoris, Intracranial hemorrhage, Impaired neutrophil chemotaxis, Pericarditis, Hypertrop... ORPHA:79318


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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