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Gene: Anapc7 MGI:1929711

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Gene Summary

Name:
anaphase promoting complex subunit 7
Synonyms:
APC7,  prediabetic NOD sera-reactive autoantigen

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Anapc7em1(IMPC)J HOM   Early adult 0.00
decreased erythrocyte cell number Anapc7em1(IMPC)J HOM Early adult 1.65×10-10
increased total body fat amount Anapc7em1(IMPC)J HOM Early adult 1.06×10-06
increased leukocyte cell number Anapc7em1(IMPC)J HOM Early adult 5.60×10-05
decreased locomotor activity Anapc7em1(IMPC)J HOM   Early adult 9.37×10-05
abnormal bone structure Anapc7em1(IMPC)J HOM Early adult 1.62×10-08
decreased mean corpuscular volume Anapc7em1(IMPC)J HOM Early adult 5.61×10-08
decreased mean corpuscular hemoglobin Anapc7em1(IMPC)J HOM Early adult 3.05×10-07
decreased heart rate Anapc7em1(IMPC)J HOM Early adult 2.82×10-07
decreased bone mineral content Anapc7em1(IMPC)J HOM Early adult 1.88×10-06
prolonged RR interval Anapc7em1(IMPC)J HOM Early adult 2.39×10-09
female infertility Anapc7em1(IMPC)J HOM Early adult 0.00
impaired glucose tolerance Anapc7em1(IMPC)J HOM   Early adult 1.95×10-05
decreased hematocrit Anapc7em1(IMPC)J HOM Early adult 1.89×10-17

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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 Skull Dorso Ventral Orientation

3 Images

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Electroretinography 3

Fundus file

9 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Forepaw

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Anapc7 mutations

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

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

The table below shows human diseases associated to Anapc7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ferguson-Bonni Neurodevelopmental Syndrome
Premature ovarian insufficiency, Congenital diaphragmatic hernia OMIM:619699

The table below shows human diseases predicted to be associated to Anapc7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Dysplasia Of Head Of Femur, Meyer Type
Waddling gait, Multicentric femoral head ossification, Antalgic gait, Leukocytosis, Delayed femor... ORPHA:168621
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility OMIM:300604
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia ORPHA:228169
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Cln3 Disease
Ataxia, Vacuolated lymphocytes, Bradykinesia, T-wave inversion, Bradycardia, Shuffling gait, Loss... ORPHA:228346
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Necrotizing Enterocolitis
Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose homeostasis, Letharg... ORPHA:391673
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Osteoporosis, Hypertensi... OMIM:610947
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint contracture of the... OMIM:614407
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... ORPHA:3077
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop... OMIM:618815
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia OMIM:620265
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Diabetes mellitus, Cardiomyopathy, Hypogonadism, Bradycardia, Ga... OMIM:609286
Idiopathic Congenital Hypothyroidism
Lethargy, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Bradycardia ORPHA:95717
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu... OMIM:212138
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hypoglycemia, Bradycardia OMIM:619048
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Impotence, Glucose intolerance, Ar... OMIM:606069
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Splenomegaly,... OMIM:613327
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... ORPHA:231222
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... ORPHA:324575
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Pseudo-Torch Syndrome 2
Thrombocytopenia, Lethargy, Bradycardia, Cerebral hemorrhage OMIM:617397
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy, Thro... OMIM:618775
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, F... ORPHA:276580
Familial Pseudohyperkalemia
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... OMIM:601005
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Osteoporosis, Hypertension, Increased mean corpuscular volume, N... ORPHA:2169
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Familial Thyroid Dyshormonogenesis
Lethargy, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Bradycardia ORPHA:95716
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Cardiomyopathy, Bradycardia, P... OMIM:615745
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Gm2 Gangliosidosis, Ab Variant
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Inappropriat... ORPHA:309246
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Delayed epiphyseal ossification, Bradycardia, Absent ossification of capital fe... ORPHA:226313
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia OMIM:614702
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Sepsis In Premature Infants
Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Bradycardia, Hypotension, Neutropenia,... ORPHA:90051
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Anemia ORPHA:37748
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosi... OMIM:620351
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Sheehan Syndrome
Dyspareunia, Orthostatic hypotension, Decreased female libido, Hypoglycemia, Impotence, Normochro... ORPHA:91355
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ... OMIM:612561
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... OMIM:127550
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, Fasting hypoglycemia... ORPHA:276575
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Congenital foot contractures, Tip-toe gait, Bradycardia, Loss of ambulation, Neon... ORPHA:565624
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Osteopo... OMIM:235200
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Peripartum Cardiomyopathy
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... ORPHA:563
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Syncope, Palpi... ORPHA:276556
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopet... OMIM:612840
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypo... ORPHA:276608
Juvenile Temporal Arteritis
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia ORPHA:26137
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Cryptorchidism, Thrombocytopenia, Reduced ... OMIM:617052
Lujo Hemorrhagic Fever
Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio... ORPHA:319213
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Tempi Syndrome
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia ORPHA:284227
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... OMIM:616812
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Lethargy, Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot... ORPHA:94093
Marburg Hemorrhagic Fever
Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Hypoglycemia, Orchitis, Hypovolem... ORPHA:99826
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia OMIM:619272
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia OMIM:612562
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia OMIM:608800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Bradycardia ORPHA:90673
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop... ORPHA:99827
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An... ORPHA:91547
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Cranial hyperostosis, Imbalanced hem... ORPHA:330015
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
D-Glyceric Aciduria
Hypoglycemia, Bradycardia OMIM:220120
Aromatase Deficiency
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute m... ORPHA:811
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Inability to walk, Flexion contracture, Elbow flexion contracture, K... ORPHA:70
Eisenmenger Syndrome
Ventricular tachycardia, Iron deficiency anemia, Supraventricular tachycardia, Lethargy, Brain ab... ORPHA:97214
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Stiff-Person Syndrome
Hypertension, Tachycardia, Diabetes mellitus, Anemia OMIM:184850
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Bradycardia, Macroorchidism, ... ORPHA:90674
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia OMIM:610768
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia ORPHA:90037
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog... OMIM:618397
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Premature ovarian insufficiency, Female infertility OMIM:619518
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, ... ORPHA:261250
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia OMIM:614653
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased m... ORPHA:90041
Yellow Fever
Shock, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Capillary leak, Redu... ORPHA:99829
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Bradycardia, Neonatal hypoglycemia, Neutropenia OMIM:617248
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Syncope, Infertility, Anemia ORPHA:71273
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Delayed proximal femoral epiphyseal ossification, Um... ORPHA:226307
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy, Elevated hemoglo... OMIM:269700
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Irregular os... OMIM:260400
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypertension, Target cells, Inc... OMIM:603903
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Osteoporosis, Bradycardia, Enamel hypoplasia, Anemia ORPHA:79404
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Hiatus hernia OMIM:619769
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Leukocytosis, Vasculitis, Increased proportion of CD4-positive T cel... OMIM:617099
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Bohring-Opitz Syndrome
Inability to walk, Congenital contracture, Bilateral wrist flexion contracture, Bradycardia ORPHA:97297
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Umbilical hernia, Bradycardia OMIM:218700
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... ORPHA:137675
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Cushing Disease
Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Myocardial infarction, Leuk... ORPHA:96253
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia ORPHA:139411
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Prolonged QT interval, Premature ovarian insufficiency, Myocardial infarction, Female... ORPHA:99413
Turner Syndrome
Osteopenia, Prolonged QT interval, Premature ovarian insufficiency, Myocardial infarction, Female... ORPHA:881
Mosaic Monosomy X
Osteopenia, Prolonged QT interval, Premature ovarian insufficiency, Myocardial infarction, Female... ORPHA:99228
Monosomy X
Osteopenia, Prolonged QT interval, Premature ovarian insufficiency, Myocardial infarction, Female... ORPHA:99226
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death, Testicular teratoma ORPHA:764
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia OMIM:614437
Cogan Syndrome
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia ORPHA:1467
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hern... OMIM:301040
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:600376
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Sinus bradycardia OMIM:619482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, G... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Ferguson-Bonni Neurodevelopmental Syndrome
Premature ovarian insufficiency, Congenital diaphragmatic hernia OMIM:619699

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 Anapc7

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 Anapc7.

No publications found that use IMPC mice or data for Anapc7.

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MGI Allele Allele Type Produced
Anapc7tm45056(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Anapc7em1(IMPC)J Exon Deletion Mice
Anapc7tm45056(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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