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Gene: Hif1a MGI:106918

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hypoxia inducible factor 1, alpha subunit
Synonyms:
HIF-1alpha,  bHLHe78,  HIF1alpha,  MOP1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Hif1a 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 Hif1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Pulmonary edema, My... OMIM:115197
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Lymphedema, Patent d... OMIM:239850
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... ORPHA:1041
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... ORPHA:2414
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Abnormality of the pulmonary ... ORPHA:1131
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... OMIM:601493
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Short neck, Edema, Cerebellar atrophy, Ascites, Pericardial e... OMIM:608776
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, P... OMIM:249670
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia OMIM:615297
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... OMIM:252011
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616501
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small thenar eminence, Camptodactyly, Mitral valve prolapse, Small... OMIM:211960
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Lower eyelid ed... ORPHA:363705
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Thickened nuchal skin fold, Pulmonic steno... OMIM:618164
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Patent ductus arteriosus, Aortic aneurysm, Fronta... ORPHA:261102
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Severe postnatal growth retardation, Camptodactyly, Knee flexion contr... ORPHA:435938
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Cerebellar hypoplasia, Camptodactyly, Cystic hygroma, Cerebellar dysplasia, Arthro... OMIM:617822
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Coenzyme Q10 Deficiency, Primary, 7
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplast... OMIM:616276
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Atrioventricu... ORPHA:453499
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia, Na... ORPHA:99811
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... ORPHA:199241
Isolated Klippel-Feil Syndrome
Short neck, Ventricular septal defect, Congenital muscular torticollis, Webbed neck, Spina bifida... ORPHA:2345
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Joint contracture of the hand, Delayed eruption of teeth, Spina bifida occu... OMIM:235510
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval ORPHA:231111
Hypocomplementemic Urticarial Vasculitis
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion ORPHA:36412
Congenital Enterovirus Infection
Hydrops fetalis, Hypotension, Myocarditis, Polyhydramnios, Pericardial effusion, Pleural effusion... ORPHA:292
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Short stature, Branchial fistula, Camptodactyly of finger, Ventricular sept... ORPHA:261330
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Tachycardia, Arrhythmia, Ventricular septal defect, Dilated cardiomyopathy,... ORPHA:26793
Atrial Standstill
Flexion contracture, Left ventricular noncompaction, Muscular dystrophy, Skeletal muscle atrophy,... ORPHA:1344
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Neonatal death, Coarctation of aorta OMIM:601612
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosence... ORPHA:2162
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Nonimmune hydrops fetalis, Dilated fourth ventricle, Cerebellar hypoplasia, ... OMIM:212065
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Hypertrophic cardiomyopathy, Pericardial... OMIM:618775
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Hydrocephalus, Macroglossia, Camptodactyly of toe, Branchial fistula, C... ORPHA:261337
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Short neck, Ventricular septal defect, Lissencephaly, Patent ductus arteriosus, Um... OMIM:612938
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Aymé-Gripp Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Chiari type I malformation, Camptodactyly, Patent... ORPHA:1272
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Aortic aneury... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Aortic aneury... ORPHA:352665
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Congenital diaphragmatic hernia ORPHA:2260
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Edema, Lower limb hypertonia, Pericarditis, Ascites, Pericardial ef... OMIM:619487
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pulmonary artery stenosis OMIM:614432
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Pleural effusion, Ascites, Pericardial effusion ORPHA:93552
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Camptodactyly, Ventricular septal defect, Patent ductus arteriosus, Broad n... OMIM:300963
Noonan Syndrome 8
Atrial septal defect, Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Short neck,... OMIM:615355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosis, Webbed ne... ORPHA:536532
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... OMIM:613426
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Alg9-Cdg
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Thickened nuchal skin fold, Sho... ORPHA:79328
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular noncompaction, Left ventricular hypertrophy, Neonatal death, Dilated cardiomyopa... OMIM:619167
Primary Intestinal Lymphangiectasia
Pleural effusion, Edema, Generalized edema, Ascites, Pericardial effusion ORPHA:90362
Alg3-Cdg
Macroglossia, Coarctation of the descending aortic arch, Hypoplasia of the pons, Neural tube defe... ORPHA:79321
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Abnormal myocardium morphology, Ascites ORPHA:77259
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis OMIM:108050
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:617044
Poems Syndrome
Pleural effusion, Ascites, Pericardial effusion, Edema ORPHA:2905
Myhre Syndrome
Generalized muscle hypertrophy, Aortic valve stenosis, Atrial septal defect, Skeletal muscle hype... OMIM:139210
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Bundle branch block, Tachyc... ORPHA:99827
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Short neck, Patent ductus arteriosus, Hypoplastic left heart, Abnormal aortic morphology ORPHA:2001
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... OMIM:615382
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Limb muscle weakness, Spina bifida, Cer... OMIM:207950
Familial Aortic Dissection
Peripheral arterial stenosis, Mucoid extracellular matrix accumulation, Ascending aortic dissecti... ORPHA:229
Mosaic Trisomy 9
Atrial septal defect, Camptodactyly of finger, Short neck, Hydrops fetalis, Oligohydramnios, Endo... ORPHA:99776
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pleural effusion, Subconjunctival hemorrhage, Epistaxis, Pericardial effusion ORPHA:464329
Q Fever
Endocarditis, Myocarditis, Pleural effusion, Abnormal heart valve morphology, Pericarditis, Peric... ORPHA:781
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Thickened nuchal skin fold, Spina bifida occulta, Aplasia of the... ORPHA:2437
Thoracoabdominal Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, Ectopia cordis, Cystic hygroma, Pate... OMIM:313850
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Atrial septal defect, Ventricular septal defect, Patent ductus arte... OMIM:619769
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Congenital diaphragmatic hernia ORPHA:63862
Gaucher Disease Type 3
Aortic valve calcification, Mitral valve calcification, Hydrops fetalis, Abnormal myocardium morp... ORPHA:77261
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction OMIM:163800
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Kapur-Toriello Syndrome
Short neck, Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arterio... ORPHA:2328
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Abnormality of dental eruption, Camptodactyly of finger, Scapular winging, Spina b... ORPHA:1327
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus, Encephalocele ORPHA:861
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Sudden cardiac death, Dilated cardiomyopathy, Pericardial effusion, Congestive h... ORPHA:73224
Cerebrocostomandibular Syndrome
Myelomeningocele, Short stature, Hydranencephaly, Ventricular septal defect, Meningocele, Webbed ... ORPHA:1393
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Thoracic aortic aneurysm, Coronary artery atherosclerosis, Ascending aorti... OMIM:132900
Pagod Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Short stature, Situs inversus totalis, P... ORPHA:991
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Amish Lethal Microcephaly
Limb hypertonia, Spina bifida, Lissencephaly ORPHA:99742
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Hennekam Syndrome
Chylothorax, Camptodactyly of finger, Hydrops fetalis, Delayed eruption of teeth, Lymphedema, Asc... ORPHA:2136
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Limb hypertonia, Edema, Cerebellar atrophy, Oligohydramnios, Pericar... OMIM:615846
Generalized Arterial Calcification Of Infancy
Medial calcification of medium-sized arteries, Arterial calcification, Calcification of the aorta... ORPHA:51608
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Short stature, Pulmonic stenosis, Left ventricular hypertr... OMIM:616564
Chédiak-Higashi Syndrome
Pleural effusion, Pericardial effusion, Edema, Cerebellar atrophy ORPHA:167
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... ORPHA:2847
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida ORPHA:957
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Cervical spina bifida, Short neck, Postnatal growth retardation, Low posterior hair... OMIM:600122
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Coarctation of the descendin... ORPHA:1457
Craniofacial Microsomia
Hydrocephalus, Hypoplasia of facial musculature, Coarctation of aorta, Tetralogy of Fallot, Ventr... OMIM:164210
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Prominent U wa... ORPHA:358
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Hydrocephalu... ORPHA:2306
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Short stature, Short neck, Coarctation of aorta, Spina bifida occu... ORPHA:508488
Neu-Laxova Syndrome 1
Joint contracture of the hand, Short umbilical cord, Short neck, Cerebellar hypoplasia, Hydranenc... OMIM:256520
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Per... ORPHA:91347
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Lymphangioleiomyomatosis
Hydrocephalus, Chylopericardium, Chylothorax, Lymphedema, Ascites ORPHA:538
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... OMIM:306955
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anencephaly, Sirenomeli... ORPHA:63260
Iniencephaly
Myelomeningocele, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosencephaly, Anencephaly,... ORPHA:63259
Neu-Laxova Syndrome
Intrauterine growth retardation, Flexion contracture, Muscular dystrophy, Polymicrogyria, Abnorma... ORPHA:2671
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Double outlet right ventricle, Dextrotransposition of the great arteri... OMIM:619702
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... OMIM:600001
Trisomy 18
Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Holoprosencephaly, Camptoda... ORPHA:3380
Scimitar Syndrome
Tricuspid atresia, Double outlet right ventricle, Hypoplasia of the diaphragm, Anomalous pulmonar... ORPHA:185
Focal Dermal Hypoplasia
Diastasis recti, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Camptodacty... ORPHA:2092
Limb Body Wall Complex
Myelomeningocele, Diastasis recti, Hydrocephalus, Atrial septal defect, Congenital diaphragmatic ... ORPHA:2369
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Atrioventricular canal defect, Coarctation of aorta, Unilateral facial palsy, Patent... OMIM:619480
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Fountain Syndrome
Spina bifida, Spina bifida occulta, Short stature ORPHA:3219
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Atrial septal defect, Atrioventricular canal defect, Shoulder muscle... OMIM:274000
Pelvis-Shoulder Dysplasia
Hydrocephalus, Short stature, Neonatal short-trunk short stature, Camptodactyly of finger, Mesome... ORPHA:2839
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Anom... ORPHA:3384
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Short stature, Short neck, Coarctation of a... ORPHA:508498
Neu-Laxova Syndrome 2
Short neck, Intrauterine growth retardation, Spina bifida, Lissencephaly OMIM:616038
Branchiooculofacial Syndrome
Short neck, Elbow flexion contracture, Branchial anomaly, Postnatal growth retardation, Facial pa... OMIM:113620
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Pachygyria, Short stature, Short neck, Coarctation... ORPHA:2308
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... ORPHA:2255
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Vater/Vacterl Association
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Patent ductus ar... OMIM:192350
Fanconi Anemia
Abnormal cardiac septum morphology, Hydrocephalus, Atrial septal defect, Hypertrophic cardiomyopa... ORPHA:84
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Shor... ORPHA:567
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Short stature, Branchial fistula, Contracture of the distal inte... OMIM:613406
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Dilatation of the... ORPHA:99094
Trisomy 20P
Camptodactyly of finger, Short neck, Umbilical hernia, Spina bifida, Low posterior hairline ORPHA:261318
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Peripheral arterial stenosis, Premature coronary artery atheroscleros... ORPHA:391665
Nail-Patella Syndrome
Short stature, Quadriceps aplasia, Biceps aplasia, Triceps aplasia, Spina bifida, Absence of pect... OMIM:161200
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Rubinstein-Taybi Syndrome 1
Vascular ring, Atrial septal defect, Hypoplastic left heart, Flexion contracture, Postnatal growt... OMIM:180849
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Limitation of neck motion, Neural tube defect, Chiari malfo... ORPHA:268810
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Hand muscle atroph... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Hand muscle atroph... ORPHA:363958
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Campomelic Dysplasia
Disproportionate short-limb short stature, Neonatal short-limb short stature, Hydrocephalus, Cont... OMIM:114290
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Short stature, Rhabdomyosarcoma, Spina bifida, Renal artery s... OMIM:162200
Pmm2-Cdg
Multiple joint contractures, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lymphedema, Ana... ORPHA:79318
Aicardi Syndrome
Gray matter heterotopia, Polymicrogyria, Postnatal growth retardation, Pachygyria, Spina bifida OMIM:304050
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Infection-Related Hemolytic Uremic Syndrome
Abnormality of chemokine secretion, Increased circulating interleukin 6 concentration, Abnormalit... ORPHA:544482
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida, Natal tooth OMIM:234100
Semilobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Short stature, Neural tube defect, Growth delay, Abnormal hea... ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Short stature, Neural tube defect, Growth delay, Abnormal hea... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Flexion contracture, Short stature, Neural tube defect, Growth delay, Abnormal hea... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Short stature, Neural tube defect, Growth delay, Abnormal hea... ORPHA:93924
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Hydromyelia, Chiari malformation, Meningo... ORPHA:573278

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 Hif1a

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 Hif1a.

No publications found that use IMPC mice or data for Hif1a.

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MGI Allele Allele Type Produced
Hif1atm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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