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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
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Ascites OMIM:256150
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao... OMIM:239850
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, S... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Abnormality of the pulmonary ar... ORPHA:1131
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Meckel Syndrome, Type 8
Pericardial effusion, Short neck, Occipital encephalocele, Encephalocele OMIM:613885
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... OMIM:614702
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Short stature, Patent ductus arteri... OMIM:249670
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Increased circulating IgE level, Reduced circulating C-reactive ... OMIM:618944
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Cerebellar vermis hypoplasia, Multiple muscular ventricular septal defects, Polyhydramnios, Aorti... OMIM:620070
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Increased myocardial glycogen content, Ventricular fi... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentration, Elev... ORPHA:178320
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Spina bifida, Sm... OMIM:211960
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Aortic aneurysm, Hydrocephalus, Frontal encephalocele, Patent du... ORPHA:261102
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:620514
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Branchial cyst, Knee flexion contracture, Severe postnatal growth reta... ORPHA:435938
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Polyhydramnios, Ventr... ORPHA:363705
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Ascites, Short neck, Atrial septal defect, Pericardial effusion, Hydrops fetalis OMIM:608776
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth, Patent ductus arteriosus, Abnormal cardiac septum m... ORPHA:99811
Alkuraya-Kucinskas Syndrome
Webbed neck, Cerebellar dysplasia, Pleural effusion, Cerebellar hypoplasia, Camptodactyly, Hydroc... OMIM:617822
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retar... ORPHA:453499
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Increased circulating interleukin 10 concentration OMIM:613759
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis fa... ORPHA:158061
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar vermis hypoplasia, Skeletal muscle atrophy, Cerebellar atrophy, Cardiomyopathy, Perica... OMIM:620089
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal aortic valve morphology,... ORPHA:1120
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger ORPHA:1759
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Delayed eruption of teeth, Umbilical hernia, Ly... OMIM:235510
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Low posterior hairline, Ventricular septal defect, ... ORPHA:2345
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Pericardial effusion ORPHA:36412
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypert... OMIM:618280
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... ORPHA:292
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... ORPHA:1344
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Camptodactyly of finger, Intrauterine growth retardation, Truncus arteriosus, ... ORPHA:261330
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra... ORPHA:85435
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Cerebellar atrophy, Cardiomyopathy, Dilated fourth ventricle, Nonim... OMIM:212065
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Congenital diaphragmati... ORPHA:2162
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial ... OMIM:611134
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration OMIM:615010
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Abnormality of tumor necrosis factor secretion, Increased circulating interferon... ORPHA:540
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... OMIM:618775
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Camptodactyly of finger, Ventricular septal defect, Low posterior... ORPHA:261337
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septa... OMIM:612938
Branchiootic Syndrome
Facial palsy, Branchial fistula ORPHA:52429
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Macroglossia, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventri... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Macroglossia, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventri... ORPHA:352665
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas... ORPHA:101030
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion ORPHA:79126
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Chiari type I malformation, Camptodactyly, Hydrocephalus, Perica... ORPHA:1272
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Myositis, Pericardial effusion, Edema ORPHA:93552
Bor Syndrome
Facial palsy, Branchial cyst ORPHA:107
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema ORPHA:90362
Oligomeganephronia
Congenital diaphragmatic hernia, Secundum atrial septal defect, Branchial cyst ORPHA:2260
Noonan Syndrome 8
Webbed neck, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Left ventricular... OMIM:615355
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... OMIM:619167
Aicardi-Goutieres Syndrome 9
Edema, Ascites, Left ventricular hypertrophy, Pericardial effusion, Pericarditis, Lower limb hype... OMIM:619487
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Aortic root aneurysm, Umbilical hernia, Mitral valve prolapse, Carotid artery stenos... ORPHA:536532
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:601494
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Wildervanck Syndrome
Webbed neck, Low posterior hairline, Short neck, Meningocele, Facial palsy ORPHA:3456
Branchiootorenal Syndrome 1
Facial palsy, Branchial fistula, Branchial cyst OMIM:113650
Alg3-Cdg
Hypoplasia of the pons, Cardiomyopathy, Dandy-Walker malformation, Coarctation of the descending ... ORPHA:79321
Hemihyperplasia, Isolated
Myelomeningocele, Skeletal muscle hypertrophy OMIM:235000
Alg9-Cdg
Hypoplasia of the musculature, Cerebellar atrophy, Abnormal heart morphology, Oligohydramnios, Ve... ORPHA:79328
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion OMIM:618183
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Triploidy
Intrauterine growth retardation, Short neck, Hydrocephalus, Abnormal cardiac septum morphology, M... ORPHA:3376
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Hydrocephalus, Spina bifida, Gray ma... OMIM:207950
Myhre Syndrome
Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Short neck, Coarct... OMIM:139210
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Fliedner-Zweier Syndrome
Cerebellar atrophy, Ventricular septal defect, Bicuspid aortic valve, Meningocele, Hypoplastic ao... OMIM:620511
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Kaposiform Lymphangiomatosis
Epistaxis, Pleural effusion, Pericardial effusion, Subconjunctival hemorrhage, Epidural hemorrhage ORPHA:464329
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Abnormal aortic morphology, Short neck, Patent ductus arteriosus ORPHA:2001
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemot... ORPHA:99827
Poems Syndrome
Pericardial effusion, Pleural effusion, Edema, Ascites ORPHA:2905
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Abnormal heart morphology, Atrioventricu... ORPHA:508488
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Biventricular hypertrophy, Dextrotransp... ORPHA:860
Phaver Syndrome
Camptodactyly of finger, Myelomeningocele, Intrauterine growth retardation, Ventricular septal de... ORPHA:2876
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Thickened nuchal skin fold, Dextrocardia, Spina bi... ORPHA:2437
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Persistence of primary teeth, Ventricular septal defect, Atrial septal defect, ... OMIM:619769
Q Fever
Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi... ORPHA:781
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Hydrocephalus, Ectopia cord... OMIM:313850
Mosaic Trisomy 9
Webbed neck, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis... ORPHA:99776
Lateral Meningocele Syndrome
Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Chiari type I malformation, B... OMIM:130720
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragma... ORPHA:2311
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Kapur-Toriello Syndrome
Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Short neck, Pachygyria, Patent du... ORPHA:2328
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra... ORPHA:158057
Muscle-Eye-Brain Disease
Myopathy, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Intrauterine growth retardation, Abnormality of dental eruption, Spina b... ORPHA:1327
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Intellectual Developmental Disorder, Autosomal Dominant 72
Facial hypotonia, Short neck, Spina bifida OMIM:620439
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular sept... ORPHA:1393
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Coronary artery atherosclerosis, Bicuspid aortic valve, Carotid artery stenosi... OMIM:132900
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Encephalocele, Ventricular septal de... OMIM:614424
Hennekam Syndrome
Chylothorax, Delayed eruption of teeth, Lymphedema, Ascites, Camptodactyly of finger, Pericardial... ORPHA:2136
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration ORPHA:363558
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Cystic hygroma, Meningocele, Anencephaly OMIM:603194
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Congenital diaphragm... ORPHA:991
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Intrauterine growth retardation, Patent foramen ovale, Atrial septal... OMIM:620186
Spondylocostal Dysostosis 4, Autosomal Recessive
Broad neck, Myelomeningocele, Situs inversus totalis, Short neck, Hydrocephalus, Dextrocardia, Sh... OMIM:613686
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... OMIM:300967
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hypertrophic cardiomyopathy, Oligohydramnios, Limb hypertonia, Pericardial ef... OMIM:615846
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Aortic dissection, Arterial calcification, Medial calcification of large... ORPHA:51608
Noonan Syndrome 10
Webbed neck, Hypertrophic cardiomyopathy, Increased nuchal translucency, Mitral stenosis, Mitral ... OMIM:616564
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Con... ORPHA:2847
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema, Cerebellar atrophy ORPHA:167
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Acropectorovertebral Dysplasia
Spina bifida, Camptodactyly of finger ORPHA:957
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal aortic arch morphology, Po... ORPHA:2306
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra... OMIM:301220
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly... OMIM:164210
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, ST segment depression, Syn... ORPHA:358
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:614034
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration ORPHA:69665
Lateral Meningocele Syndrome
Chiari malformation, Umbilical hernia, Ventricular septal defect, Low posterior hairline, Short n... ORPHA:2789
Lymphangioleiomyomatosis
Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium ORPHA:538
Humero-Radial Synostosis
Meningocele ORPHA:3265
Scimitar Syndrome
Hypoplastic left heart, Descending aorta hypoplasia, Pulmonary artery hypoplasia, Abnormal hemidi... ORPHA:185
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy... ORPHA:91347
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... OMIM:600001
Aregenerative Anemia
Abnormal circulating interleukin concentration ORPHA:101096
Neu-Laxova Syndrome 1
Broad neck, Hydranencephaly, Joint contracture of the hand, Small placenta, Intrauterine growth r... OMIM:256520
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalocel... ORPHA:63259
Amish Lethal Microcephaly
Limb hypertonia, Spina bifida, Lissencephaly ORPHA:99742
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Atrial septal defect, Dextroca... OMIM:619702
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Panhypogammaglobulinemia, Abnormal circulating interleukin concentration, Abnormal circulating in... ORPHA:79124
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Diastasis recti, Encephalocele, Short umbilical cord... ORPHA:2369
Focal Dermal Hypoplasia
Umbilical hernia, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Vent... ORPHA:2092
Trisomy 18
Webbed neck, Growth delay, Camptodactyly of finger, Intrauterine growth retardation, Congenital d... ORPHA:3380
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal cortical gyra... ORPHA:2671
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Neurocutaneous Melanocytosis
Meningocele, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Dandy-Walker malformation ORPHA:2481
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Coarctation of aorta, Spina bifida, Torticollis, Unilateral facial... OMIM:619480
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Occipital meningocele, Congenital diaphragmatic hernia, Short neck,... OMIM:616546
Fountain Syndrome
Short stature, Spina bifida occulta, Spina bifida ORPHA:3219
Pelvis-Shoulder Dysplasia
Hydranencephaly, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Neonatal short-tr... ORPHA:2839
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Abnormal descending aorta morphology, Te... ORPHA:99050
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth r... OMIM:192350
Chromosome 17P13.1 Deletion Syndrome
Webbed neck, Broad neck, Umbilical hernia, Elbow flexion contracture, Knee flexion contracture, S... OMIM:613776
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil... ORPHA:2255
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular sep... OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Truncus arteriosus... ORPHA:508498
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Short neck, Spina bifida, Lissencephaly OMIM:616038
Isolated Posterior Meningocele
Hydromyelia, Chiari malformation, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele,... ORPHA:268810
Branchiooculofacial Syndrome
Elbow flexion contracture, Postnatal growth retardation, Intrauterine growth retardation, Branchi... OMIM:113620
Truncus Arteriosus
Interrupted aortic arch, Pulmonary artery hypoplasia, Abnormal heart morphology, Tetralogy of Fal... ORPHA:3384
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Jacobsen Syndrome
Aortic valve stenosis, Webbed neck, Hypoplastic left heart, Pachygyria, Intrauterine growth retar... ORPHA:2308
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Polymicrogyria, Periventricular nodular heterotopia, Coarctation of aorta... OMIM:277170
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... ORPHA:84
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Congenital diaphragmatic hernia, Short statur... OMIM:613406
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Abnormal circulating interleukin concentration, Decreased specif... ORPHA:3261
Tafro Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:457077
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery stenosis, Pul... ORPHA:3427
Laubry-Pezzi Syndrome
Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le... ORPHA:99094
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retar... ORPHA:567
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Occipital encephalocele, Abnor... ORPHA:397715
Trisomy 20P
Camptodactyly of finger, Umbilical hernia, Low posterior hairline, Short neck, Spina bifida ORPHA:261318
Acromelic Frontonasal Dysplasia
Meningocele, Retrocerebellar cyst, Encephalocele ORPHA:1827
Nail-Patella Syndrome
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Spina bi... OMIM:161200
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Oligohydramnios, Co... OMIM:614437
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Femoral-Facial Syndrome
Camptodactyly of finger, Encephalocele, Truncus arteriosus, Ventricular septal defect, Coarctatio... OMIM:134780
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Postnatal growth retardation, Aortic isthmus hypoplasia, Mitral valve pro... OMIM:180849
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Chiari... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Chiari... ORPHA:363958
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida ORPHA:2874
Marfan Syndrome
Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Skeletal muscle atrophy, Mi... ORPHA:558
Knobloch Syndrome 1
Occipital encephalocele, Polymicrogyria, Spina bifida occulta, Occipital meningocele, Patent duct... OMIM:267750
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Abnormal tendon morphology, Aort... ORPHA:391665
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Stiff neck, Abnormal cerebellum morph... ORPHA:68
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Castleman Disease
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:160
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria OMIM:601707
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Disproportionate short stature, Short neck ORPHA:2879
Neurofibromatosis, Type I
Renal artery stenosis, Spina bifida, Hydrocephalus, Short stature, Aqueductal stenosis, Rhabdomyo... OMIM:162200
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Abnormal circulating interferon concentration, Incr... ORPHA:544482
Pmm2-Cdg
Cerebellar vermis hypoplasia, Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint c... ORPHA:79318
Shwachman-Diamond Syndrome 1
Short stature, Myocardial necrosis OMIM:260400
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, Proportionate short stature OMIM:234100
Aicardi Syndrome
Polymicrogyria, Postnatal growth retardation, Spina bifida, Pachygyria, Gray matter heterotopia OMIM:304050
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Otopalatodigital Syndrome, Type Ii
Stillbirth, Umbilical hernia, Elbow contracture, Postnatal growth retardation, Short neck, Spina ... OMIM:304120
Semilobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Flexion contracture, Growth delay, Neura... ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Flexion contracture, Growth delay, Neura... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Flexion contracture, Growth delay, Neura... ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Flexion contracture, Growth delay, Neura... ORPHA:93924
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:301074
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Flexion contracture of finger ORPHA:1010
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Growth delay OMIM:243910
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Short neck, Hydrocephalus, Short stature, H... OMIM:610829
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration ORPHA:391487
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Broad neck, Disproportionate short stature, Elbow flexion contracture, Short neck, Occipital meni... OMIM:276820

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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