banner
Genes Phenotypes Help, News, Blog

Gene: Rbl1 MGI:103300

Log in to follow

Gene Summary

Name:
RB transcriptional corepressor like 1
Synonyms:
retinoblastoma-like 1 (p107),  p107

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
improved glucose tolerance Rbl1tm1b(EUCOMM)Hmgu HET   Early adult 7.99×10-05
shortened QRS complex duration Rbl1tm1b(EUCOMM)Hmgu HET Early adult 2.31×10-05
preweaning lethality, incomplete penetrance Rbl1tm1b(EUCOMM)Hmgu HOM   Early adult 0.0166
abnormal kidney morphology Rbl1tm1b(EUCOMM)Hmgu HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

28 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Human diseases caused by Rbl1 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 Rbl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Short stature, Abnormality o... ORPHA:229717
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Chronic otitis media,... ORPHA:33355
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, ... ORPHA:2584
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... ORPHA:542592
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Weight loss... ORPHA:507
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Progressive loss of facial adipose tissue, ... OMIM:608709
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... ORPHA:45452
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Recurrent skin infections, Splenomegaly, L... OMIM:612840
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Abnormality of the tonsils, Oste... ORPHA:47
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Generalized lipod... OMIM:612526
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Lipoatrophy, Pancreatitis, Hepatic steatosis ORPHA:79084
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Cachexia, Portal hypertensio... ORPHA:824
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Cystic acne, Art... OMIM:604416
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy ORPHA:79087
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Hepatic steatosis OMIM:613877
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... ORPHA:90280
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Re... OMIM:150550
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Glucose intolerance, Hyp... OMIM:610947
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,... ORPHA:86884
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, T lymphocytopenia,... ORPHA:217390
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Subcutaneous nodule, Skin ulcer, Arthritis ORPHA:231
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Carnosinuria OMIM:309930
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Pancreatitis, Loss of ... ORPHA:435651
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Ollier Disease
Lymphangioma, Subcutaneous nodule, Skin ulcer, Anemia ORPHA:296
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Hepatic steatosis OMIM:615238
Takayasu Arteritis
Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Weight loss, Arthritis, Inflamm... ORPHA:3287
Prolidase Deficiency
Hepatomegaly, Petechiae, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermati... OMIM:170100
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Erythema, Skin ulcer ORPHA:2337
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Lipodystrophy, Hepatic steatosis, Hepatomegaly ORPHA:79085
Nathalie Syndrome
Abnormal EKG OMIM:255990
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Rheumatoid ar... ORPHA:48104
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut... ORPHA:435660
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,... ORPHA:69126
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer ORPHA:31112
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Acral ulceration OMIM:614213
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy ORPHA:300536
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:2028
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Chronic Granulomatous Disease
Macule, Hepatomegaly, Liver abscess, Sinusitis, Hypermelanotic macule, Abnormality of neutrophils... ORPHA:379
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Acrogeria
Aplasia/Hypoplasia of the skin, Short stature, Skin ulcer, Excessive wrinkled skin, Thin skin ORPHA:2500
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, General... ORPHA:363400
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy OMIM:615980
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... ORPHA:79303
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Lipody... OMIM:615381
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Free Sialic Acid Storage Disease
Splenomegaly, Failure to thrive in infancy, Skin ulcer, Hepatomegaly ORPHA:834
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis ORPHA:210548
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Arthritis, ... ORPHA:91138
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Fusariosis
Fasciitis, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Keratitis, Abn... ORPHA:228119
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Pyod... ORPHA:486
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Lipodystrophy, Splenomeg... ORPHA:2348
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Weight loss ORPHA:312
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa, Anemia OMIM:608068
Polyarteritis Nodosa
Pericarditis, Erythema, Subcutaneous nodule, Skin ulcer, Weight loss ORPHA:767
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Papule ORPHA:525
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Acquired Purpura Fulminans
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura, Thrombocytopenia ORPHA:49566
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Scaling skin, Granulo... ORPHA:454831
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Prolidase Deficiency
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Erythema, Crusting erythematous derma... ORPHA:742
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocyt... OMIM:615688
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eosinophilia, Eczema, Skin ulcer, Skin vesicle, Chronic otitis media, P... ORPHA:2314
Buerger Disease
Skin ulcer ORPHA:36258
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer OMIM:604571
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Splenomegaly, Pancreatit... ORPHA:79083
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Flynn-Aird Syndrome
Cachexia, Dermal atrophy, Skin ulcer ORPHA:2047
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Increased muscle lipid content, Hepatomegaly OMIM:610717
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E... ORPHA:727
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Acrodermatitis Enteropathica
Short stature, Pustule, Erythema, Cheilitis, Dry skin, Skin ulcer, Weight loss, Conjunctivitis, F... ORPHA:37
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Congenital Generalized Lipodystrophy
Hepatomegaly, Lipodystrophy, Adipose tissue loss, Cirrhosis, Hepatic steatosis ORPHA:528
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Brooke-Spiegler Syndrome
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids ORPHA:79493
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer ORPHA:220402
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Cardiomyopathy ORPHA:1177
Dyskeratosis Congenita
Macule, Hepatomegaly, Neoplasm of the pancreas, Aplasia/Hypoplasia of the skin, Short stature, Hy... ORPHA:1775
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... OMIM:259720
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Dermatoosteolysis, Kirghizian Type
Keratitis, Osteoarthritis, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Reynolds Syndrome
Hepatomegaly, Skin rash, Jaundice, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, ... ORPHA:779
Familial Multiple Nevi Flammei
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule ORPHA:624
Catastrophic Antiphospholipid Syndrome
Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ... ORPHA:464343
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly OMIM:259730
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Weight loss, Granulomatosis, Conjunctivi... OMIM:608710
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly OMIM:619273
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Generalized lipodystrophy, Panniculitis, Cirrhosis, Hepatic ste... ORPHA:79086
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Skin ulcer ORPHA:2218
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Infantile Systemic Hyalinosis
Severe short stature, Subcutaneous nodule, Skin ulcer, Growth delay, Failure to thrive, Aplasia/H... ORPHA:2176
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema, Erythema ... ORPHA:90340
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... ORPHA:263297
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424019
Toxic Epidermal Necrolysis
Macule, Erythema, Skin ulcer, Weight loss, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thr... ORPHA:537
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis OMIM:615918
Peripartum Cardiomyopathy
Tachycardia, Diabetes mellitus, Right ventricular failure, Congestive heart failure, Myocarditis,... ORPHA:563
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:619048
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Scarring, Hepatocellular carcinoma, Portal inflam... ORPHA:101330
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Distal arthrogryposis, Decreased liver function, Hep... ORPHA:42
Chronic Mucocutaneous Candidiasis
Skin rash, Erythema, Hepatitis, Skin ulcer, Cheilitis, Papule ORPHA:1334
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration OMIM:613115
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Infantile Myofibromatosis
Neoplasm of the pancreas, Subcutaneous nodule, Skin ulcer ORPHA:2591
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Skin ulcer, Periodontitis OMIM:116920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, ... ORPHA:2072
Werner Syndrome
Aplasia/Hypoplasia of the skin, Short stature, Lack of skin elasticity, Skin ulcer, Slender build ORPHA:902
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Prostatitis, Skin ulcer, Wei... ORPHA:900
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:608594
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Incontinentia Pigmenti
Short stature, Eosinophilia, Skin rash, Keratitis, Erythema, Hypopigmented skin patches, Skin ulc... ORPHA:464
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... ORPHA:556
Giant Cell Arteritis
Pericarditis, Mediastinal lymphadenopathy, Skin ulcer, Weight loss, Arthritis ORPHA:397
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, He... OMIM:613327
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Acral ulceration OMIM:162400
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:619386
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Dermatomyositis
Pericarditis, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Myocarditis, Erythe... ORPHA:221
Hemochromatosis, Type 4
Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:606069
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Erythema, Skin ulcer, Weight loss, Arthritis, Dry skin ORPHA:93672
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Intermittent generalized erythe... OMIM:186580
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Familial Keratoacanthoma
Papule, Subcutaneous nodule, Skin ulcer ORPHA:493
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Short stature, Skin ulcer ORPHA:1806
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Knee flexion contracture, Hepatosplenomegaly, Hepati... ORPHA:79322
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Skin fissure ORPHA:659
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... ORPHA:2968
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Hereditary Acrokeratotic Poikiloderma
Short stature, Eczema, Pustule, Erythema, Hypopigmented skin patches, Skin ulcer, Keratoconjuncti... ORPHA:2907
Immunoglobulin A Vasculitis
Macule, Episcleritis, Skin rash, Pustule, Orchitis, Erythema, Skin ulcer, Arthritis, Infectious e... ORPHA:761
Cushing Disease
Acne, Leukocytosis, Increased body weight, Skin ulcer, Recurrent cutaneous fungal infections, Tru... ORPHA:96253
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Plague
Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Localized skin lesion, Lymp... ORPHA:707
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Pustule, Subcutaneous nodule, Skin ulcer, Infectious encephalitis, Increase... ORPHA:68
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... OMIM:618805
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Increased he... OMIM:261680
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Localized skin lesion, W... ORPHA:91139
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Extramedullary hematopoiesis ORPHA:2886
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Hepatic steatosis, Pancreatitis OMIM:236200
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamin... ORPHA:230
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Hajdu-Cheney Syndrome
Hepatomegaly, Failure to thrive, Short stature, Splenomegaly, Skin ulcer, Periodontitis, Delayed ... ORPHA:955
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Lack of fac... ORPHA:2959
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Skin ulcer ORPHA:220393
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Subcutaneous nodule, Skin ulcer, Panniculitis, Scaling skin, Leukemia, Dry ... ORPHA:2526
Leprosy
Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Skin nodule, Verrucous papule... ORPHA:548
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Calciphylaxis
Skin ulcer ORPHA:280062
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Cutaneous sclerotic p... ORPHA:90291
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Renal cyst, Hyperinsul... ORPHA:552
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Oculocerebrorenal Syndrome Of Lowe
Short stature, Thrombocytopenia, Cheilitis, Skin ulcer, Atypical scarring of skin, Arthritis, Per... ORPHA:534
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... OMIM:614582
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Flexi... OMIM:212065
Immunodeficiency 55
Absent natural killer cells, Short stature, Recurrent skin infections, Eczema, Postnatal growth r... OMIM:617827
Neuropathy, Hereditary Sensory And Autonomic, Type V
Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration OMIM:608654
Adult Syndrome
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly OMIM:619013
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Stillbirth, Decreased liver function, Neonatal death, Hepatic steatosis OMIM:614922
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Increas... ORPHA:99889
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hepatic steatosis ORPHA:254346
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Urinary bladder inflammation, Erythema, Intermittent generalized erythem... ORPHA:99921
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure OMIM:229300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hepatic steatosis, Dorsocervical fat pad ORPHA:189427
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricular outflow... ORPHA:860
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Parkes Weber Syndrome
Skin ulcer, Abnormal lymphatic vessel morphology, Erythematous plaque, Capillary malformation, Sc... ORPHA:90307
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Skin ulc... ORPHA:95455
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Hepat... ORPHA:264580
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... OMIM:614300
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:610198
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... ORPHA:231625
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Acral ulceration OMIM:256840
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis OMIM:616271
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Chime Syndrome
Erythema, Skin ulcer, Acute leukemia ORPHA:3474
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Jaw claudication, Ne... ORPHA:85443
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis ORPHA:298
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ketonuria, Hypoglycemia, Hypoglycemic seizures, Arrhythmia ORPHA:480864
Atypical Werner Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Short stature, Lack of skin elasticity, Skin u... ORPHA:79474
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis ORPHA:228305
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Hepatomegaly, Flexion contracture, Macrovesicular hepatic steatosis OMIM:617303
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Osteomyelitis, Acral ulceration OMIM:256800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Hepatic steatos... OMIM:616263
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... OMIM:619487
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ... ORPHA:247585
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis ORPHA:71
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:212138
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424016
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... OMIM:619418
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hepatic steatosis OMIM:203800
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Increased intramyocellular lipi... ORPHA:17
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Increased intramyocellular l... ORPHA:98907
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase ORPHA:71212
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:348
Dextrocardia
Abnormal EKG, T-wave inversion, Abnormality of the ureter ORPHA:1666
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Macr... OMIM:619127
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Portal hypertension, Cholestasis, Bile duct proli... OMIM:613658
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Pollakisuria, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Nodular regenerative hyperpl... ORPHA:404454
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... ORPHA:466677
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... OMIM:619377
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Microvesicular hepatic steatosis, Flexion contracture, Elbow flexi... OMIM:300868
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Biliary hyperplasia, Intrahepatic c... OMIM:619991
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... ORPHA:90068
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... OMIM:124000
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele... ORPHA:2088
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi... OMIM:617253
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis ORPHA:746
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis ORPHA:412
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis ORPHA:14
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... ORPHA:20
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis ORPHA:66634
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... ORPHA:98908
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:615356
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... OMIM:220110
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis... OMIM:617156
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Ogden Syndrome
Inguinal hernia, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Mi... OMIM:300855
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr... ORPHA:699
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Hepatic steatosis OMIM:619321
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hepatocellular adenoma, Hepatocellular carcinoma, Increased hepatic glycogen conten... ORPHA:79259
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619573
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Portal hypertension, Flexi... OMIM:619503
Familial Chylomicronemia Syndrome
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepatic steatosis ORPHA:444490
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Hepatic s... ORPHA:247598
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Camptodactyly of finger, Increased subcutaneous... ORPHA:3455
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Friedreich Ataxia 2
Diabetic ketoacidosis, Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyop... OMIM:601992
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Biliary cirrhosis, Atypical scarring of skin, Cholestatic liver di... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Atypical scarring of skin, Cholestatic liver di... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Biliary cirrhosis, Atypical scarring of skin, Cholestatic liver di... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Biliary cirrhosis, Atypical scarring of skin, Cholestatic liver di... ORPHA:99226
Aicardi-Goutieres Syndrome 7
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatitis OMIM:615846
Bloom Syndrome
Hepatic steatosis OMIM:210900
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Oliguria, ST segment depression, Hypotension, Abnormal ... ORPHA:466650
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Jaundice, Hepatic steatosis OMIM:619475
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Hepatic steatosis OMIM:229600
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the spleen, Abnormality of the liver, Annular pancreas, H... ORPHA:1606
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Cirrhosis, Hepatic steatosis OMIM:270400
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Femoral hernia, Splenomegaly, Umbilical hernia, Cholelithiasis OMIM:188400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Woodhouse-Sakati Syndrome
Abnormal T-wave, Micropenis, Diabetes mellitus OMIM:241080
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Inguinal hernia, Increased hepatocellular lipid droplets OMIM:220111
Split Cord Malformation
Skin dimple, Penetrating foot ulcers ORPHA:573278
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Woodhouse-Sakati Syndrome
Insulin-resistant diabetes mellitus, Micropenis, Hyperinsulinemia, Abnormal T-wave ORPHA:3464
Aromatase Deficiency
Hepatic steatosis ORPHA:91
African Trypanosomiasis
Abnormal EKG, Renal insufficiency, Pericarditis, Urinary incontinence, Myocarditis, Congestive he... ORPHA:3385
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Dorsocervical fat pad, Portal hypertension, Splenome... ORPHA:64
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665

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 Rbl1

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 Rbl1.

No publications found that use IMPC mice or data for Rbl1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rbl1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rbl1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rbl1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rbl1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter