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Gene: Rbl1 MGI:103300

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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
abnormal kidney morphology Rbl1tm1b(EUCOMM)Hmgu HET Early adult 0.00
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
improved glucose tolerance Rbl1tm1b(EUCOMM)Hmgu HET   Early adult 7.99×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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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
Pneumonia, Failure to thrive, Skin ulcer, Abnormal lymphocyte morphology, Otitis media, Skin rash... ORPHA:229717
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Reticular Dysgenesis
Failure to thrive, Skin ulcer, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Weight lo... ORPHA:33355
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Classic Mycosis Fungoides
Erythema, Hypopigmented skin patches, Skin ulcer, Eczematoid dermatitis, Dry skin, Abnormal lymph... ORPHA:2584
Leishmaniasis
Skin ulcer, Pancytopenia, Leukopenia, Pallor, Abnormal macrophage morphology, Splenomegaly, Skin ... ORPHA:507
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Necrobiosis Lipoidica
Erythema, Abnormality of neutrophil physiology, Indurated nodule, Inflammatory abnormality of the... ORPHA:542592
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipose tissue, Loss of s... OMIM:608709
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss of gluteal subcuta... ORPHA:280356
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
X-Linked Agammaglobulinemia
Recurrent pneumonia, Failure to thrive, Hypopigmented skin patches, Skin ulcer, Hepatitis, Osteom... ORPHA:47
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hepatic steat... OMIM:612526
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Lipoatrophy, Hepatic steatosis ORPHA:79084
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Pyoderma gangreno... OMIM:604416
Acquired Partial Lipodystrophy
Lipoatrophy, Hepatic steatosis ORPHA:79087
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Hepatic steatosis OMIM:613877
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Skin ulcer, Lymphopenia, Postnatal growth retardation, Splenomegaly, Megalobla... OMIM:620603
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Chroni... ORPHA:90280
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Beta-Thalassemia
Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... ORPHA:848
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Hypertension, Sudden cardiac death, Myocardial in... OMIM:610947
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Chronic... OMIM:150550
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Skin ulcer, Hemophagocytosis, Hepatosplenomegaly, Erythematous plaque, Weigh... ORPHA:86884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess OMIM:619986
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusitis, B lymphocytopenia, Chronic otitis ... ORPHA:217390
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Dracunculiasis
Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Recurrent cutaneous abscess formation ORPHA:231
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Petechia... OMIM:170100
Muscular Dystrophy, Cardiac Type
Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Dominant Beta-Thalassemia
Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o... ORPHA:231226
Ollier Disease
Anemia, Subcutaneous nodule, Lymphangioma, Skin ulcer ORPHA:296
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Hepatic steatosis OMIM:615238
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Papule, Skin ulcer ORPHA:2337
Nathalie Syndrome
Abnormal EKG OMIM:255990
Takayasu Arteritis
Skin ulcer, Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Ar... ORPHA:3287
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Increased intraabdominal fat, Lipodystrophy, Hepatic steatosis ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Pancreatitis, Loss... ORPHA:435651
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... OMIM:616576
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Myositis, ... ORPHA:48104
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosple... ORPHA:231222
Papa Syndrome
Skin ulcer, Crohn's disease, Increased inflammatory response, Myositis, Pustule, Lymphadenopathy,... ORPHA:69126
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Increased intraabdominal fat, Hepatic steatosis, Loss o... ORPHA:435660
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c... ORPHA:231214
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:31112
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:300536
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Acral ulceration OMIM:614213
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tiss... OMIM:604367
Chronic Granulomatous Disease
Skin ulcer, Eczematoid dermatitis, Splenomegaly, Otitis media, Hepatomegaly, Macule, Sinusitis, I... ORPHA:379
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer ORPHA:2028
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Hepatic steatosis, Reduced subcutaneous adipose tissue, Cirrhosis, Hep... ORPHA:363400
Acrogeria
Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Short stature, Thin skin ORPHA:2500
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis OMIM:615980
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Failure to thrive, Extramedullary hematopoiesis, Cholestasis, Postnatal gro... ORPHA:79303
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lipodystrophy, Elevat... OMIM:615381
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis ORPHA:210548
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Hepatomegaly, Skin ulcer, Splenomegaly ORPHA:834
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... OMIM:259710
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Skin ulcer, Postnatal growth retardation, Abnormal erythrocyte mo... ORPHA:288
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Cryoglobulinemic Vasculitis
Mediastinal lymphadenopathy, Skin ulcer, Abnormality of the liver, Petechiae, Splenomegaly, Kerat... ORPHA:91138
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling skin... ORPHA:499009
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Fusariosis
Pneumonia, Keratitis, Skin ulcer, Fasciitis, Abnormality of the spleen, Lymphopenia, Osteomyeliti... ORPHA:228119
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:409
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ... ORPHA:486
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma, Skin ulcer ORPHA:312
Sweet Syndrome
Inflammation of the large intestine, Erythematous papule, Acne inversa, Predominantly dermal neut... ORPHA:3243
Lichen Planopilaris
Hepatitis, Skin ulcer, Hypopigmented skin patches, Dermal atrophy, Papule ORPHA:525
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Loss of subcutaneous ad... ORPHA:2348
Polyarteritis Nodosa
Erythema, Skin ulcer, Weight loss, Subcutaneous nodule, Pericarditis ORPHA:767
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Acquired Purpura Fulminans
Macular purpura, Skin rash, Macule, Thrombocytopenia, Pyoderma gangrenosum, Erythematous macule ORPHA:49566
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula... OMIM:151660
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Neutrophilic Dermatosis, Acute Febrile
Erythema, Acne inversa, Panniculitis, Pyoderma gangrenosum, Anemia, Cystic acne OMIM:608068
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Lymphopenia, Dermal atrophy, Interstitial pneum... ORPHA:454831
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Prolidase Deficiency
Erythema, Skin ulcer, Dry skin, Splenomegaly, Crusting erythematous dermatitis, Aplasia/Hypoplasi... ORPHA:742
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythem... OMIM:615688
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin ORPHA:743
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin ulcer, Eczematoid dermatitis, Osteomyelitis, Skin rash, Skin vesicle, Eosinophilia, Papule, ... ORPHA:2314
Livedoid Vasculopathy
Erythematous papule, Polycythemia, Skin ulcer, Macular purpura, Atrophic scars, Pancytopenia, Leu... ORPHA:542643
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Pparg-Related Familial Partial Lipodystrophy
Loss of facial adipose tissue, Hepatic steatosis, Splenomegaly, Cirrhosis, Pancreatitis, Loss of ... ORPHA:79083
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Microscopic Polyangiitis
Erythema, Uveitis, Skin ulcer, Episcleritis, Skin rash, Increased inflammatory response, Peritoni... ORPHA:727
Flynn-Aird Syndrome
Dermal atrophy, Cachexia, Skin ulcer ORPHA:2047
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Failure to thrive, Dry skin, Pustule, Weight loss, Short stature, Conjuncti... ORPHA:37
Meige Disease
Atypical scarring of skin, Skin erosion, Skin ulcer, Absence of lymph node germinal center, Lymph... ORPHA:90186
Mhc Class I Deficiency 1
Chronic otitis media, Bronchiectasis, Skin ulcer, Chronic sinusitis OMIM:604571
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Congenital Generalized Lipodystrophy
Hepatic steatosis, Adipose tissue loss, Cirrhosis, Lipodystrophy, Hepatomegaly ORPHA:528
Dyskeratosis Congenita
Bone marrow hypocellularity, Periodontitis, Hypopigmented skin patches, Skin ulcer, Intrauterine ... ORPHA:1775
Brooke-Spiegler Syndrome
Skin nodule, Skin-colored papule, Skin ulcer, Nodular changes affecting the eyelids ORPHA:79493
Buerger Disease
Skin ulcer ORPHA:36258
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Hypopigmented skin patches ORPHA:220402
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function OMIM:616829
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Skin ulcer, Neutropenia OMIM:620443
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Osteopetrosis, Autosomal Recessive 5
Growth delay, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splen... OMIM:259720
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Keratitis, Skin ulcer, Osteoarthritis ORPHA:1657
Reynolds Syndrome
Skin ulcer, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Cirrhosis, Arthritis,... ORPHA:779
Catastrophic Antiphospholipid Syndrome
Skin ulcer, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Arthritis, Throm... ORPHA:464343
Familial Multiple Nevi Flammei
Papule, Skin ulcer, Hypermelanotic macule, Nevus flammeus ORPHA:624
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Short stature, Extramedullary hematopoiesis OMIM:259730
Granulomatosis With Polyangiitis
Keratitis, Skin ulcer, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chro... OMIM:608710
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin... ORPHA:280365
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Skin ulcer ORPHA:2218
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Weight loss, Pancreatitis, Macule, Thrombocytopenia, Neutropenia, Anemia, C... ORPHA:537
Acquired Generalized Lipodystrophy
Generalized lipodystrophy, Hepatic steatosis, Cirrhosis, Hepatomegaly, Panniculitis, Acute pancre... ORPHA:79086
Infantile Systemic Hyalinosis
Severe short stature, Skin ulcer, Failure to thrive, Aplasia/Hypoplasia of the thymus, Subcutaneo... ORPHA:2176
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Dry skin, Decreased proportion of CD4-positive helper T cells, Lichenoid ... ORPHA:289390
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis OMIM:619273
Blau Syndrome
Posterior uveitis, Erythema, Keratitis, Skin ulcer, Dry skin, Abnormality of the liver, Splenomeg... ORPHA:90340
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424019
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Neonatal death OMIM:615918
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Chronic Mucocutaneous Candidiasis
Erythema, Papule, Hepatitis, Skin ulcer, Skin rash, Cheilitis ORPHA:1334
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration OMIM:613115
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Wild Type Attr Amyloidosis
Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Infantile Myofibromatosis
Subcutaneous nodule, Skin ulcer, Neoplasm of the pancreas ORPHA:2591
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Skin ulcer, Osteomyelitis, Leukocytosis OMIM:116920
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Werner Syndrome
Skin ulcer, Slender build, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Short stature ORPHA:902
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Granulomatosis With Polyangiitis
Skin ulcer, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Weight loss, P... ORPHA:900
Malakoplakia
Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash, Follic... ORPHA:556
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Skin ulcer, Abnormality of the spleen, ... ORPHA:2072
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Reduced subcutaneous a... OMIM:608594
Incontinentia Pigmenti
Erythema, Keratitis, Skin ulcer, Hypopigmented skin patches, Skin rash, Infectious encephalitis, ... ORPHA:464
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Giant Cell Arteritis
Skin ulcer, Weight loss, Arthritis, Mediastinal lymphadenopathy, Pericarditis ORPHA:397
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Lipodys... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Osteomyelitis, Foot osteomyelitis, Acral ulceration OMIM:162400
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Elevated circulating... OMIM:619386
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Skin ulcer, V-sign, Heliotrope rash, Dry skin, Skin ras... ORPHA:221
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Juvenile Dermatomyositis
Erythema, Skin ulcer, Dry skin, Skin rash, Myositis, Weight loss, Arthritis, Pericarditis ORPHA:93672
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Synovitis, Intermittent gen... OMIM:186580
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Skin ulcer ORPHA:493
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Reduced subcutaneous a... OMIM:269700
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Keratoconjunctivitis sicca, Skin ulcer ORPHA:1806
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail... OMIM:256810
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Macule... ORPHA:761
Hereditary Acrokeratotic Poikiloderma
Erythema, Skin ulcer, Hypopigmented skin patches, Eczematoid dermatitis, Pustule, Keratoconjuncti... ORPHA:2907
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Skin fissure ORPHA:659
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Cushing Disease
Acne, Skin ulcer, Lymphopenia, Striae distensae, Leukocytosis, Ecchymosis, Increased body weight,... ORPHA:96253
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Plague
Localized skin lesion, Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped li... ORPHA:707
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Elevated circulatin... OMIM:261680
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Extramedullary hematopoiesis ORPHA:2886
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Skin ulcer, Infectious encephalitis, Pustule, Sinusiti... ORPHA:68
Simple Cryoglobulinemia
Localized skin lesion, Nephritis, Viral hepatitis, Acral ulceration, Chronic lymphatic leukemia, ... ORPHA:91139
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Hajdu-Cheney Syndrome
Periodontitis, Skin ulcer, Failure to thrive, Dry skin, Splenomegaly, Hepatomegaly, Delayed puber... ORPHA:955
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Abnormal ... ORPHA:230
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis, Inguinal hernia OMIM:236200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Arthritis ORPHA:220393
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Multiple joint contra... ORPHA:2959
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Leprosy
Uveitis, Penetrating foot ulcers, Hypopigmented macule, Abnormality of the spleen, Urticarial pla... ORPHA:548
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Skin ulcer, Erysipelas, Dry skin, Scaling skin, Leukemia, Subcutaneous nodu... ORPHA:2526
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Carnitine Deficiency, Systemic Primary
Elevated circulating aspartate aminotransferase concentration, Decreased carnitine level in liver... OMIM:212140
Systemic Sclerosis
Digital ulcer, Osteomyelitis, Acral ulceration, Spotty hypopigmentation, Glomerulonephritis, Arth... ORPHA:90291
Mody
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance,... ORPHA:552
Calciphylaxis
Skin ulcer ORPHA:280062
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Abn... OMIM:212065
Chronic Graft Versus Host Disease
Erythema, Skin ulcer, Urinary bladder inflammation, Fasciitis, Pancytopenia, Skin vesicle, Weight... ORPHA:99921
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Periodontitis, Skin ulcer, Failure to thrive, Delayed puberty, Thrombo... ORPHA:534
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Intrauterine growth retardation,... OMIM:617827
Adult Syndrome
Dry skin, Melanocytic nevus, Skin ulcer, Thin skin ORPHA:978
Neuropathy, Hereditary Sensory And Autonomic, Type V
Septic arthritis, Osteomyelitis, Acral ulceration, Osteoarthritis OMIM:608654
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:619013
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hepatic steatosis ORPHA:254346
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Skin ulcer, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Striae ... ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Neonatal death, Stillbirth, Hepatomegaly OMIM:614922
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen... ORPHA:90065
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Diabetes mellitus, Congestive heart failure OMIM:229300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Hepatic steatosis ORPHA:189427
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Elbow flexion contracture, Elevated circ... OMIM:608836
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Parkes Weber Syndrome
Skin ulcer, Capillary malformation, Erythematous plaque, Abnormal lymphatic vessel morphology, Sc... ORPHA:90307
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... OMIM:615486
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:615595
Gitelman Syndrome
Type II diabetes mellitus, Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nep... ORPHA:358
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Atypical scarring of skin, Inflammatory abnormality of the skin, Keratitis, Skin ulcer... ORPHA:95455
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin... ORPHA:2137
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cholestasis, Portal fibrosis, Elevated circulating alanine aminotransferase concentration, Hepati... OMIM:614300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice OMIM:231680
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:610198
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele... OMIM:614921
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:605911
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis OMIM:616271
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H... ORPHA:231625
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:201450
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Acral ulceration OMIM:256840
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Chime Syndrome
Erythema, Acute leukemia, Skin ulcer ORPHA:3474
Mitochondrial Neurogastrointestinal Encephalomyopathy
Macrovesicular hepatic steatosis, Cirrhosis, Elevated circulating hepatic transaminase concentration ORPHA:298
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Ketonuria, Hypoglycemia, Abnormal EKG, Arrhythmia, Prolonged QT interval ORPHA:480864
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated circulating aspart... OMIM:617093
Atypical Werner Syndrome
Skin ulcer, Failure to thrive, Hepatic steatosis, Decreased body weight, Lack of skin elasticity,... ORPHA:79474
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic s... ORPHA:228305
Insensitivity To Pain, Congenital, With Anhidrosis
Osteomyelitis, Keratitis, Acral ulceration OMIM:256800
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Achi... OMIM:616263
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Flexion contracture, Macrovesicular hepatic steatosis, Splenomegaly OMIM:617303
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan... ORPHA:247585
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Increased hepatocellu... ORPHA:71
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Po... OMIM:619487
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:212138
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Wilson Disease
Hepatic failure, Chondrocalcinosis, Portal fibrosis, Acute hepatic failure, Elevated circulating ... OMIM:277900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi... ORPHA:98907
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Increased intramyocel... ORPHA:17
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:99901
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ... OMIM:611126
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:445038
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic necrosis, Hepatic steatosis, Elevated circulating hepatic transami... ORPHA:71212
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Cholestasis, P... OMIM:613658
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Elevated circulating aspartate aminotransferase concen... OMIM:605814
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:348
Dextrocardia
Abnormality of the ureter, T-wave inversion, Abnormal EKG ORPHA:1666
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Hepatomegaly,... OMIM:619127
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424016
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated... OMIM:619525
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Pollakisuria, Right bundle branch block, Abnormal EKG ORPHA:268
Scorpion Envenomation
Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Prominent U wave, Congestive heart... ORPHA:466677
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... OMIM:614924
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Microvesicular hepatic stea... OMIM:300868
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis ORPHA:436271
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Cocaine Intoxication
Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ... ORPHA:90068
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification ORPHA:228308
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Combined Oxidative Phosphorylation Deficiency 37
Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d... OMIM:618329
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... OMIM:124000
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... ORPHA:98908
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... OMIM:617253
Fanconi-Bickel Syndrome
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... ORPHA:2088
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Chronic hepatic failure, Diffuse hepatic steatosis ORPHA:746
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis ORPHA:412
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Lipid accumulation in hepatocytes, Hepat... ORPHA:20
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cir... ORPHA:14
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:615356
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis ORPHA:66634
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased intramyocellular lipid droplets, Decreased liver function, Increased hepa... OMIM:220110
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Ogden Syndrome
Umbilical hernia, Inguinal hernia, Microvesicular hepatic steatosis, Jaundice, Minimal subcutaneo... OMIM:300855
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Microvesic... OMIM:617156
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... ORPHA:699
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Increased hepatic glycogen content, Pancreatitis, Hepatomegaly, Hepatocellular... ORPHA:79259
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Hepatic steatosis OMIM:619321
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Jaundice, Acute pancreatitis ORPHA:444490
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Elbow flexion contracture, Cholestasis, Hepatosplenomegaly, Portal hypertension, Inguinal hernia,... OMIM:619503
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Camptodactyly of finger, Loss of facial adipose ti... ORPHA:3455
Alstrom Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Chronic... OMIM:203800
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99226
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:247598
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hepatitis, Hepatic steatosis OMIM:615846
Friedreich Ataxia 2
Diabetic ketoacidosis, Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyop... OMIM:601992
Bloom Syndrome
Hepatic steatosis OMIM:210900
1P36 Deletion Syndrome
Annular pancreas, Camptodactyly of finger, Abnormality of the spleen, Abnormality of the liver, H... ORPHA:1606
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:619475
Exercise-Induced Malignant Hyperthermia
Hypotension, Acute kidney injury, Oliguria, Abnormal pulse pressure, Sinus tachycardia, Abnormal ... ORPHA:466650
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cirrhosis, Hepatomega... OMIM:229600
Digeorge Syndrome
Cholelithiasis, Umbilical hernia, Inguinal hernia, Hepatic steatosis, Splenomegaly, Femoral hernia OMIM:188400
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatomegaly OMIM:270400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis OMIM:618278
Woodhouse-Sakati Syndrome
Micropenis, Diabetes mellitus, Abnormal T-wave OMIM:241080
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave ORPHA:2131
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Abnormal T-wave ORPHA:444072
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Woodhouse-Sakati Syndrome
Micropenis, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Abnormal T-wave ORPHA:3464
Noonan Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Abnormal EKG ORPHA:648
Aromatase Deficiency
Hepatic steatosis ORPHA:91
Bardet-Biedl Syndrome
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:110
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Alström Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat... 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

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