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Gene: Mapk14 MGI:1346865

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mitogen-activated protein kinase 14
Synonyms:
p38,  p38 MAP kinase alpha,  p38MAPK,  Mxi2,  Csbp1,  CSBP2,  p38 MAP Kinase,  p38-alpha,  p38alpha,  p38 alpha,  p38 MAPK,  p38a,  Crk1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mapk14 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 Mapk14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Lymphopenia, Decreased specific ... OMIM:615897
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... OMIM:262700
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Decreased hemoglobin concentration,... OMIM:266200
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... ORPHA:848
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... ORPHA:90064
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... OMIM:600462
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... OMIM:194380
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Central hypothyroidism OMIM:616113
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Retinitis Pigmentosa 42
Pallor OMIM:612943
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... ORPHA:824
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Elliptocytosis 1
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice OMIM:611804
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... OMIM:614493
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Anemia ORPHA:163596
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Leishmaniasis
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... ORPHA:507
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Short stature, Pallor, Anisocytosis, Poikilocytosis, Elevated ... ORPHA:98870
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... ORPHA:231222
Retinitis Pigmentosa 81
Pallor OMIM:617871
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Retinitis Pigmentosa 60
Pallor OMIM:613983
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... OMIM:611590
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... ORPHA:300298
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Cold Agglutinin Disease
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... ORPHA:1959
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Short stature, Pallor, Paroxysmal atrial tachycardia, Ventricular septal de... ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Optic Atrophy 9
Pallor OMIM:616289
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... OMIM:252011
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Increased circulating... ORPHA:277
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly OMIM:232700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276556
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276575
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:98375
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276580
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... ORPHA:35858
Retinitis Pigmentosa 70
Pallor OMIM:615922
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Optic Atrophy 1
Pallor OMIM:165500
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophi... ORPHA:3226
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Pallor, Weakness... ORPHA:536516
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatomegaly, Pallor, Eosinophilia, Hepatosplenomegaly, Abnor... ORPHA:331206
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Aplasia/Hypoplasia of the abdominal wall musculature, E... ORPHA:3099
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia,... OMIM:611490
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia OMIM:613313
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Retinitis Pigmentosa 27
Pallor OMIM:613750
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypogonadism, Dia... ORPHA:181393
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice ORPHA:90033
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... OMIM:557000
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... OMIM:600802
Retinitis Pigmentosa 73
Pallor OMIM:616544
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia, Short stature ORPHA:3204
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Intrauterine growth retardation ORPHA:295
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
American Trypanosomiasis
Pallor, Arrhythmia, Myocarditis, Achalasia, Cardiomyopathy, Congestive heart failure ORPHA:3386
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Mild postnatal growth... OMIM:224120
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia ORPHA:99931
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:603552
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis,... ORPHA:199296
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Purpura, Neutropenia, Anemia OMIM:604250
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Anemia, Thrombocytopenia ORPHA:101028
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Bleeding Disorder, Platelet-Type, 16
Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrophy, Mitral reg... OMIM:619167
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Jaundice OMIM:617156
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Bone Marrow Failure Syndrome 4
Short stature, Leukopenia, Dry skin, Rhizomelia, Anemia, Thrombocytopenia OMIM:618116
Hemochromatosis, Neonatal
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Purpura, N... ORPHA:90051
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenome... OMIM:612840
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Short stature, Pancytopenia OMIM:616435
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Fumarase Deficiency
Polycythemia, Pallor, Cholestasis, Hepatic failure OMIM:606812
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
Senior-Loken Syndrome 8
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... ORPHA:263455
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, T... ORPHA:86839
Fanconi Anemia, Complementation Group I
Atrial septal defect, Short stature, Pallor, Ventricular septal defect, Patent foramen ovale, Int... OMIM:609053
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... OMIM:613027
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Precocious puberty, Congenital hypothyroidism OMIM:614736
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia, Acute pancreat... ORPHA:20
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Pallor, Normocytic anemia, Abnormality of neutrophils, Purpura, Leukemia ORPHA:33226
Thrombocytopenia 5
Anemia, Thrombocytopenia, Petechiae, Neutropenia OMIM:616216
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... ORPHA:95619
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Growth delay, Anemia, Bone-marrow foam cells ORPHA:75233
Retinitis Pigmentosa 51
Pallor OMIM:613464
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Anemia, Intrauterine growth retardation, Neonatal death OMIM:618835
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Rh Deficiency Syndrome
Hypochromia, Jaundice, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemoly... ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Intrauterine growth retardation, Neonatal death OMIM:618839
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemia, Anemic pallor ORPHA:329971
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Short stature, Persistence of hemoglobin F, Pallo... ORPHA:124
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Normo... OMIM:611881
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:348
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Beta-Ketothiolase Deficiency
Pallor, Thrombocytosis, Hepatomegaly, Leukocytosis ORPHA:134
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti... OMIM:600901
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pallor, Tachycardia, Junctional ect... ORPHA:137675
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Pituitary Stalk Interruption Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Adrenal hypoplasia, Hypoglycemia,... ORPHA:95496
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Dravet Syndrome
Pallor ORPHA:33069
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Fanconi Anemia, Complementation Group C
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Intr... OMIM:227645
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti... OMIM:227650
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Eosi... ORPHA:3260
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic steatosis, In... OMIM:261680
Myopathy, Mitochondrial, And Ataxia
Short stature, Pallor, Increased variability in muscle fiber diameter, Distal amyotrophy, Growth ... OMIM:617675
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Rare Circulatory System Disease
Intermittent claudication, Pallor, Elbow flexion contracture ORPHA:98028
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Short stature, Pallor, Thrombocytosis, Neutropenia, Thrombocytopen... OMIM:105650
Retinitis Pigmentosa 75
Pallor OMIM:617023
Von Hippel-Lindau Disease
Abnormal left ventricular function, Pallor, Palpitations, Arrhythmia, Myocarditis, Myocardial inf... ORPHA:892
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Facial hypotonia, Cardiomyop... ORPHA:2131
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:301000
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Short stature, Neutropenia OMIM:617243
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Fanconi Anemia, Complementation Group D2
Annular pancreas, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anem... OMIM:227646
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pallor, Growth delay, Anemia ORPHA:667
Pituitary Apoplexy
Pallor, Normochromic anemia ORPHA:95613
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... OMIM:615486
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... ORPHA:99125
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Sheehan Syndrome
Dry skin, Pallor, Normochromic anemia ORPHA:91355
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Degcags Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Pallor, Leukopenia, Abnormal spleen morphology, Hepa... OMIM:619488
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Delayed p... ORPHA:91347
Incontinentia Pigmenti
Leukocytosis, Short stature, Pallor, Eosinophilia, Erythema OMIM:308300
Prolactinoma
Delayed puberty, Pallor, Hypotension ORPHA:2965
Childhood Absence Epilepsy
Pallor ORPHA:64280
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Pallor, Hemolytic anemia, Thrombocytopenia ORPHA:544482
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Purpura, Neutropenia, Microangiopathi... ORPHA:2330
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Splenomegaly ORPHA:30
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Pallor, Palpitations, Hypertensive crisis, Proxima... ORPHA:653
Esophageal Atresia
Ventricular septal defect, Growth delay, Pallor, Tetralogy of Fallot ORPHA:1199
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Abnormal tendon morphology, Sudden cardiac d... ORPHA:391665
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly, Pancytopenia OMIM:181000
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237

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 Mapk14

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 Mapk14.

No publications found that use IMPC mice or data for Mapk14.

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MGI Allele Allele Type Produced
Mapk14tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) ES Cells
Mapk14tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mapk14tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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