Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phospholipase A2, group IVA (cytosolic, calcium-dependent)
Synonyms:
cPLA2,  cPLA2alpha,  cytosolic phospholipase A2,  Type IV PLA2,  Pla2g4,  cytosolic PLA2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Pla2g4a 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.

The table below shows human diseases associated to Pla2g4a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372

The table below shows human diseases predicted to be associated to Pla2g4a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Cere... OMIM:263300
Ethanolaminosis
Cardiomegaly OMIM:227150
Erythrocytosis, Familial, 1
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Pericardial Effusion, Chronic
Polycythemia, Pericardial effusion, Constrictive pericarditis OMIM:260900
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Pulmonary venous hypertension... ORPHA:3202
Poems Syndrome
Increased circulating antibody level, Abnormality of the endocrine system, Polycythemia, Increase... ORPHA:2905
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... OMIM:301075
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Erythrocytosis, Familial, 5
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:617907
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Increased hematocrit, Cerebral hemorrhage, Hyp... OMIM:263400
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... OMIM:611615
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... ORPHA:98850
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... OMIM:167800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Tendon rupture, R... ORPHA:85451
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Von Hippel-Lindau Disease
Abnormal left ventricular function, Polycythemia, Palpitations, Arrhythmia, Paraganglioma, Myocar... ORPHA:892
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Tempi Syndrome
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Increased circulating IgG level, Tel... ORPHA:284227
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Chylous Ascites
Pancreatitis ORPHA:1160
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Hepatic fibrosis, Cholesterol gallstone... OMIM:600803
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice OMIM:243300
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Splenomegaly ORPHA:66661
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Livedoid Vasculopathy
Telangiectasia of the skin, Graves disease, Leukocytosis, Polycythemia, Pancytopenia, Hypertensio... ORPHA:542643
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity OMIM:613652
Hypermanganesemia With Dystonia 1
Polycythemia, Hepatomegaly OMIM:613280
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Gout, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency OMIM:619386
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Ogden Syndrome
Enlarged kidney, Ventricular septal defect, Cardiomegaly, Torsade de pointes, Arrhythmia, Patent ... OMIM:300855
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Skeletal muscle hypertrophy, Primary amenorrhea, Oligom... ORPHA:79083
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... OMIM:235200
Attrv30M Amyloidosis
Impotence, Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Jau... ORPHA:65682
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Myopathy, Cardiomyopathy, Cardiomegaly OMIM:617713
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Splenomegaly, Polycythemia, Portal hypertension, Hypertrophic cardiomyopathy, Hypom... ORPHA:309854
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... OMIM:256030
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... ORPHA:171439
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Hepatocellular Carcinoma
Budd-Chiari syndrome, Hepatomegaly, Type II diabetes mellitus, Polycythemia, Hepatic necrosis, Hy... ORPHA:88673
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Elevated circu... OMIM:619632
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Abcd Syndrome
Polycythemia OMIM:600501
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... ORPHA:488650
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Patent ... OMIM:601005
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, Myocarditis, B lymphocytopenia, Increased proportion of CD25+ ... ORPHA:2442
Fumarase Deficiency
Polycythemia, Polymicrogyria OMIM:606812
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Congestive heart failure OMIM:269920
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Skeletal muscle hypertrophy, Abnormality of skeletal mu... ORPHA:2348
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis OMIM:154800
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Polyc... ORPHA:116
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Hepatomegaly, Decreased serum testosterone concentra... ORPHA:465508
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Hepatomegaly, Myofi... OMIM:115197
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Hepatomegaly, Cardiomegaly ORPHA:858
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pulmonic valve myxoma, Cardiomegal... ORPHA:615
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Mastocytosis
Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Arrhythmia, Hypotension, Mastocytosis, Ch... ORPHA:98292
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
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity OMIM:617006
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Abnormal cortical gyration, ... OMIM:616867
Estrogen Resistance
Acne, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Skeletal muscle atrop... OMIM:256550
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis, Joint contracture of the 5th finger OMIM:248910
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Insulin-resistant diabetes mellitus ORPHA:435651
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Myopathy, Hypertrophic ... OMIM:212140
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Insulin resistance, Hepatic ste... ORPHA:90970
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Pancreatitis, Hepatomegaly OMIM:618805
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Portal inflammation, Hepatic steatosis,... OMIM:603471
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pancreatitis, Pneumonia ORPHA:70578
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Abnormal na... ORPHA:167
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Hypertension, Anemia, Cardiomegaly OMIM:618886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Mitral regurgitation, Weakness of facial musculature... OMIM:258450
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Splenomegaly, Eczema, Lymphadenitis, Hepatosplenomegaly, Acute pancreatitis, Rec... OMIM:618935
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Third heart sound, Left ventricular diastolic dysfunction... ORPHA:57777
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated cardiomyopathy, Limb j... OMIM:255310
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Sickle Cell Anemia
Hepatomegaly, Priapism, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Hypertension,... OMIM:603903
Laryngotracheoesophageal Cleft
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Seckel Syndrome 10
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose... OMIM:617253
Cap Myopathy
Abnormal muscle fiber morphology, Facial palsy, Increased variability in muscle fiber diameter, L... ORPHA:171881
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly OMIM:619064
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Type II diabetes mellitus, Pancreatitis, Hypothyroidism, Type I diabetes mellitus ORPHA:412057
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly ORPHA:79312
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly ORPHA:289916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... OMIM:614399
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... ORPHA:31205
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Legionnaires Disease
Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Bone m... ORPHA:549
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Heart murmur, Diffuse alveolar hemorrha... ORPHA:99931
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly OMIM:251000
Von Hippel-Lindau Syndrome
Polycythemia, Hypertension, Pheochromocytoma, Paraganglioma OMIM:193300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Ventricular septal d... OMIM:602782
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Propionic Acidemia
Hypoglycemia, Eczema, Pancreatitis, Hepatomegaly OMIM:606054
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... ORPHA:52430
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... ORPHA:275766
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Myopath... OMIM:261740
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thromb... ORPHA:2968
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly ORPHA:27
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Insulin-resistant diabetes mellitu... ORPHA:79086
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Familial Chylomicronemia Syndrome
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Perianal abscess, Recurrent pancreatitis, Diabe... ORPHA:444490
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Arrhythmia, Hypotension, Mastocytosis ORPHA:2135
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arthritis, Uveitis, Increased inflammatory respo... ORPHA:727
Hyperlipoproteinemia, Type Id
Colitis, Pancreatitis, Hepatomegaly, Splenomegaly, Recurrent pancreatitis OMIM:615947
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Impotence, Cardiomyopathy, Cardiomegaly OMIM:105210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Palpitations, Increased variability in muscle fiber diameter, Muscular dys... OMIM:616812
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Perica... OMIM:239850
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... OMIM:619461
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormal circulating interleukin concentration, Autoimmunity, Antinuclear a... ORPHA:85410
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Sudden cardiac death, Exercise-induced rhabdomyolysis, Hyp... OMIM:201475
Roifman Syndrome
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Noncompaction c... ORPHA:353298
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect,... ORPHA:363705
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... ORPHA:1677
Primary Sclerosing Cholangitis
Cholelithiasis, Neoplasm of the gallbladder, Cholangiocarcinoma, Abnormal biliary tract morpholog... ORPHA:171
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly OMIM:255120
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... ORPHA:99104
Sandhoff Disease
Impotence, Hepatomegaly, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly, Skeletal musc... OMIM:268800
Eosinophilic Fasciitis
Eosinophilia, Muscular edema, Abnormal eosinophil morphology, Myositis ORPHA:3165
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... OMIM:618138
Dysbetalipoproteinemia
Hepatomegaly, Gout, Hypothyroidism, Acute pancreatitis, Diabetes mellitus, Hepatic steatosis ORPHA:412
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Familial Aortic Dissection
Patent ductus arteriosus, Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly ORPHA:229
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... OMIM:613954
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology ORPHA:1164
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Right axis devia... OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left ventricular hypertro... ORPHA:308552
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular hypertrophy, Right ventricular failure, Hyperte... OMIM:178600
Microsporidiosis
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... ORPHA:2552
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... ORPHA:536516
Cach Syndrome
Hepatosplenomegaly, Optic neuritis, Pancreatitis ORPHA:135
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Gout, In... OMIM:232220
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... OMIM:618484
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Testicular atrophy, Hypergonadotropic hypogonadism, EMG: myopathic abnorma... OMIM:157640
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Decreased circulating I... OMIM:618278
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Eosinophilia, Muscular dystrophy, Scapular winging, Myositis, Lower limb mus... OMIM:253600
Pure Autonomic Failure
Orthostatic hypotension, Impotence, Abnormality of circulating catecholamine level, Syncope ORPHA:441
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegal... OMIM:613327
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... OMIM:602771
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricular canal defect, Heart ... ORPHA:97214
Cleft Larynx, Posterior
Aspiration OMIM:215800
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
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Tachycardia, Cardiomegaly, Ventricular septal defect, Rhabdom... OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Necrobiosis Lipoidica
Telangiectasia of the skin, Abnormality of the thyroid gland, Diabetes mellitus, Abnormality of n... ORPHA:542592
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level OMIM:610475
Mogs-Cdg
Decreased circulating IgA level, Hepatomegaly, Atrial septal defect, Inappropriate antidiuretic h... ORPHA:79330
Systemic Capillary Leak Syndrome
Pericarditis, Pancreatitis, Myocarditis ORPHA:188
Glycogen Storage Disease Ia
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Gout, Hypoglycemia, Fasting hypoglycemia OMIM:232200
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hematochezia, Recurrent intrapulmonary hemorrhage, Arrhythmia, Microcytic a... ORPHA:906
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Increased circulating IgG1 level, Inflammatory abnormality of the skin... ORPHA:449395
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... ORPHA:980
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Bone marrow hypocellularity, Abnormality of thyroid physi... ORPHA:1830
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... ORPHA:596
Ebola Hemorrhagic Fever
Acute pancreatitis, Increased circulating antibody level, Maculopapular exanthema, Hepatitis ORPHA:319218
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant ... OMIM:151660
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... OMIM:620066
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Diabetes mellitus, Insulin resistance, Hepatic steatosis ORPHA:280365
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Increased variability in muscle fibe... OMIM:611881
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly OMIM:616897
Zygomycosis
Splenic abscess, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, ... ORPHA:73263
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni... OMIM:619802
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Pancreatitis, Hyperthyroidism, Increased circu... ORPHA:562
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Coccidioidomycosis
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Peritonitis, Abnormality of the spleen, Inc... ORPHA:228123
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cirrhosis, Congenital hepatic fibrosis, Intrahepa... ORPHA:480520
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Cholesterol gallstones, Gallbladder perforation, Abnormal... ORPHA:521219
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Arrhythmia, Polymicrogyria, Enlarged kidney, Increased muscle lipid content, Dilate... OMIM:608836
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Citrullinemia Type Ii
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hepatic fibrosis, Hepatic steatosis ORPHA:247585
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... OMIM:254090
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Lymphadenitis, Increased circulating IgG4 level, Parotitis ORPHA:449427
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatosplenomegaly, Chilblains, Hypothyroidism, Acute pancreatitis, Hepatic fibrosi... OMIM:619487
Pemphigus Erythematosus
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... ORPHA:79480
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Periodontitis, Hepatomegaly, Pancreatitis, Enterocolitis, Increased hepatic glycogen content, Hep... ORPHA:79259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Arrhythmia, Polymicrogyria, Abnormal myocardium morphology, Renal tubular epithelia... ORPHA:228308
Fucosidosis
Hypothyroidism, Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Mitral regurgitation, Weakness of facial musculature, Increased variabilit... OMIM:607459
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Mye... ORPHA:70591
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatic periportal necrosis, Hepatomegaly, Acute pancreatitis ORPHA:26791
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... ORPHA:169154
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Polysple... OMIM:306955
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis, Hepatomegaly, Splenomegaly, Diabetes mellitus ORPHA:565612
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardiomyopathy, Cardi... ORPHA:158687
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Flexion contracture, Splenomegaly, Macroglossia, Cardiomegaly OMIM:230000
Familial Mediterranean Fever
Pancreatitis, Orchitis, Skin rash, Splenomegaly, Peritonitis, Osteoarthritis, Erysipelas, Arthrit... ORPHA:342
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Truncus Arteriosus
Abnormal heart valve physiology, Adrenocortical abnormality, Atrial septal defect, Right ventricu... ORPHA:3384
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Anemia, Throm... OMIM:608013
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Antinuclear antibody positivity, Autoimmunity ORPHA:85436
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly ORPHA:1517
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circ... ORPHA:331206
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Behçet Disease
Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Keratoconjunctiviti... ORPHA:117
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Eosinophilia, Endocarditis,... ORPHA:183
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Increased circulating IgG4 level, Retr... ORPHA:449563
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Mucosal telangiectasiae, Small hypothenar eminence, Abnormality of... ORPHA:2463
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy ORPHA:70595
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Bicuspid aortic valve, Hypovolemia, Subarachnoid hemorrhage, ... ORPHA:91387
Spinocerebellar Ataxia Type 8
Impotence, Aspiration, Urinary incontinence ORPHA:98760
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pancreatitis, Jaundice ORPHA:370348
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Flexion contracture of finger, Hepatomegaly, Increased circ... OMIM:256040
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Insulin-resistant diabetes mellitus at p... OMIM:608594
Melas
Hypoparathyroidism, Type II diabetes mellitus, Hypothyroidism, Type I diabetes mellitus, Recurren... ORPHA:550
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... ORPHA:137675
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Rec... ORPHA:20
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Acanthocytosis, Hypothyroidism, Myopathy, Anemia, Distal lower lim... ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Left ventricu... ORPHA:365
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Chr... OMIM:219700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... OMIM:164310
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... OMIM:613470
Dermatomyositis
Telangiectasia of the skin, Abnormal eosinophil morphology, Sinus tachycardia, Arrhythmia, Myocar... ORPHA:221
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Budd-Chiari syndrome, Abnormal pericardi... ORPHA:284
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Idiopathic Hypereosinophilic Syndrome
Colitis, Pancreatitis, Inflammatory abnormality of the skin, Splenomegaly, Eczema, Chronic hepati... ORPHA:3260
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Hyperthyroidism, Weakness of facial musculature, EMG: myopathi... ORPHA:502423
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Insulin-resis... OMIM:269700
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Cushing Disease
Amenorrhea, Paradoxical increased cortisol secretion on dexamethasone suppression test, Lymphopen... ORPHA:96253
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Mitral regurgitation, Heart murmur, En... OMIM:252500
Pauci-Immune Glomerulonephritis
Pancreatitis, Tubulointerstitial nephritis, Crescentic glomerulonephritis, Glomerulonephritis, Ar... ORPHA:93126
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Granulomatosis With Polyangiitis
Sinusitis, Prostatitis, Pancreatitis, Skin rash, Otitis media, Chronic otitis media, Increased in... ORPHA:900
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita OMIM:619334
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pancreatitis, Myocarditis, Pneumonia, Diabetes mellitus, Septic arthritis ORPHA:544482
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Marburg Hemorrhagic Fever
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Maculopapular exanthema,... ORPHA:99826
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Gout, Hypoglycemia OMIM:232240
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Hepatomegaly, Macroglossia, Ventricular septal defect, Neonatal insulin-depen... ORPHA:96191
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... OMIM:245600
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... OMIM:606070
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Increased variability in muscle fiber diameter, Primary amenorrhea, Distal amyot... OMIM:617675
Lysinuric Protein Intolerance
Increased circulating antibody level, Hepatomegaly, Pancreatitis, Decreased response to growth ho... ORPHA:470
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Hemoperitoneum, Hepatomegaly, Orchitis, Splenomegaly, Conjunctivitis, Paro... ORPHA:99827
Aicardi-Goutières Syndrome
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Hepatosple... ORPHA:51
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, ... OMIM:102700
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Flexion contracture, Sple... ORPHA:581
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Flexion contracture, Increased variability in muscle fiber diameter, Increased intr... ORPHA:17
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Peritonitis, Pancreatitis ORPHA:90038
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts OMIM:613159
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Myocarditis, Cardiac arrest, Thyroiditis ORPHA:139402
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Myositis, Aspiration, Hypoventilation, Intercostal muscle weakness, Pu... ORPHA:258
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Reduced renal corticomedullary differentiation, Multiple renal cysts, Aspir... OMIM:618733
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Familial Adenomatous Polyposis
Thyroiditis, Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Hypothyroidism, Biliary tract obst... ORPHA:733
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Adrenocorti... OMIM:130650
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Melena, Eosinophilia, Cor pulmonale OMIM:158310
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Diabetes mellitus, Hepatic steatosis ORPHA:98908
Tay-Sachs Disease
Aspiration OMIM:272800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa ORPHA:79280
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Aspiration OMIM:610768
Stevens-Johnson Syndrome
Pancreatitis, Conjunctivitis ORPHA:36426
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Myocardial infarcti... ORPHA:99889
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flexion contracture, C... ORPHA:97297
Toxic Epidermal Necrolysis
Pancreatitis, Conjunctivitis ORPHA:537
Visceral Myopathy 1
Pancreatitis OMIM:155310
Lysinuric Protein Intolerance
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:222700
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Respiratory insufficiency due to muscle weakness ORPHA:600
Hyperparathyroidism-Jaw Tumor Syndrome
Primary hyperparathyroidism, Pancreatic adenocarcinoma, Pancreatitis ORPHA:99880
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Abnormal left ventricular function, Hepatomegaly, Lymphocyt... OMIM:619991
Parathyroid Carcinoma
Primary hyperparathyroidism, Pancreatic adenocarcinoma, Pancreatitis ORPHA:143
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Impaired glucose tolerance, Type I diabetes mellitus, Recurrent pancreatitis... OMIM:606721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Scorpion Envenomation
Glycosuria, Myocarditis, Acute pancreatitis, Hyperhidrosis, Hyperglycemia ORPHA:466677
Opitz Gbbb Syndrome
Micropenis, Hypospadias, Aspiration, Rectourethral fistula, Congenital posterior urethral valve, ... OMIM:300000
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Wiskott-Aldrich Syndrome
Melena, Decreased mean platelet volume, Large vessel vasculitis, Abnormal delayed hypersensitivit... OMIM:301000
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Horseshoe kidney, Esophagitis, Aspiration, Obstructive sleep apnea ORPHA:96182
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Stridor, Aspiration OMIM:614653
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Aspiration OMIM:618922
Native American Myopathy
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Arthrogryposis mu... ORPHA:168572
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Right ventricular failure, Mitral valve calcification, Increased pulmonary vascular... ORPHA:60025
Williams Syndrome
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... ORPHA:904
Familial Hypocalciuric Hypercalcemia
Pancreatitis ORPHA:405
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Singleton-Merten Syndrome 1
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... OMIM:182250
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Yellow Fever
Skin rash, Pancreatic hyperplasia, Acute pancreatitis, Increased circulating IgM level, Jaundice ORPHA:99829
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess OMIM:233690
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... ORPHA:3472
Halperin-Birk Syndrome
Aspiration OMIM:618651
Generalized Arterial Calcification Of Infancy
Adrenal calcification, Weak pulse, Retinal hemorrhage, Pericardial effusion, Left ventricular sys... ORPHA:51608
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, In... OMIM:615342
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Aspiration ORPHA:2131
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... OMIM:615343
Developmental And Epileptic Encephalopathy 100
Aspiration, Central sleep apnea, Obstructive sleep apnea OMIM:619777
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Granuloma, Impaired ox... OMIM:306400
Adnp Syndrome
Respiratory distress, Aspiration, Urinary incontinence ORPHA:404448
Alström Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Decreased circulating T4 concentration, Abnormal liv... ORPHA:64
Bilateral Perisylvian Polymicrogyria
Apnea, Aspiration ORPHA:98889
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Asthma, Apnea, Micropenis, Unilateral renal agenesis, Atopic dermatitis, Chronic otitis media, Ur... OMIM:619503
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Nephrolithiasis, Asthma, Otitis media, Hypospadias, Aspiration, Pneumonia, Hydronephrosis, Vesico... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Nephrolithiasis, Asthma, Otitis media, Hypospadias, Aspiration, Pneumonia, Hydronephrosis, Vesico... ORPHA:353277
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372

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 Pla2g4a

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 Pla2g4a.

No publications found that use IMPC mice or data for Pla2g4a.

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