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Gene: Pla2g4a MGI:1195256

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

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 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.

Human diseases associated with Pla2g4a (1 diseases)
Human diseases predicted to be associated with Pla2g4a (477 diseases)

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	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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