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Gene: Hpgds MGI:1859384

Gene Summary

Name:

hematopoietic prostaglandin D synthase

Synonyms:

H-PGDS, Ptgds2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal heart morphology		Hpgds^{tm1b(KOMP)Wtsi}	HOM		Early adult	0.00
enlarged heart		Hpgds^{tm1b(KOMP)Wtsi}	HOM		Early adult	0.00

Download data as: TSV XLS

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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 Hpgds 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 Hpgds (0 diseases)
Human diseases predicted to be associated with Hpgds (357 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Ethanolaminosis	Cardiomegaly	OMIM:227150
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Dissecting Cellulitis Of The Scalp	Recurrent skin infections, Edema	ORPHA:345
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, Otitis media...	OMIM:608971
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Hepatosplenomegaly, Bronchiectasis, Follicular hyperplasia	OMIM:619126
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He...	OMIM:618982
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency, Common Variable, 2	Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas...	OMIM:240500
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgG level, Incre...	OMIM:619220
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgM level, Decreased circula...	OMIM:615513
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural...	ORPHA:85414
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphaden...	OMIM:607594
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Tularemia	Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Mediastinal l...	ORPHA:3392
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Splenomegaly, Decreased specific anti-polysaccharide antibody level,...	OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Edema, Splenomegaly, Lymphadenopathy, Conjunctivitis	OMIM:603552
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis, Lymphadenopathy	ORPHA:444463
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Immunodeficiency 27B	Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis	OMIM:615978
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent...	ORPHA:277
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, In...	OMIM:209950
Follicular Lymphoma	Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion	ORPHA:545
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le...	ORPHA:397596
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglo...	ORPHA:98813
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu...	ORPHA:568051
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Bronchiectasis, Impaired Ig class switch recombination, Absence of lymph node germ...	OMIM:608184
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Decreased circula...	OMIM:620282
Immunodeficiency 52	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Decreased circulating antibod...	OMIM:617514
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splenomeg...	OMIM:618534
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Classic Mycosis Fungoides	Skin rash, Eczema, Edema, Splenomegaly, Lymphadenopathy	ORPHA:2584
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Kimura Disease	Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Lymphadenopathy	ORPHA:2483
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa...	OMIM:613101
Immunodeficiency 105	Skin rash, Absence of lymph node germinal center, Decreased circulating antibody level, Hepatospl...	OMIM:619924
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Alpha-Heavy Chain Disease	Splenomegaly, Ascites, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:100025
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Lymphadenop...	OMIM:618261
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Colitis, Lymphadenopathy	OMIM:619164
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Reduced natural killer cell activity, Follicular hyperplasia, Medias...	OMIM:615559
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, Decreased circ...	OMIM:616100
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Lymphadenopathy	ORPHA:26790
Cinca Syndrome	Skin rash, Lymphedema, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis	OMIM:607115
Lymphoproliferative Syndrome 2	Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepatosplenomegaly, Decreased circu...	OMIM:615122
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Lymphadenopathy	ORPHA:157991
Indolent Systemic Mastocytosis	Skin rash, Maculopapular exanthema, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ ...	ORPHA:98848
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, R...	OMIM:618935
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Pfapa Syndrome	Splenomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy	ORPHA:42642
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Bronchiectasis, Ato...	ORPHA:436159
Schnitzler Syndrome	Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Increased circulating IgM level	ORPHA:37748
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Proteasome-Associated Autoinflammatory Syndrome 4	Myositis, Edema, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Lymphadenopathy, Chronic oral candidiasis	OMIM:212050
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphocytic interstitial pneumonia, Splenomegaly, Lymphadenopathy, Increased circulating IgG leve...	OMIM:618495
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Splenomegaly,...	ORPHA:158061
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Recurrent aphthous stomatitis...	OMIM:150550
Sézary Syndrome	Edema, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma	ORPHA:3162
American Trypanosomiasis	Skin rash, Edema, Periorbital edema, Myocarditis, Splenomegaly, Lymphadenopathy, Infectious encep...	ORPHA:3386
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Follicular hyperplasia, Lymphadenopathy, Decreased circulating...	OMIM:619846
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In...	OMIM:308230
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Skin rash, Increased circulating IgA level, Periorbital ed...	OMIM:618048
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c...	ORPHA:911
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level	OMIM:618987
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Acute Lung Injury	Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Edema, Abnormal...	ORPHA:178320
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na...	ORPHA:540
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Pneumonia, Erythema nodosum, Splenomegaly, Recur...	OMIM:614700
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Mu-Heavy Chain Disease	Splenomegaly, Increased circulating antibody level, Lymphadenopathy	ORPHA:100024
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Pericardial effusion, Splenomegaly, Angioedema, Uveitis, Lymphadenopathy...	ORPHA:36412
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Re...	ORPHA:2686
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Recurrent skin infections, Hepatosplenomegaly	OMIM:612840
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Lymphadenopathy, Tubulointer...	ORPHA:139402
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Splenomegaly, Fulminant hepatitis, De...	OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Periorbital edema, Splenomegaly, Lymphadenopathy, Arthritis, Pann...	OMIM:617591
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Bronchiectasis, Lymphadenopathy	ORPHA:411703
Cutaneous Mastocytoma	Peau d'orange, Angioedema, Maculopapular exanthema, Lymphadenopathy	ORPHA:79455
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Cervical lymphadenopathy, Oligoa...	OMIM:142680
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphadenopathy, Lymphadeno...	OMIM:614034
Lymphoproliferative Syndrome 1	Pericardial effusion, Splenomegaly, Lymphadenopathy, Decreased circulating antibody level, Stomat...	OMIM:613011
Roifman Syndrome	Eczema, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno...	ORPHA:353298
Boutonneuse Fever	Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat...	ORPHA:83313
Griscelli Syndrome	Splenomegaly, Hepatitis, Pedal edema, Lymphadenopathy, Decreased circulating antibody level, Bone...	ORPHA:381
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Deafness-Lymphedema-Leukemia Syndrome	Lymphedema, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Chronic otitis media	ORPHA:3226
Immunodeficiency 91 And Hyperinflammation	Membranoproliferative glomerulonephritis, Maculopapular exanthema, Edema, Recurrent pneumonia, Ly...	OMIM:619644
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Classic Hodgkin Lymphoma	Splenomegaly, Skin rash, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Glomerulonephritis, Thyroiditis, Lymphadenopathy	OMIM:619375
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Mediastinal lymphadenopathy, Splenomegaly, Enterocolitis, Decr...	OMIM:619802
Adult-Onset Still Disease	Pericarditis, Generalized lymphadenopathy, Skin rash, Myocarditis, Splenomegaly, Hepatitis, Arthr...	ORPHA:829
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy, Skin rash, Lymphedema	ORPHA:33276
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Increased circulating IgA level, Lymphadenopathy, Increased circulating IgM level, Joi...	OMIM:617099
Omenn Syndrome	Pneumonia, Edema, Splenomegaly, Thyroiditis, Lymphadenopathy, Erythroderma	ORPHA:39041
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, Increased circulatin...	OMIM:602450
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S...	OMIM:603909
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Lymphadenopa...	ORPHA:47612
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In...	ORPHA:542323
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Immunodeficiency 7	Recurrent otitis media, Splenomegaly, Lymphadenopathy, Chronic oral candidiasis	OMIM:615387
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, D...	ORPHA:331235
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Lymphadenopathy, Arthritis,...	ORPHA:93552
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Mediastinal lymphadenopathy, Splenomeg...	ORPHA:809
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Infectious encephalitis	ORPHA:83317
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Cinca Syndrome	Edema, Splenomegaly, Retrobulbar optic neuritis, Uveitis, Lymphadenopathy, Inflammatory abnormali...	ORPHA:1451
Pleural Mesothelioma	Pleural effusion, Lymphadenopathy	ORPHA:50251
Roifman Syndrome	Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media	OMIM:616651
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Increased circulating IgE level, Decreased specific anti-polysac...	OMIM:606367
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Leishmaniasis	Splenomegaly, Rhinitis, Increased circulating antibody level, Lymphadenopathy	ORPHA:507
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Lymphadenopathy, Arthriti...	OMIM:304790
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Lymphadenopathy, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Chroni...	OMIM:301078
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Diffuse Cutaneous Mastocytosis	Peau d'orange, Abnormality of the spleen, Lymphadenopathy, Erythroderma	ORPHA:79456
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymp...	OMIM:260920
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He...	ORPHA:85408
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Decreased circulating antibody level	OMIM:619750
Neuraminidase Deficiency	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:256550
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Partial absence of specific antibody response to Haemophilus influen...	OMIM:618986
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233710
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Pustule, Facial edema, Cheilitis, Lymphadenopathy, ...	ORPHA:293173
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial effusion, Myocarditi...	ORPHA:781
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphthous stom...	ORPHA:343
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenop...	ORPHA:169154
Aggressive Systemic Mastocytosis	Maculopapular exanthema, Hypersplenism, Lymphadenopathy, Hepatosplenomegaly, Ascites, Increased p...	ORPHA:98850
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S...	OMIM:601859
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:306400
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233690
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Periorbital ed...	ORPHA:32960
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Thyroid Lymphoma	Hashimoto thyroiditis, Lymphadenopathy	ORPHA:97285
Acute Interstitial Pneumonia	Pericardial effusion, Bronchiectasis, Lymphadenopathy, Peripheral edema, Pleural effusion	ORPHA:79126
Hemochromatosis, Type 1	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Legionnaires Disease	Pericarditis, Myocarditis, Splenomegaly, Hepatitis, Endocarditis, Lymphadenopathy, Bone marrow hy...	ORPHA:549
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Skin rash, Increased circulating IgA level, Pustule, Follicular hyperplasia, Paratrache...	OMIM:615934
Lymphatic Filariasis	Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Kne...	ORPHA:2035
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Hemophagocytic Lymphohistiocytosis, Familial, 2	Skin rash, Edema, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Lymphad...	OMIM:603553
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Increased circulating antibody level, Follicular hyperplasia	OMIM:614470
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Chronic mucocutaneous candidiasis, Hepatosplenomegaly, Abn...	ORPHA:79124
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG lev...	ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Absent peripheral lymph nodes in presence of infection, Recurrent otitis media, Cutane...	OMIM:600802
Mevalonic Aciduria	Skin rash, Edema, Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Morbilliform ras...	OMIM:610377
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Pedal edema, Lympha...	ORPHA:342
Gamma-Heavy Chain Disease	Splenomegaly, Skin rash, Rheumatoid arthritis, Lymphadenopathy	ORPHA:100026
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Splenomegaly, Pneumonia, Lymphadenopathy	ORPHA:169090
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Lympha...	ORPHA:83471
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp...	ORPHA:160
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Omenn Syndrome	Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Erythroderma	OMIM:603554
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Common Variable Immunodeficiency	Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Lymphadenopathy, O...	ORPHA:1572
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce...	ORPHA:3243
Chikungunya	Maculopapular exanthema, Skin rash, Erythema nodosum, Facial edema, Cervical lymphadenopathy, Cru...	ORPHA:324625
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Decreased circulating ...	OMIM:619381
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circula...	ORPHA:449432
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P...	ORPHA:228123
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Ascites, Lymphadenopathy	ORPHA:83469
Brucellosis	Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epididymitis, Lymp...	ORPHA:1304
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Pedal edema, Lymphadenopathy, Pleural effusion...	ORPHA:199241
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Hennekam Syndrome	Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Lymp...	ORPHA:2136
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Skin rash, Palpebral edema, Pustule, Myocarditis, Cervical lymphaden...	ORPHA:50918
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Lymphadenopathy, Inflammation of the la...	OMIM:617718
Niemann-Pick Disease, Type A	Splenomegaly, Ascites, Lymphadenopathy	OMIM:257200
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Generalized edema, Infectious encephalitis, Lymphadenopathy	OMIM:267700
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Splenomegaly, Lymphadenopathy, Inflammation of the large intestine, Erythr...	OMIM:615895
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Erythema nodosum, Splenomegaly, Decreased circulating antibody level, Hepatosp...	OMIM:615688
Poems Syndrome	Edema, Pericardial effusion, Lymphadenopathy, Increased circulating antibody level, Pleural effus...	ORPHA:2905
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Increased circulating IgG4 level, Lymphadenit...	ORPHA:449395
Farber Disease	Hydrops fetalis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Joint swelling, Ascites	ORPHA:333
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Immunodeficiency 55	Recurrent skin infections, Eczema, Lymphadenopathy	OMIM:617827
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Waldenström Macroglobulinemia	Periorbital edema, Splenomegaly, Pedal edema, Lymphadenopathy, Pleural effusion, Monoclonal immun...	ORPHA:33226
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac...	ORPHA:79078
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblains, Edema, Pericar...	OMIM:615846
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Lymphadenopathy, Joint swelling, Recurrent sinusitis, Rheumatoid arthritis, Recurrent ...	OMIM:607944
Immunodeficiency 31C	Osteomyelitis, Eczema, Splenomegaly, Bronchiectasis, Chronic mucocutaneous candidiasis, Lymphaden...	OMIM:614162
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:465508
Malt Lymphoma	Mediastinal lymphadenopathy, Posterior uveitis, Lymphadenopathy	ORPHA:52417
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	OMIM:268800
Igg4-Related Ophthalmic Disease	Sinusitis, Palpebral edema, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, P...	ORPHA:449563
Kawasaki Disease	Pericarditis, Skin rash, Edema, Myocarditis, Cervical lymphadenopathy, Hepatitis, Cheilitis, Arth...	ORPHA:2331
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Aregenerative Anemia	Abnormality of interleukin secretion, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Gallbladder Neuroendocrine Tumor	Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis	ORPHA:100086
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Generalized lymphadenopathy, Pericardial effusion, Iridocycliti...	OMIM:181000
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Arthritis, Decreased circulating tot...	ORPHA:420741
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Skin rash, Edema, Pericardial effusion, Splenomegaly, Hepato...	ORPHA:167
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Mediastinal lymphadenopathy, Bronchiectasis, Pleural effusion, Recurrent otitis media, Hilar lymp...	OMIM:620233
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
H Syndrome	Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Upper eyelid edema,...	ORPHA:168569
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Generalized edema, Pneumonia, Edema, Myocardit...	ORPHA:544482
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly	OMIM:608836
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Generalized lymphadenopathy, Eczema, Cholangitis, Splenomeg...	ORPHA:3260
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Systemic Lupus Erythematosus	Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Malar rash, Serositis	ORPHA:536
Primary Myelofibrosis	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Acute Promyelocytic Leukemia	Stomatitis, Lymphadenopathy	ORPHA:520
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Splenomegaly, Lym...	OMIM:214500
Plague	Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocolitis, Endo...	ORPHA:707
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Nephroblastoma	Lymphadenopathy	ORPHA:654
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Lymphangioleiomyomatosis	Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ...	ORPHA:538
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Carney Triad	Mediastinal lymphadenopathy, Ascites, Lymphadenopathy	ORPHA:139411
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Splenomegaly, Pericard...	ORPHA:99827
Fucosidosis	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Sarcoidosis	Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Lymphadenopathy, Abnormal lym...	ORPHA:797
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve...	ORPHA:581
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Marburg Hemorrhagic Fever	Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Lymphadenopathy, Dehydration...	ORPHA:99826
Leptospirosis	Pericarditis, Skin rash, Hepatitis, Uveitis, Lymphadenopathy, Optic neuritis, Pleural effusion	ORPHA:509
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly	OMIM:618278
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Abnormal mast cell morphology, Lymphadenopathy	ORPHA:98849
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Chronic rhinitis, Otitis media, Lymphadenopathy	ORPHA:667
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:365
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Abnormality of cytokine secretion	ORPHA:567983
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly	ORPHA:14
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Ileal Neuroendocrine Tumor	Edema, Lymphadenopathy	ORPHA:100078
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy	OMIM:619418
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Neoplasm of the thymus, Pedal edema, Recurrent cutaneous fungal infections, Abnormal lymph ...	ORPHA:99889
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:51
African Trypanosomiasis	Pericarditis, Keratitis, Myocarditis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Optic ne...	ORPHA:3385
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki...	ORPHA:116
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608

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 Hpgds

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 Hpgds.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Hpgds^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Hpgds^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Hpgds^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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