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Gene: Hpgds MGI:1859384

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Gene Summary

Name:
hematopoietic prostaglandin D synthase
Synonyms:
H-PGDS,  Ptgds2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Hpgdstm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal heart morphology Hpgdstm1b(KOMP)Wtsi HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadenopathy, Rec... ORPHA:499
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Dissecting Cellulitis Of The Scalp
Edema, Recurrent skin infections ORPHA:345
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, Recurrent otiti... OMIM:608971
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Immunodeficiency 75
Bronchiectasis, Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... ORPHA:90186
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent otiti... OMIM:618982
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis, Arthritis OMIM:617772
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Eczema, Decreased... OMIM:607271
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607594
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Increased circulating IgG level, Increased circulating IgM level, Recur... OMIM:619220
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, Increased circulating IgM level, Br... OMIM:615513
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Pleural... ORPHA:85414
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Absence of lymph node g... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphadenopathy, Splenomegaly, Recurrent otitis media ORPHA:444463
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Splenomegaly, Edema, Lymphadenopathy, Conjunctivitis OMIM:603552
Tularemia
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Cervical lymphaden... ORPHA:3392
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 27B
Salmonella osteomyelitis, Osteomyelitis, Generalized lymphadenopathy OMIM:615978
Immunodeficiency 27A
Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level... OMIM:209950
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Impaired Ig cl... OMIM:605258
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphedema, Pleural effusion, Lymphadenopathy ORPHA:545
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Recurrent skin infections, Abno... ORPHA:568051
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Osteomyelitis, Impaired Ig class switch recombination, Absence of lymph node germ... OMIM:608184
Immunodeficiency 64
Increased circulating IgA level, Decreased circulating IgG level, Defective T cell proliferation,... OMIM:618534
Classic Mycosis Fungoides
Skin rash, Splenomegaly, Eczema, Edema, Lymphadenopathy ORPHA:2584
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 52
Splenomegaly, Decreased circulating antibody level, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:617514
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy, Erythema nodosum OMIM:611762
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Recurrent sin... OMIM:613101
Immunodeficiency 76
Lymphadenopathy, Colitis, Recurrent pneumonia, Splenomegaly OMIM:619164
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin... OMIM:619924
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin, Periorbital edema, Edema, Lymphadenopathy ORPHA:2483
Mycosis Fungoides
Eczema, Lymphadenopathy, Psoriasiform dermatitis OMIM:254400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Hepatosplenome... OMIM:615559
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Lymphadenop... OMIM:618261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, ... OMIM:616100
Pseudomyxoma Peritonei
Ascites, Inflammation of the large intestine, Lymphadenopathy ORPHA:26790
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, EBV encephalitis, Uveitis, Decreased circulating antibody level... OMIM:615122
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... ORPHA:98848
Cinca Syndrome
Skin rash, Hepatosplenomegaly, Arthritis, Uveitis, Lymphedema, Lymphadenopathy OMIM:607115
Alpha-Heavy Chain Disease
Lymphadenopathy, Ascites, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Splenomegaly, Recurrent tonsillitis, Eczema, Lymphadenitis, Hepatosplenomegaly, ... OMIM:618935
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Myositis, Edema, Lymphadenopathy, Panniculitis OMIM:619183
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Infectious encephalitis, Arthritis ORPHA:42642
Schnitzler Syndrome
Skin rash, Splenomegaly, Arthritis, Increased circulating IgM level, Lymphadenopathy ORPHA:37748
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Lymphadenopathy, Chronic oral candidiasis OMIM:212050
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulating IgG level, Recurrent otit... OMIM:618495
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Thymic Tumor
Palpebral edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dysgammaglobulinemia, Edema... ORPHA:100100
American Trypanosomiasis
Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis, Edema, Periorbital edema, Lymphade... ORPHA:3386
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Sézary Syndrome
Splenomegaly, Abnormal immunoglobulin level, Edema, Erythroderma, Lymphadenopathy ORPHA:3162
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Recurrent aphthous stomatitis, Recurrent pneumonia, Bronc... OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... OMIM:618048
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Follicular hyperplasia, Decreased circulating antibody level, ... OMIM:619846
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Colitis, Chronic oral candidiasis, Skin rash, Abnormality of... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Incre... OMIM:308230
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Hypocomplementemic Urticarial Vasculitis
Skin rash, Splenomegaly, Arthritis, Angioedema, Episcleritis, Uveitis, Pleural effusion, Inflamma... ORPHA:36412
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Colitis, Conjunctivitis, Decreased circulating IgG level, Spleno... OMIM:614700
Mu-Heavy Chain Disease
Increased circulating antibody level, Lymphadenopathy, Splenomegaly ORPHA:100024
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly, Recurrent skin infections OMIM:612840
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Cyclic Neutropenia
Periodontitis, Sinusitis, Enterocolitis, Recurrent skin infections, Otitis media, Cervical lympha... ORPHA:2686
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Skin rash, Splenomegaly, Myositis, Arthritis, Pe... OMIM:617591
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Splenomegaly, Fulminant hepatitis, Reduced natural killer cell a... OMIM:308240
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Angioedema, Hepatitis, Tubulointerstit... ORPHA:139402
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Erysipelas, Myositi... OMIM:142680
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Nephritis, Cervical lymphadenopathy, Lymphaden... OMIM:614034
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Lymphadenopathy, Pericardial effusion, Pleural effusion ORPHA:411703
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Griscelli Syndrome
Splenomegaly, Hepatitis, Pedal edema, Decreased circulating antibody level, Bone marrow hypocellu... ORPHA:381
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Chronic otitis media, Lymphedema, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Boutonneuse Fever
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Increased circulating IgG level, In... ORPHA:83313
Immunodeficiency 91 And Hyperinflammation
Maculopapular exanthema, Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Recurrent ... OMIM:619644
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Splenomegaly, Stomatitis, Decreased circulating antibody level, ... OMIM:613011
Roifman Syndrome
Hepatosplenomegaly, Eczema, Decreased circulating antibody level, Recurrent pneumonia, Recurrent ... ORPHA:353298
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen, Skin rash ORPHA:33276
Adult-Onset Still Disease
Joint swelling, Skin rash, Splenomegaly, Myocarditis, Arthritis, Generalized lymphadenopathy, Hep... ORPHA:829
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Lymphadenopathy, Thyroiditis, Splenomegaly OMIM:619375
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Increased circulating IgA level, Skin rash, Increased circulating IgM level, Lymp... OMIM:617099
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Skin rash, Splenomegaly ORPHA:391
Omenn Syndrome
Splenomegaly, Edema, Pneumonia, Erythroderma, Lymphadenopathy, Thyroiditis ORPHA:39041
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Felty Syndrome
Sinusitis, Splenomegaly, Chronic otitis media, Arthritis, Episcleritis, Recurrent pneumonia, Bone... ORPHA:47612
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Recurre... OMIM:619802
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Nephritis, Splenomegaly, Chronic noninfectious lymphadenopathy, ... OMIM:603909
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Splenomegaly, Otitis media, Aplasia of the thymus, Panhypogammaglobulinemia, Generalized lymphade... OMIM:602450
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Skin rash, Myositis, Arthritis, Pleural effusion, Edema, Malar ras... ORPHA:93552
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Scrub Typhus
Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Infectious encephalitis, Lymphadenopathy ORPHA:83317
Mixed Connective Tissue Disease
Joint swelling, Gastritis, Skin rash, Splenomegaly, Xerostomia, Mediastinal lymphadenopathy, Myos... ORPHA:809
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
Cinca Syndrome
Splenomegaly, Uveitis, Edema, Retrobulbar optic neuritis, Lymphadenopathy, Inflammatory abnormali... ORPHA:1451
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Roifman Syndrome
Splenomegaly, Eczema, Recurrent pneumonia, Recurrent otitis media, Lymphadenopathy OMIM:616651
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Pneumonia, Erythroderma, Lymphadenopathy OMIM:603554
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Chronic o... OMIM:606367
Pleural Mesothelioma
Lymphadenopathy, Pleural effusion ORPHA:50251
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Chronic oral candidiasis, Splenomegaly, Recurrent aphthous stoma... OMIM:301078
Leishmaniasis
Increased circulating antibody level, Rhinitis, Splenomegaly, Lymphadenopathy ORPHA:507
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma, Increased circulating IgE level, ... OMIM:304790
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Diffuse Cutaneous Mastocytosis
Erythroderma, Lymphadenopathy, Abnormality of the spleen, Peau d'orange ORPHA:79456
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Hepatosplenomeg... ORPHA:39812
Q Fever
Increased circulating antibody level, Osteomyelitis, Splenomegaly, Maculopapular exanthema, Hepat... ORPHA:781
Hyper-Igd Syndrome
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Splenomegaly, Lymphadenitis... OMIM:260920
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Recurrent pneumonia OMIM:619750
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... OMIM:233710
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... OMIM:618986
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular ... OMIM:601859
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomatitis, Lymphaden... ORPHA:343
Aggressive Systemic Mastocytosis
Abnormal mast cell morphology, Maculopapular exanthema, Hepatosplenomegaly, Increased proportion ... ORPHA:98850
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:306400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Increased circulating IgA level, Hepatosplenomegaly, Increa... ORPHA:169154
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Skin rash, Splenomegaly, Peritonitis, Erysipelas, Myositis, Arthritis, Uveitis, Fasciit... ORPHA:32960
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... OMIM:233690
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Legionnaires Disease
Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Bone m... ORPHA:549
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Iridocyclitis, Oligoarthritis, Hepatosplenomegaly, Arthritis, Hip osteoarthritis,... ORPHA:85408
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, Panhypogammaglobulinemia, Pneumonia, Recu... OMIM:600802
Thyroid Lymphoma
Lymphadenopathy, Hashimoto thyroiditis ORPHA:97285
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Pustule, Skin rash, Follicular hyperplasia, Myositis, Increased ... OMIM:615934
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Bronchiectasis, Lymphadenopathy, Pericardial effusion ORPHA:79126
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia, Recurrent as... ORPHA:79124
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Autoimmune Lymphoproliferative Syndrome
Gastritis, Hypersplenism, Uveitis, Bone marrow hypocellularity, Increased circulating antibody le... ORPHA:3261
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Follicular hyperplasia, Splenomegaly OMIM:614470
Lymphatic Filariasis
Predominantly lower limb lymphedema, Orchitis, Lymphadenitis, Abnormality of the lymphatic system... ORPHA:2035
Familial Mediterranean Fever
Pancreatitis, Orchitis, Skin rash, Splenomegaly, Peritonitis, Osteoarthritis, Erysipelas, Arthrit... ORPHA:342
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Inflammatory abnormality o... ORPHA:37042
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Splenomegaly, Hepatosplenomegaly, Reduced natural killer cell activity, Infectious enc... OMIM:603553
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Chronic otitis media, Pneumonia, Splenomegaly ORPHA:169090
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Mevalonic Aciduria
Skin rash, Fluctuating splenomegaly, Increased circulating IgD level, Hepatosplenomegaly, Edema, ... OMIM:610377
Common Variable Immunodeficiency
Otitis media, Splenomegaly, Chronic otitis media, Decreased circulating antibody level, Pneumonia... ORPHA:1572
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Lymphadenopathy, Skin rash, Splenomegaly ORPHA:100026
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Mediastinal lymphadenopathy, Pedal edema, Pleural effusion, Lymphadenopathy, Per... ORPHA:199241
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Aplasia of the thymus, Chronic otitis... ORPHA:83471
Castleman Disease
Increased circulating interleukin 6 concentration, Follicular hyperplasia, Mediastinal lymphadeno... ORPHA:160
Coccidioidomycosis
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peritonitis, Mediastinal l... ORPHA:228123
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Facial edema, Xerostomia, Increased circulatin... ORPHA:449432
Brucellosis
Myocarditis, Epididymitis, Knee osteoarthritis, Pneumonia, Pericarditis, Septic arthritis, Osteom... ORPHA:1304
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Desmoplastic Small Round Cell Tumor
Ascites, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Chikungunya
Joint swelling, Facial edema, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Arthr... ORPHA:324625
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Immunodeficiency 82 With Systemic Inflammation
Joint swelling, Crohn's disease, Osteomyelitis, Colitis, Gastritis, Skin rash, Recurrent skin inf... OMIM:619381
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Inflammation of the large intestine OMIM:617718
Kikuchi-Fujimoto Disease
Pustule, Skin rash, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nodes, Palpe... ORPHA:50918
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Increased circulating IgG1 level... ORPHA:449395
Niemann-Pick Disease, Type A
Ascites, Lymphadenopathy, Splenomegaly OMIM:257200
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Nephritis, Increased c... ORPHA:2442
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Behçet Disease
Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Keratoconjunctiviti... ORPHA:117
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hennekam Syndrome
Lymphangioma, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Erysipelas,... ORPHA:2136
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:616897
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Poems Syndrome
Increased circulating antibody level, Pleural effusion, Edema, Ascites, Pericardial effusion, Lym... ORPHA:2905
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Splenomegaly, Eczema, Hepatosplenomegaly, Arthritis, Recurrent sinusitis, Decreased ci... OMIM:615688
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Hemophagocytic Lymphohistiocytosis, Familial, 1
Generalized edema, Lymphadenopathy, Infectious encephalitis, Splenomegaly OMIM:267700
Immunodeficiency 55
Eczema, Lymphadenopathy, Recurrent skin infections OMIM:617827
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Eczema, Lymphadenitis, Inflammation of the large intestine, Erythroderma, Lymphaden... OMIM:615895
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... ORPHA:85436
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Farber Disease
Joint swelling, Hepatosplenomegaly, Hydrops fetalis, Arthritis, Lymphadenopathy, Ascites ORPHA:333
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Tubulointerstitial nephritis, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:85450
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly ORPHA:465508
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Igg4-Related Dacryoadenitis And Sialadenitis
Facial edema, Increased circulating IgA level, Xerostomia, Palpebral edema, Myositis, Increased c... ORPHA:79078
Waldenström Macroglobulinemia
Splenomegaly, Pedal edema, Pleural effusion, Periorbital edema, Monoclonal immunoglobulin M prote... ORPHA:33226
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Skin rash, Splenomegaly, Atopic dermatitis, Chilblains, Art... OMIM:615846
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Ascites, Cholecystitis ORPHA:100086
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Spondyloenchondrodysplasia With Immune Dysregulation
Joint swelling, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis, Pneumon... OMIM:607944
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Palpebral edema, Increased circulating... ORPHA:449563
Blau Syndrome
Keratitis, Joint swelling, Iridocyclitis, Skin rash, Splenomegaly, Xerostomia, Abnormal inflammat... ORPHA:90340
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Splenomegaly, Mediastinal lymphadenopathy, I... OMIM:181000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Periodontitis, Skin rash, Splenomegaly, Hepatosplenomegaly, ... ORPHA:167
Aregenerative Anemia
Bone marrow hypocellularity, Abnormality of interleukin secretion, Lymphadenopathy ORPHA:101096
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Posterior uveitis ORPHA:52417
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... ORPHA:420741
H Syndrome
Upper eyelid edema, Hepatosplenomegaly, Chronic rhinitis, Bronchiectasis, Lymphadenopathy, Psoria... ORPHA:168569
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:308552
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Primary Sjögren Syndrome
Increased circulating antibody level, Chronic active hepatitis, Optic neuritis, Lymphocytic inter... ORPHA:289390
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Kawasaki Disease
Cheilitis, Skin rash, Cervical lymphadenopathy, Myocarditis, Cholecystitis, Arthritis, Hepatitis,... ORPHA:2331
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Increased circulating interleukin 6 concentration, Pancreatitis, Pleural empyema, ... ORPHA:544482
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Splenomegaly, Cervic... ORPHA:3260
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:614921
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Periodontitis, Splenomegaly, Impaired neutrophil bactericida... OMIM:214500
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Nephroblastoma
Lymphadenopathy ORPHA:654
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Lymphedema, Pulmonary lymphan... ORPHA:538
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Acute Promyelocytic Leukemia
Stomatitis, Lymphadenopathy ORPHA:520
Plague
Enlarged mesenteric lymph node, Enterocolitis, Skin rash, Splenomegaly, Lymphadenitis, Endocardit... ORPHA:707
Malakoplakia
Inflammatory abnormality of the skin, Orchitis, Skin rash, Follicular hyperplasia, Urinary bladde... ORPHA:556
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Crimean-Congo Hemorrhagic Fever
Orchitis, Conjunctivitis, Splenomegaly, Parotitis, Increased circulating IgG level, Myocarditis, ... ORPHA:99827
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Carney Triad
Ascites, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Abnormal aortic valve morphology, A... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Sarcoidosis
Joint swelling, Chylothorax, Abnormality of the lymph nodes, Maculopapular exanthema, Tubulointer... ORPHA:797
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Marburg Hemorrhagic Fever
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Maculopapular exanthema,... ORPHA:99826
Leptospirosis
Optic neuritis, Skin rash, Hepatitis, Uveitis, Pleural effusion, Pericarditis, Lymphadenopathy ORPHA:509
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:252500
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly ORPHA:98849
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Ogden Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enlarged kidney, Vent... OMIM:300855
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:137675
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Autosomal Recessive Malignant Osteopetrosis
Chronic rhinitis, Lymphadenopathy, Splenomegaly, Otitis media ORPHA:667
Ileal Neuroendocrine Tumor
Lymphadenopathy, Edema ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Edema ORPHA:100077
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:365
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Splenomegaly ORPHA:567983
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Lymphadenopathy, Splenomegaly OMIM:619418
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Edema ORPHA:100076
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
African Trypanosomiasis
Keratitis, Optic neuritis, Splenomegaly, Iritis, Hepatosplenomegaly, Myelitis, Myocarditis, Peric... ORPHA:3385
Cushing Syndrome Due To Ectopic Acth Secretion
Recurrent cutaneous fungal infections, Abnormality of the lymph nodes, Neoplasm of the thymus, Pe... ORPHA:99889
Liver Disease, Severe Congenital
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Subvalvular aortic s... OMIM:619991
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... ORPHA:116
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopathy, Cardiomegaly ORPHA:3472
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... ORPHA:904
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly ORPHA:51608
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016

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.

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MGI Allele Allele Type Produced
Hpgdstm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hpgdstm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hpgdstm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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