Gene Summary

hematopoietic prostaglandin D synthase
H-PGDS,  Ptgds2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 Hpgdstm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged heart Hpgdstm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

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
Matching phenotypes Source
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
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
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
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
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
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
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
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
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
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
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... ORPHA:538
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
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
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
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
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
Abnormal lymph node morphology ORPHA:677
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
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


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
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter