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Gene: Phactr1 MGI:2659021

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Gene Summary

Name:
phosphatase and actin regulator 1
Synonyms:
9630030F18Rik,  Rpel1

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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
abnormal coat/ hair morphology Phactr1em1(IMPC)Mbp HOM Middle aged adult 2.95×10-07
decreased circulating aspartate transaminase level Phactr1em1(IMPC)Mbp HOM Late adult 1.36×10-24
abnormal lymph node morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
increased bone mineral content Phactr1em1(IMPC)Mbp HOM Early adult 3.30×10-08
decreased circulating alanine transaminase level Phactr1em1(IMPC)Mbp HOM Late adult 2.45×10-07
abnormal seminal vesicle morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
decreased leukocyte cell number Phactr1em1(IMPC)Mbp HOM Late adult 3.89×10-06
abnormal skin morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
enlarged seminal vesicle Phactr1em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Phactr1em1(IMPC)Mbp HOM Late adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Phactr1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Phactr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Infantile Spasms Syndrome
ORPHA:3451

The table below shows human diseases predicted to be associated to Phactr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop... OMIM:603552
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Abnor... ORPHA:54251
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Elevated circulating c... ORPHA:100083
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hematuria, Pro... OMIM:614034
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, ... ORPHA:507
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Inguinal lymphadenopathy, Cervical lymphad... OMIM:620514
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy, Elevated circulating C-r... OMIM:607115
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Autoimmun... OMIM:603909
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Pure red cell... OMIM:613179
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Hepatomegaly, Monocytosis, Lymphadenop... OMIM:619644
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Desmoplastic Small Round Cell Tumor
Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Ovari... ORPHA:83469
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg... OMIM:618935
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Tafro Syndrome
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Anemia, Lympha... ORPHA:457077
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Leukopenia, Spl... ORPHA:381
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta... ORPHA:824
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele... OMIM:618048
Congenital Toxoplasmosis
Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... OMIM:615122
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... OMIM:301078
Castleman Disease
Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Anemia, Generalized... ORPHA:160
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating amyloid A concentrat... OMIM:619750
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... ORPHA:829
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Hypopl... ORPHA:99812
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, He... ORPHA:2035
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Mediastinal lymphadenopathy, Pituitary adenoma, Pituitary prolactin cell... ORPHA:97289
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To... ORPHA:2686
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactiv... ORPHA:1451
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc... ORPHA:540
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu... OMIM:304790
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Lymphadenitis, Cholestasis, Vesicoureteral reflux, Splenomegaly, Leukocytosis, ... OMIM:615895
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100026
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat... OMIM:617099
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated urine mevalonic acid level, ... OMIM:610377
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia ORPHA:353298
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hyponatre... ORPHA:549
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Prolonged... OMIM:257200
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
Acute Monoblastic/Monocytic Leukemia
Oliguria, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L... ORPHA:514
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Increased urinary 11-deoxycorticosterone level, Clitoral hypertrophy, Long pe... ORPHA:90795
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega... OMIM:612783
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Urinary retention,... ORPHA:79124
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:520
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... ORPHA:79456
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... ORPHA:50918
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Prostatitis, B lymphocytopenia, Neutropenia, Enteroviral hepatitis, Anemia... OMIM:300755
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia, Hepat... OMIM:617591
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ... ORPHA:1332
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... ORPHA:47612
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Anemia, Thrombocytosis, Elevated circulating C-r... OMIM:615934
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria OMIM:613677
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... OMIM:214500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p... OMIM:614700
Nephroblastoma
Hematuria, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Liddle Syndrome 1
Hypokalemia, Renal insufficiency, Decreased circulating renin level OMIM:177200
Pediatric Systemic Lupus Erythematosus
Nephritis, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Dark urine, Renal insuffic... ORPHA:93552
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:619183
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Microcytic anemia, Lymp... ORPHA:168569
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Nephrotic syndrome, Hepatitis, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decre... ORPHA:37042
Acute Generalized Exanthematous Pustulosis
Cholestasis, Renal insufficiency, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr... ORPHA:293173
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ly... ORPHA:29073
Scrub Typhus
Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec... ORPHA:100093
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Klatskin Tumor
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomeg... OMIM:615688
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Neuroblastoma
Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar... ORPHA:635
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Ovarian neoplasm, Decreased circulating renin level ORPHA:231632
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Mixed Connective Tissue Disease
Nephropathy, Hemolytic anemia, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastin... ORPHA:809
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadenopathy, Tubulointerstitial ... ORPHA:139402
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or pr... ORPHA:83471
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233710
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly ORPHA:36412
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level ORPHA:231580
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal u... ORPHA:320
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233690
Brucellosis
Granuloma, Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, Leukocytosis, Orchi... ORPHA:1304
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenopathy, Elevated circulating C-reacti... ORPHA:32960
Graft Versus Host Disease
Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Lymphadenopathy, Chronic hepatitis, Acu... ORPHA:39812
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia... ORPHA:1572
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Leukocytosis, Splenomegaly, Orchitis, Proteinuria, Peritonitis, Pa... ORPHA:342
Waldenström Macroglobulinemia
Normocytic anemia, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Ab... ORPHA:33226
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Granuloma, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis... OMIM:306400
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Prostate neoplasm, Follicular hyperplasia, Orchi... ORPHA:556
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Decreased pro... OMIM:619381
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Splenomegaly, Lymphade... ORPHA:2905
Q Fever
Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ... ORPHA:781
Sarcoidosis
Abnormal lymph node morphology, Abnormal reproductive system morphology, Hepatomegaly, Tubulointe... ORPHA:797
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored... ORPHA:31150
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Lymphadenopathy, Neutropenia, Autoim... OMIM:607944
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... ORPHA:331235
Crimean-Congo Hemorrhagic Fever
Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Elevated circulat... ORPHA:99827
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Hennekam Syndrome
Horseshoe kidney, Lymphopenia, Hypocalcemia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiec... ORPHA:2136
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Eosinophilia, Lymphad... ORPHA:449563
Coccidioidomycosis
Granuloma, Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the liver... ORPHA:228123
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Carney Triad
Anemia, Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Immunodeficiency 31C
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Impaired lymphocyte tran... OMIM:614162
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp... ORPHA:499009
Farber Disease
Hepatic fibrosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic cholestasis... ORPHA:333
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy OMIM:620233
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Abnormal urinary color, Pulmonary lymphangiomyo... ORPHA:538
Immunodeficiency 87 And Autoimmunity
Cervical lymphadenopathy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, A... OMIM:619573
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Lymphopenia, Leukopeni... ORPHA:289390
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Aicardi-Goutieres Syndrome 7
Hepatitis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hepatic stea... OMIM:615846
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leuk... ORPHA:3260
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Cervical lymphadenopathy, Pheo... ORPHA:653
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi... ORPHA:100086
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... ORPHA:79078
Kawasaki Disease
Hypoalbuminemia, Sterile pyuria, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis... ORPHA:2331
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Microcytic anemia, Hypertriglyceridemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:256040
Systemic Lupus Erythematosus
Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic... ORPHA:536
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Horseshoe kidney, Cryp... OMIM:201750
Ileal Neuroendocrine Tumor
Hydronephrosis, Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis ORPHA:100078
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Pancytopenia, Splenomegaly, Hypercalciuria, Generalized lymph... OMIM:181000
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly ORPHA:667
Leptospirosis
Acute kidney injury, Hepatitis, Cellular urinary casts, Lymphadenopathy, Thrombocytopenia, Hepato... ORPHA:509
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Behçet Disease
Renal insufficiency, Splenomegaly, Orchitis, Pancreatitis, Lymphadenopathy ORPHA:117
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Increased urinary cortisol level, Pancreatic adenocarcinoma, Pheo... ORPHA:99889
Blau Syndrome
Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Splenomegaly, Lymphadenopa... ORPHA:90340
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphad... ORPHA:100079
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
African Trypanosomiasis
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal pr... ORPHA:3385
Infantile Spasms Syndrome
ORPHA:3451

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 Phactr1

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 Phactr1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis. The Journal of clinical investigation (April 2021) Phactr1em1(IMPC)Mbp PMC8262505
Molecular basis for substrate specificity of the Phactr1/PP1 phosphatase holoenzyme. eLife (September 2020) Phactr1tm1a(KOMP)Wtsi PMC7599070

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Phactr1tm44835(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Phactr1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phactr1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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