Gene Summary

ADP-ribosylation factor interacting protein 1
D3Ertd598e,  2310030I10Rik,  Arfaptin

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 testis morphology Arfip1em1(IMPC)Mbp HOM Early adult 0.00
small testis Arfip1em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Arfip1em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Arfip1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Dorso Ventral

60 Images


XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Arfip1 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 Arfip1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Follicular hyperplasia ORPHA:482
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia OMIM:619126
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... ORPHA:319487
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Genital ulcers, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... ORPHA:97290
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Splenomegaly OMIM:608971
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes ORPHA:543
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Alpha-Heavy Chain Disease
Lymphadenopathy, Premature ovarian insufficiency, Splenomegaly ORPHA:100025
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Thyroid Lymphoma
Goiter, Lymphadenopathy, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis ORPHA:97285
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Testicu... ORPHA:83469
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Immunodeficiency 72 With Autoinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Mediastinal lymphadenopathy, Neoplasm of the thymus, Increased circulati... ORPHA:97289
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Medullary Thyroid Carcinoma
Lymphadenopathy, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevat... ORPHA:1332
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Diabete... OMIM:235200
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Immunodeficiency 64
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... OMIM:618534
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency 54
Lymphadenopathy, Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly OMIM:609981
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Generalized lymph... OMIM:615559
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Immunodeficiency 27A
Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, Splenomegaly OMIM:209950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Thyroiditis, Splenomegaly OMIM:619375
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly, Hypogonadotropic hypogonadism ORPHA:353298
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Lymphadenopathy, Abnormality of the lymph nodes, Hypogonadism, Abnormal testis morp... ORPHA:85450
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Lymphatic Filariasis
Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic... ORPHA:2035
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Agammaglobulinemia, X-Linked
Epididymitis, Prostatitis, Lymph node hypoplasia OMIM:300755
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lig4 Syndrome
Type II diabetes mellitus, Lymphadenopathy, Hypothyroidism, Cryptorchidism, Hypoplasia of penis ORPHA:99812
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Omenn Syndrome
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Type I diabetes mellitus ORPHA:69126
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Pancreatic calcification, Abnormality of the lymph nodes ORPHA:677
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Cervical lymphadenopathy, Asplenia OMIM:614034
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Lymphadenopathy ORPHA:654
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes ORPHA:911
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Carcinoid Syndrome
Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Paragan... ORPHA:100093
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Recurrent tonsillitis OMIM:618935
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:3226
Lymphadenopathy, Splenomegaly ORPHA:507
Cutaneous Neuroendocrine Carcinoma
Merkel cell skin cancer, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:79140
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
H Syndrome
Amenorrhea, Azoospermia, Lymphadenopathy, Hypogonadism, Hepatosplenomegaly, Micropenis, Diabetes ... ORPHA:168569
Omenn Syndrome
Lymphadenopathy, Thyroiditis, Hypothyroidism, Splenomegaly ORPHA:39041
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Mediastinal lymphadenopathy, Lymphadenopathy, Parag... ORPHA:139411
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Griscelli Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:381
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Poems Syndrome
Lymphadenopathy, Abnormality of the endocrine system, Erectile dysfunction, Primary adrenal insuf... ORPHA:2905
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Familial Pancreatic Carcinoma
Lymphadenopathy, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Diabetes mellitus ORPHA:1333
Primary Myelofibrosis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatosplenomegaly, Thyroiditis, Type I diabetes mellitus, Hypothyroidism, Enlar... OMIM:606367
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Azoospermia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Micropenis... OMIM:602782
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy, Type I diabetes mellitus, Hypothyroidism OMIM:304790
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Thyroiditis, Type I diabetes mellitus... OMIM:614700
Aggressive Systemic Mastocytosis
Lymphadenopathy, Hepatosplenomegaly, Hypersplenism ORPHA:98850
Felty Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:47612
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Castleman Disease
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the thyroid gland ORPHA:52417
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Prostatitis, Lymphadenopathy, Abnormal pancreas morphology, A... ORPHA:449432
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Central hypothyroidism ORPHA:514
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Legionnaires Disease
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:549
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100080
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Chronic noninfectious lymphadeno... ORPHA:97287
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Prostate neoplasm, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia ORPHA:556
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Acute Promyelocytic Leukemia
Lymphadenopathy, Metrorrhagia ORPHA:520
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:260920
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Mevalonic Aciduria
Lymphadenopathy, Hepatosplenomegaly, Fluctuating splenomegaly OMIM:610377
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Thyroiditis ORPHA:139402
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233710
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100082
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Thymic Aplasia
Lymphadenopathy, Thyroiditis, Aplasia of the thymus, Hypothyroidism ORPHA:83471
Kikuchi-Fujimoto Disease
Lymphadenopathy, Abnormality of the lymph nodes, Splenomegaly, Generalized lymphadenopathy, Enlar... ORPHA:50918
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:306400
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center, Inappropriate antidiuretic hormone sec... ORPHA:79124
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Orchitis, Splenomegaly ORPHA:32960
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Small intestine ca... ORPHA:99889
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal mo... ORPHA:538
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Thyroid adenoma, H... ORPHA:3261
Familial Mediterranean Fever
Lymphadenopathy, Orchitis, Splenomegaly ORPHA:342
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100086
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Abnormality of... ORPHA:228123
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, Elevated circulati... ORPHA:100076
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Splenomegaly, Accessory spleen, Primary amenorrhea, Polysplenia OMIM:619418
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Abnormality of the endocrine system, Splenomegaly, Hyperthyroidism, Thyroiditis,... ORPHA:37042
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Thyroiditis, Sialadenitis, O... ORPHA:449563
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Cervical neoplasm, Medullary th... ORPHA:653
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Hypothyroidism OMIM:607944
Selective Igm Deficiency
Lymphadenopathy, Hashimoto thyroiditis, Lymphadenitis, Thyroid carcinoma ORPHA:331235
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatosplenomegaly, Type I diabetes m... OMIM:615688
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Increased serum serotonin, Primary hypercortisolism, Intestinal carcinoid, Chro... ORPHA:100079
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
Submandibular lymph node enlargement OMIM:118400
Ileal Neuroendocrine Tumor
Lymphadenopathy, Increased serum serotonin, Small intestine carcinoid ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Increased serum serotonin, Small intestine carcinoid ORPHA:100077
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils ORPHA:31150
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Lymphadenitis, Urethritis, T... ORPHA:449395
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Lymphadenopathy, Epididymitis, Spontaneous abortion, Splenomegaly, Hypersplenism, Orchitis ORPHA:1304
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Lymphadenopathy, Nodular goiter, Abnormality of the submandib... ORPHA:79078
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Pulmonary lymphangiectasia, Splenomegaly ORPHA:2136
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... ORPHA:2442
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Behçet Disease
Lymphadenopathy, Orchitis, Splenomegaly ORPHA:117
Diabetes insipidus, Lymphadenopathy, Abnormal reproductive system morphology, Abnormality of the ... ORPHA:797
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Epididymitis, Parotitis, Splenomegaly, Elevated circulating thyroid-stimulating ... OMIM:256040
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Inappropriate antidiuretic hormone secretion, Lymphadenopathy, Epididymiti... ORPHA:99827
African Trypanosomiasis
Abnormal prolactin level, Infertility, Lymphadenopathy, Abnormality of renin-angiotensin system, ... ORPHA:3385
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Primary Sjögren Syndrome
Lymphadenopathy, Vaginal dryness, Thyroiditis, Parotitis ORPHA:289390
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Marburg Hemorrhagic Fever
Lymphadenopathy, Orchitis ORPHA:99826
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Anoperineal fistula, Follicular hyperplasia, Splenomegaly OMIM:619381
Blau Syndrome
Lymphadenopathy, Abnormal salivary gland morphology, Splenomegaly ORPHA:90340
Lymphadenopathy ORPHA:509


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 Arfip1

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 Arfip1.

No publications found that use IMPC mice or data for Arfip1.

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MGI Allele Allele Type Produced
Arfip1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Arfip1tm195332(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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