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Gene: Spata31f3 MGI:2679716

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Gene Summary

Name:
spermatogenesis associated 31 subfamily F member 3
Synonyms:
Fam205c,  BC049635

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Spata31f3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Spata31f3em1(IMPC)Ccpcz HOM Early adult 2.70×10-05
enlarged thymus Spata31f3em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Spata31f3em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Spata31f3em1(IMPC)Ccpcz HOM Early adult 0.00
increased CD8-positive, alpha-beta T cell number Spata31f3em1(IMPC)Ccpcz HOM Early adult 4.74×10-05
abnormal heart morphology Spata31f3em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Spata31f3em1(IMPC)Ccpcz HOM Early adult 0.00
increased CD8-positive, naive alpha-beta T cell number Spata31f3em1(IMPC)Ccpcz HOM Early adult 1.23×10-15
abnormal testis morphology Spata31f3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Spata31f3em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Spata31f3 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 Spata31f3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell cou... OMIM:618982
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Ethanolaminosis
Cardiomegaly OMIM:227150
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99976
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, ... OMIM:611926
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... OMIM:300853
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... ORPHA:543
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Hepatosplenomegaly, Bilateral single transverse palmar creases, ... ORPHA:353298
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Roifman Syndrome
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventricular septal defect,... OMIM:616651
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia OMIM:603552
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Lymphadenopathy, ... OMIM:209950
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:858
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno... ORPHA:100083
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhe... OMIM:235200
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Metaphyseal irregularity OMIM:269920
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
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
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:603909
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Lig4 Syndrome
Acute leukemia, Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Leukocytosis, Hypothyroi... ORPHA:99812
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Omenn Syndrome
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... ORPHA:39041
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Neuraminidase Deficiency
Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lympho... OMIM:256550
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Cardiomyopath... OMIM:300280
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Clinodactyly, Lymphadenopathy, Thrombocytopenia, B lympho... OMIM:618048
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Anemia, Ovarian neoplasm, Mediastinal lymphad... ORPHA:83469
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Leishmaniasis
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly, Lymphadenop... ORPHA:507
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Cardi... ORPHA:465508
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly ORPHA:79477
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Hypoplasia of the t... OMIM:617022
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... OMIM:615122
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Aarskog-Scott Syndrome
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... OMIM:305400
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidat... OMIM:618935
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:613987
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Cantu Syndrome
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... OMIM:239850
Wolfram Syndrome 1
Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic anemia, Hypothy... OMIM:222300
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal thumb morphology, Mitral valve prolapse, Cardiomegaly, Abnormal a... ORPHA:324410
Sézary Syndrome
Palmoplantar keratoderma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Hepatome... ORPHA:3162
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Pericar... ORPHA:2905
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... OMIM:620642
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal... OMIM:606367
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism ORPHA:97285
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Brachydactyly, Anemia, Abnormality of ... ORPHA:1451
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Cubitus valgus, Hypothyroidism, Lymphadenopathy OMIM:619750
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia OMIM:620514
Boutonneuse Fever
Abnormal skin morphology of the palm, Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thro... ORPHA:83313
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... OMIM:304790
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Overlapping fingers, Cardiomegaly, Left ventricu... ORPHA:79330
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ... ORPHA:457077
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, ... ORPHA:85450
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Ventricular septal de... OMIM:616897
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, T lymp... OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism... OMIM:614700
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... OMIM:619644
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Griscelli Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatom... ORPHA:381
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... OMIM:613179
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... ORPHA:1332
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disorder ORPHA:79456
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Bone-marr... OMIM:257200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:617591
H Syndrome
Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatospl... ORPHA:168569
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Mulibrey Nanism
Single transverse palmar crease, Cardiomegaly, Thickened cortex of long bones, Pericardial constr... OMIM:253250
Adult-Onset Still Disease
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Hepatomegaly, Myocarditis, Generalized l... ORPHA:829
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Abnormality of the lymph... ORPHA:2035
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... ORPHA:158061
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega... OMIM:612783
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Arachnodactyly, Talipes equinovarus, Thymus hyperplasia OMIM:619036
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Rhabdoid Tumor
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter ORPHA:142
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypothyroidis... OMIM:601005
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Bi... OMIM:306955
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly... ORPHA:79124
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Carcinoid tumor, Chronic noninfectious lymphadenopathy ORPHA:100084
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Legionnaires Disease
Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Lymphadenopathy, Myocarditis, Endocarditi... ORPHA:549
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Lymphadenopathy, Myocarditis, Thyroiditis ORPHA:139402
Scrub Typhus
Myocarditis, Splenomegaly, Lymphadenopathy ORPHA:83317
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Castleman Disease
Restrictive cardiomyopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy,... ORPHA:160
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Mitral valve prolapse, Bicuspid aortic valve, Talipes equinovar... OMIM:245600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Type I diabetes mellitus, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia... ORPHA:436159
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 Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Lymphadenopathy, Neutropenia, Thrombocytope... ORPHA:520
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia OMIM:617099
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Short fourth metatarsal, Cryptorchidism, Single transverse palmar... OMIM:618143
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardial effusion ORPHA:36412
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metatarsal cortices, Small hypothenar eminence, Thin metacarpal cortices, Slender long bone,... ORPHA:2463
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Lymphopenia, Metaphyseal sclerosis, T lymphocytopenia, Hypothyroidism, Lymphad... OMIM:607944
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Leukocytosis, Splenomegaly, Hepatomegaly, ... OMIM:615895
Cutaneous Neuroendocrine Carcinoma
Merkel cell skin cancer, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... ORPHA:50918
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly, Mediastin... ORPHA:809
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly,... ORPHA:158687
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Coombs-positive hem... ORPHA:83471
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Hypertrophic cardiomyopathy, Abnormal heart va... ORPHA:1517
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
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
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Papa Syndrome
Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Splenomegaly, Orchitis, Abnormal sacroiliac joint morphology, Abnormal myocardium m... ORPHA:32960
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233690
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hip dislocation, Hypoplastic scapulae, Varus deformity of hu... OMIM:252500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:267700
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... OMIM:214500
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha... ORPHA:100080
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Lymph... OMIM:603553
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Ventricular se... ORPHA:3472
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy, Clubbing of fingers ORPHA:199241
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia, Pe... ORPHA:93552
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal shoulder morphology, Hepatosplenomegaly, Abnormal hip joint morphology, Abnormal metatar... ORPHA:85408
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Increased circulating cortis... ORPHA:97287
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia ORPHA:540
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Carcinoid Syndrome
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu... ORPHA:100093
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... ORPHA:3384
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, ... OMIM:620376
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Hypoplastic scapulae, Finger swelling, Elevated circulating thyroid-stimu... OMIM:256040
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Q Fever
Granuloma, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Lymph... ORPHA:781
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Thrombocytopenia, Neutrope... OMIM:308230
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Delayed puberty, Lymphade... OMIM:614162
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Lymphopenia, Pancy... OMIM:615688
Refsum Disease, Classic
Cardiomegaly, Short fourth metatarsal, Cardiomyopathy OMIM:266500
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Right atrial enl... OMIM:620233
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Brucellosis
Granuloma, Liver abscess, Sacroiliac arthritis, Hypersplenism, Leukopenia, Leukocytosis, Splenome... ORPHA:1304
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia OMIM:260920
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia ORPHA:293173
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... ORPHA:331235
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Lymphadenop... ORPHA:1333
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... OMIM:615934
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Lymphadenopathy, Anemia, Mediasti... ORPHA:139411
Nephroblastoma
Lymphadenopathy ORPHA:654
Farber Disease
Short toe, Short finger, Hepatosplenomegaly, Abnormality of the wrist, Abnormality of the hand, L... ORPHA:333
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha... ORPHA:100082
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Glandular hypospadias, Cardiomegaly, Talipes equinovarus, Short femur OMIM:620306
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:608013
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Granuloma, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis... OMIM:306400
Coccidioidomycosis
Granuloma, Abnormality of the male genitalia, Abnormality of the spleen, Abscess, Abnormal long b... ORPHA:228123
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Cardiomegaly, Long toe, Long fing... OMIM:608836
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric... ORPHA:31150
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly OMIM:617713
Beck-Fahrner Syndrome
Cardiomegaly, Hip dysplasia, Ventricular septal defect OMIM:618798
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Coxa valga OMIM:230000
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Increased circulating ACTH l... ORPHA:100075
Graft Versus Host Disease
Hemophagocytosis, Hepatosplenomegaly, Dupuytren contracture, Limited elbow movement, Lymphadenopathy ORPHA:39812
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Iron deficie... ORPHA:37042
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary... ORPHA:2136
Malt Lymphoma
Anemia, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... OMIM:300967
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Waldenström Macroglobulinemia
Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils ORPHA:33226
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Proteus Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Hip dislocation, U... ORPHA:744
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Tibial bowing, Lymphadenopathy, Thrombocytopeni... ORPHA:499009
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Decreased proportion of CD8-positive T cells, Au... OMIM:615607
Ogden Syndrome
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Polycythe... OMIM:300855
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Adenoidi... ORPHA:581
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, Talipes equinovarus, Finger joi... OMIM:620371
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Lymphadenop... OMIM:619418
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Hip dislocation OMIM:300322
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Swelling of proximal interphalangeal joints, Cervical lymphadenopathy, He... ORPHA:3260
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Hepatomegaly OMIM:142680
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... OMIM:130650
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy, Hip contracture OMIM:620232
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Orchitis, Lymphadenopathy, Pericarditis ORPHA:342
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Limited elbow movemen... ORPHA:268
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Abnormal pulmonary valve morphology, Splenomegaly, Bowing of the l... ORPHA:667
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Biventric... OMIM:619573
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Neuroblastoma
Anemia, Elevated circulating catecholamine level, Lymphadenopathy, Thrombocytopenia ORPHA:635
Fucosidosis
Hepatomegaly, Hypothyroidism, Cardiomegaly ORPHA:349
Ileal Neuroendocrine Tumor
Increased serum serotonin, Iron deficiency anemia, Lymphadenopathy, Small intestine carcinoid, Tr... ORPHA:100078
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Arachnodactyly, Slender toe, Long toe, Camptodac... ORPHA:3063
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Pancytopenia, Pericardial effusion, Splenomegaly, Generalized... OMIM:181000
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Decreased serum insulin-like gro... OMIM:614921
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Pulmonary lymphangiomyomatosis, Abnormality of ... ORPHA:538
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Metacarpophal... ORPHA:97297
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Primary hypercortisolism, Chronic noninfectious lymphadenopathy, Adren... ORPHA:100079
Sarcoidosis
Enlarged lacrimal glands, Parotitis, Abnormal lymph node morphology, Leukopenia, Enlargement of p... ORPHA:797
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Decreased proportion of naive T cells, Fo... OMIM:619381
Liver Disease, Severe Congenital
Pancreatic hypoplasia, Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent for... OMIM:619991
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Adrenocor... ORPHA:116
Malakoplakia
Abnormality of the menstrual cycle, Prostate neoplasm, Follicular hyperplasia, Orchitis ORPHA:556
Crimean-Congo Hemorrhagic Fever
Parotitis, Adrenal insufficiency, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Orchitis,... ORPHA:99827
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly... ORPHA:51
Abetalipoproteinemia
Acanthocytosis, Reticulocytosis, Cardiomegaly, Hepatomegaly, Talipes equinovarus, Hypothyroidism,... ORPHA:14
Multiple Myeloma
Anemia, Splenomegaly, Lymphadenopathy ORPHA:29073
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Behçet Disease
Splenomegaly, Orchitis, Abnormal myocardium morphology, Lymphadenopathy, Endocarditis, Pericarditis ORPHA:117
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Pancytopenia, Pericardial effusion, Splenomegaly, Hepatomegaly, Hypo... OMIM:615846
Igg4-Related Kidney Disease
Lymphadenitis, Sialadenitis, Prostatitis, Abnormality of the anterior pituitary, Eosinophilia, Ly... ORPHA:449395
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Eosinophilia, Lymphad... ORPHA:449563
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Primary Sjögren Syndrome
Normocytic anemia, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helpe... ORPHA:289390
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Shoulder girdle muscle weak... ORPHA:273
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Expanded metatarsal... OMIM:182250
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... ORPHA:79078
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries ORPHA:137675
Williams Syndrome
Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries... ORPHA:904
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Blau Syndrome
Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Anemia, Abnormal salivary gland morpholog... ORPHA:90340
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Arachnodactyly ORPHA:91387
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100086
Cherubism
Submandibular lymph node enlargement OMIM:118400
African Trypanosomiasis
Abnormality of the menstrual cycle, Hepatosplenomegaly, Abnormality of circulating cortisol level... ORPHA:3385
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:536
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Leptospirosis
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Pericarditis ORPHA:509
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Plague
Lymphadenitis, Splenomegaly, Hepatomegaly, Enlarged mesenteric lymph node, Endocarditis, Abnormal... ORPHA:707
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Abnormal hip joint morphology, Pancreatic calcifi... ORPHA:51608
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280

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 Spata31f3

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 Spata31f3.

No publications found that use IMPC mice or data for Spata31f3.

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
Spata31f3em1(IMPC)Ccpcz Whole-gene deletion Mice, Tissue
Spata31f3tm44211(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Spata31f3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Spata31f3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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