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Gene: Tnfrsf21 MGI:2151075

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tumor necrosis factor receptor superfamily, member 21
Synonyms:
Death receptor 6,  TR7,  DR6

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tnfrsf21 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 Tnfrsf21 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Increased circ... OMIM:608106
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... OMIM:618534
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Candidiasis, Familial, 2
Increased circulating IgE level, Hypereosinophilia OMIM:212050
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... OMIM:618495
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... OMIM:607271
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Increased ... OMIM:209950
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Decreased circulating IgA level, Sclerosing cholangi... OMIM:308230
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding OMIM:227500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Splenomegaly, I... OMIM:614470
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... OMIM:619281
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:273800
Mental Retardation, Autosomal Recessive 4
Delayed myelination OMIM:611107
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... OMIM:618261
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level OMIM:618048
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Transient ischemic attack... ORPHA:36382
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Intraventricular hemorrhage, Abnormal bleedi... ORPHA:284388
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:173470
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreas... OMIM:240500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... OMIM:102700
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l... ORPHA:276
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... OMIM:605714
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM OMIM:242850
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Decreased circulating IgA level, T lymphocytopenia, Decreased lymphocyte proli... OMIM:606367
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Hemophilia A
Intracranial hemorrhage, Joint hemorrhage, Bleeding with minor or no trauma, Spontaneous hematoma... ORPHA:98878
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Increased circulating antibody level, Thrombocytopenia, Splenomegaly OMIM:615846
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Anemia, Increased circulating IgE level... OMIM:304790
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, ... OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Subdural hemorrhage, Joint hemor... ORPHA:169805
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Increased hepatitis B virus antibody... ORPHA:90003
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia, Vein of Galen aneurysmal malformation OMIM:618196
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Hepatitis, Decreased lymphocyte... ORPHA:169160
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... ORPHA:231160
Familial Afibrinogenemia
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding ORPHA:98880
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Subdural hemorrhage, Joint hemorrhage,... ORPHA:169802
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hyp... OMIM:617388
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Complete or near-complete absence o... OMIM:613496
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Caffey Disease
Increased circulating antibody level ORPHA:1310
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... ORPHA:331
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Thrombocytopenia 1
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... OMIM:313900
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased liver function, Decreased proportion of CD4-posit... OMIM:301045
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 23
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... OMIM:615816
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Pelizaeus-Merzbacher Disease
Sudanophilic leukodystrophy, Cerebral dysmyelination, Reduction of oligodendroglia, Abnormal CNS ... OMIM:312080
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Increased circulating IgG level, Acute hepatitis, ... ORPHA:2137
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia ORPHA:100025
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Increa... ORPHA:562639
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement ... ORPHA:91139
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... OMIM:613011
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... OMIM:618986
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... OMIM:615934
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology ORPHA:217260
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Stroke, Transient ... ORPHA:136
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... ORPHA:186
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Tachycardia, Cerebral ischemia... ORPHA:449285
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Splenomegaly, Macrove... OMIM:617303
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... ORPHA:99147
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... ORPHA:31825
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Panhypogammaglobulinemia, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Igg4-Related Submandibular Gland Disease
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increas... ORPHA:449432
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... OMIM:618108
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Multiple Myeloma
Increased circulating IgA level, Lymphadenopathy, Decreased circulating antibody level, Anemia, I... ORPHA:29073
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Decreased circulating antibody level, Exocrine pancreatic insuff... ORPHA:586
Tularemia
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anemia, Increased c... ORPHA:3392
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Stroke, Cerebral vasculitis ORPHA:140989
Acys Amyloidosis
Cerebral hemorrhage, Stroke ORPHA:100008
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3 ORPHA:329918
Immunodeficiency 36
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:616005
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE le... ORPHA:330015
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased proportion of CD3-positive T cells, Decreased circulat... ORPHA:275
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Rift Valley Fever
Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Elevated hep... ORPHA:319251
Polycythemia Vera
Cerebral hemorrhage, Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome OMIM:263300
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Stroke, Hypotension OMIM:263400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Ly... OMIM:617780
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Moyamoya phenomenon, Cerebral hemorrhage, Ischemic stroke ORPHA:280679
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morp... OMIM:300845
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... ORPHA:774
Vascular Hyalinosis
Subarachnoid hemorrhage, Hematochezia OMIM:277175
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia, Neu... ORPHA:37042
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Internal hemorrhage ORPHA:49566
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Cutaneous anergy, Panhypogammaglobulinemia, Viral h... OMIM:209920
Dengue Fever
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Hypote... ORPHA:99828
Familial Hyperaldosteronism Type Ii
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:404
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171420
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Abnormal cerebral vascular morphology, Subarac... ORPHA:53719
Prolidase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Impaired T cell function OMIM:201100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Menkes Disease
Intracranial hemorrhage OMIM:309400
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level, Increased circulating lactate de... ORPHA:723
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Familial Hyperaldosteronism Type I
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:403
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Immunodeficiency 47
Hepatomegaly, Decreased circulating total IgA, Hepatic fibrosis, Decreased circulating total IgG,... OMIM:300972
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia ORPHA:555905
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level, Lympho... OMIM:617591
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... OMIM:612301
Familial Hyperaldosteronism Type Iii
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Bone marrow hypocellularity, Anemia, Hepatosplenomeg... ORPHA:505248
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating... ORPHA:79078
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Dural Sinus Malformation
Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhage, Stroke, Subarachnoid hemorrhag... ORPHA:97339
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... OMIM:600376
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Increased circulating IgG4 level, Sclerosing cholangitis, Pancreatic fi... ORPHA:64744
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Complement deficiency, Eosinophilia ORPHA:449427
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteine... ORPHA:33226
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... ORPHA:94080
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hyperspleni... ORPHA:77259
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Elevated circulating aspartate aminotransferas... ORPHA:99829
Igg4-Related Kidney Disease
Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,... ORPHA:449395
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... ORPHA:400
Extracranial Carotid Artery Aneurysm
Hypertension, Cerebral ischemia, Stroke, Vasculitis, Arteritis, Subarachnoid hemorrhage ORPHA:494424
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopathy, Increased c... ORPHA:228123
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Brucellosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Lymphadenopathy, Anemia, Increased circul... ORPHA:1304
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Leukemia, Decreased circulating... OMIM:210900
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Ataxia-Telangiectasia
Decreased circulating IgA level, Leukemia, Defective B cell differentiation, Decreased circulatin... OMIM:208900
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... OMIM:242700
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis ORPHA:231625
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neut... OMIM:260920
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Melena, Muscle hemorrh... ORPHA:464321
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Reduced orotidine 5-prime ph... OMIM:258900
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Epistaxis, Cerebral ischemia, High-output congestive heart failure, Congestive he... ORPHA:137667
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Lymph node hypopl... OMIM:613179
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Second degree ... ORPHA:369929
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... ORPHA:79330
Trichinellosis
Increased circulating IgE level ORPHA:863
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination OMIM:618324
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Petechiae OMIM:617397
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Aplasia/Hypop... ORPHA:169105
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Decreased specific anti-polysaccharide antibody level, El... OMIM:614576
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Gastrointestinal h... ORPHA:324636
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Decreased T cell activation, Decreased proport... OMIM:242840
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:187300
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Mitral regurgitation, Epistaxis, Stroke, Hematochezia, Cerebral arteriovenous mal... OMIM:175050
Insulin-Resistance Syndrome Type B
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... ORPHA:2298
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Increased circulating IgG level, Splenom... ORPHA:99827
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6, Increased circulating IgA level, Lymphadenopat... OMIM:256040
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Anemia, Abnorm... ORPHA:284
Fetal Gaucher Disease
Intracranial hemorrhage ORPHA:85212
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Increased circulat... OMIM:610377
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Dec... ORPHA:183675
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171300
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Congestive heart... ORPHA:99901
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris OMIM:177850
Scleromyxedema
Paraproteinemia ORPHA:167635
Q Fever
Hepatomegaly, Cryoglobulinemia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Abnormality of ... ORPHA:781
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Recurrent intrapulmonary hemorr... ORPHA:906
Alg12-Cdg
B lymphocytopenia, Complete or near-complete absence of specific antibody response to tetanus vac... ORPHA:79324
Neurocutaneous Melanocytosis
Intracranial hemorrhage ORPHA:2481
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Gaucher Disease Type 3
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocy... ORPHA:77261
Hypophosphatasia, Infantile
Intracranial hemorrhage OMIM:241500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... ORPHA:276621
Poems Syndrome
Lymphadenopathy, Thrombocytosis, Increased circulating antibody level, Polycythemia ORPHA:2905
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Riddle Syndrome
Decreased circulating IgA level, Generalized lymphadenopathy, Decreased circulating IgG level, De... ORPHA:420741
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension OMIM:618886
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Cirrhosis, Decreased circu... ORPHA:90363
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polysplenia, Splenomegaly ORPHA:373
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypertension, Aortic regurgitation, Stroke, Transient ischemic attack, Hypovolemia, Subarachnoid ... ORPHA:91387
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Decreased circulating IgA level, Decreased circul... OMIM:212065
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Decreased circulating ... ORPHA:125
Hemorrhagic Fever-Renal Syndrome
Ecchymosis, Hypertension, Shock, Intracranial hemorrhage, Petechiae, Palpitations, Subconjunctiva... ORPHA:340
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Absence of CD8-positive T cells, Hepat... ORPHA:911
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Decreased lymphocyte pro... ORPHA:83471
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Subconjunctival hemorrhage, Epistaxis, Abnormal bleeding, Bruisi... ORPHA:464329
Lissencephaly 8
Abnormal myelination OMIM:617255
Al Amyloidosis
Hepatomegaly, Anemia, Abnormality of the liver, Increased circulating antibody level, Howell-Joll... ORPHA:85443
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Increased circulating antibody level, Ge... OMIM:181000
Classic Homocystinuria
Hypertension, Intracranial hemorrhage, Cerebral ischemia, Subcutaneous hemorrhage, Gastrointestin... ORPHA:394
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... ORPHA:29072
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... ORPHA:1830
Immunodeficiency 58
Decreased circulating antibody level, Decreased T cell activation, Decreased specific antibody re... OMIM:618131
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Congestive heart failure, Aortic val... ORPHA:363618
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Cysticercosis
Increased circulating antibody level ORPHA:1560
Parkes Weber Syndrome
High-output congestive heart failure, Bounding pulse, Abnormal bleeding, Subarachnoid hemorrhage,... ORPHA:90307
Mirage Syndrome
Intracranial hemorrhage, Petechiae OMIM:617053
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Intracranial hemorrhage, Angina pectoris, Subcutaneous hemorrhage ORPHA:109
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... ORPHA:3132
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Gliosis, Abnormal myelination ORPHA:280210
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... ORPHA:91500
Primary Sjögren Syndrome
Chronic active hepatitis, Normocytic anemia, Thrombocytopenia, Cryoglobulinemia, Leukopenia, Decr... ORPHA:289390
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia OMIM:608836
Hellp Syndrome
Prolonged prothrombin time, Internal hemorrhage, Hypotension, Cerebral hemorrhage ORPHA:244242
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage ORPHA:90795
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Intracranial hemorrhage, Vasculitis in the skin, Raynaud phenomenon, Tran... ORPHA:3260
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Aplastic anemia, Acute lymphobl... OMIM:223370
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Hypereosinophilia, Increased ci... OMIM:619472
Postinfectious Vasculitis
Cryoglobulinemia, Increased circulating IgA level, Increased circulating antibody level, Viral he... ORPHA:48435
Lysinuric Protein Intolerance
Leukopenia, Decreased circulating antibody level, Anemia, Complement deficiency, Increased circul... ORPHA:470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Arterial rupture, B... ORPHA:536545
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arterial hypertension, Stroke, Pulmonary e... ORPHA:79282
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Menkes Disease
Gastrointestinal hemorrhage, Intracranial hemorrhage, Spontaneous hematomas ORPHA:565
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Hutchinson-Gilford Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... ORPHA:740
Gaucher Disease
Hepatomegaly, Hepatitis, Anemia, Splenomegaly, Cirrhosis, Increased circulating antibody level, P... ORPHA:355
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage OMIM:619055
Juvenile Polyposis Syndrome
Epistaxis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Extrahepatic portal... ORPHA:2929
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Heart murmur ORPHA:163979
Acute Liver Failure
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal... ORPHA:90062
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Nelson Syndrome
Hypertension, Intracranial hemorrhage ORPHA:199244
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Increased circ... ORPHA:99826
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Hepatomegaly, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Seve... ORPHA:83617
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Increased blood pressure, Stroke, Retinal hemorrhage ORPHA:90324
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Increased circulating interleukin 6, Abnormality of chemokine secret... ORPHA:544482
Superficial Siderosis
Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma, Subarachnoid hemorrhage ORPHA:247245
Arachnoid Cyst
Subarachnoid hemorrhage ORPHA:2356
Hydranencephaly
Abnormal cerebral artery morphology, Antenatal intracerebral hemorrhage ORPHA:2177
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Phace Syndrome
Abnormal cerebral artery morphology, Cerebral arteriovenous malformation ORPHA:42775
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Abnormal myelination ORPHA:34527
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Meningioma
Cerebral hemorrhage, Syncope ORPHA:2495
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage ORPHA:221061
Acute Transverse Myelitis
Orthostatic hypotension, Hypertension, Subarachnoid hemorrhage ORPHA:139417
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination ORPHA:442835
Osteogenesis Imperfecta
Cerebral hemorrhage, Aortic regurgitation, Bruising susceptibility ORPHA:666
Koolen-De Vries Syndrome Due To A Point Mutation
Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis ORPHA:363958
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Corneal neovascularization, Ischemic stroke OMIM:175780
Monosomy 18Q
Astrocytoma, Abnormal myelination, Patent ductus arteriosus ORPHA:1600
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Digeorge Syndrome
Abnormality of the thymus, Cholelithiasis, Impaired T cell function OMIM:188400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Astrocytosis ORPHA:309854
Loeys-Dietz Syndrome 3
Atrial fibrillation, Mitral regurgitation, Tortuous cerebral arteries, Dilatation of the cerebral... OMIM:613795
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level, Absent gallbladder ORPHA:500150
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropathy ORPHA:466768
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Gliosis, Abnormal myelination, Delayed myelination ORPHA:404454
Sarcoidosis
Hemolytic anemia, Leukopenia, Increased T cell count, Anemia, Decreased liver function, Hepatic f... ORPHA:797
Pmm2-Cdg
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Angina pectoris ORPHA:79318
Degcags Syndrome
Abnormal myelination, Patent ductus arteriosus OMIM:619488
Orofaciodigital Syndrome Type 14
Abnormal myelination, Patent ductus arteriosus ORPHA:434179

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 Tnfrsf21

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 Tnfrsf21.

No publications found that use IMPC mice or data for Tnfrsf21.

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