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Gene: Traf2 MGI:101835

Gene Summary

Name:

TNF receptor-associated factor 2

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating chloride level	Traf2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.58×10^-06
decreased alpha-beta T cell number	Traf2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	0.00
decreased CD8-positive, alpha-beta T cell number	Traf2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Traf2^{tm1a(EUCOMM)Wtsi}	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 Skull Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Traf2^{tm1a(EUCOMM)Wtsi}
HET, Female, WTSI

View all 164 images

Traf2^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

Traf2^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Traf2^{tm1a(EUCOMM)Wtsi}
tail skin, WT, Female, WTSI

Traf2^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Traf2 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.

Human diseases associated with Traf2 (0 diseases)
Human diseases predicted to be associated with Traf2 (535 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Traf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin...	OMIM:617514
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Cellulitis, Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating I...	OMIM:615513
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l...	ORPHA:100024
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Skeletal muscle atrophy, Lower limb muscle weak...	OMIM:620632
Aids Wasting Syndrome	Cachexia, Weight loss, Skeletal muscle atrophy	ORPHA:90081
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ...	OMIM:615401
Nuchal Bleb, Familial	Stillbirth	OMIM:257350
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lack of T cell function, Increased circ...	ORPHA:277
Immunodeficiency 27A	Hypoalbuminemia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly,...	OMIM:209950
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,...	OMIM:608971
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy	ORPHA:1216
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Wolman Disease	Adrenal insufficiency, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells	ORPHA:75233
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum mo...	ORPHA:83469
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Reduced natural killer cell activity, Decreas...	OMIM:300400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:611926
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In...	OMIM:619313
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality...	ORPHA:33355
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio...	ORPHA:169154
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m...	OMIM:613501
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin...	OMIM:607271
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Hyperhidrosis, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Majeed Syndrome	Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem...	ORPHA:77297
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Leishmaniasis	Hypoalbuminemia, Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Increase...	ORPHA:507
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cellulitis...	OMIM:618986
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Weight loss, Chronic noninfectious lymphadenopathy, Elevated ...	ORPHA:100083
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinem...	OMIM:152800
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia	ORPHA:93941
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Foot dorsiflexor weakness, Ragged-red muscle fibers, Abnormality of the ex...	ORPHA:298
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:157973
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa...	OMIM:618048
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ragged-red muscle fibers	OMIM:613662
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Decreased circulating antibody level, Splenomegaly, Lym...	ORPHA:397596
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Cachexia, Neutropenia, Abnormal blood ion concentration, Autoimm...	ORPHA:37042
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Aredyld Syndrome	Abnormal dental enamel morphology, Splenomegaly, Cachexia, Hepatomegaly, Lipoatrophy	ORPHA:1133
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system,...	ORPHA:54251
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Cachexia, Splenomegaly	ORPHA:2930
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Diencephalic Syndrome	Cachexia, Hyperhidrosis, Decreased body weight	ORPHA:1672
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatic steatosis, Myopathy, Elevated circulating creatine kinase concen...	ORPHA:42
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat...	OMIM:600802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,...	OMIM:601457
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Reduced natural killer cell activity, Decreased ci...	OMIM:619281
Mcdonough Syndrome	Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Cryptorchidism	ORPHA:2471
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Reduced subcutaneous adipose tissue, Hyperlipoproteinem...	ORPHA:1979
Whipple Disease	Splenomegaly, Myositis, Hepatomegaly, Hyponatremia, Cachexia, Hypothyroidism, Anemia, Mediastinal...	ORPHA:3452
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou...	OMIM:618108
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen...	OMIM:242700
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Riboflavin Transporter Deficiency	Cachexia, Facial palsy, Limb muscle weakness, Skeletal muscle atrophy	ORPHA:97229
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:42642
Splenogonadal Fusion With Limb Defects And Micrognathia	Stillbirth	OMIM:183300
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Myositis, Hep...	OMIM:617591
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Moynahan Syndrome	Cachexia	ORPHA:2574
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysac...	OMIM:606367
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasi...	ORPHA:90362
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Christianson Syndrome	Cachexia, Arthrogryposis multiplex congenita, Decreased muscle mass	ORPHA:85278
Ataxia-Telangiectasia	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Polycy...	ORPHA:100
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Renpenning Syndrome	Decreased testicular size, Cachexia, Skeletal muscle atrophy	ORPHA:3242
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level,...	OMIM:102700
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis, Hepatomegaly	ORPHA:391
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Chronic Beryllium Disease	Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration	ORPHA:1933
Neuropathy, Congenital Hypomyelinating, 3	Facial diplegia, Neonatal death, Cachexia, Hypomimic face, Limb joint contracture, Flexion contra...	OMIM:618186
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia	OMIM:175500
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Eosinophilic Fasciitis	Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, We...	ORPHA:3165
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hyperkalemia, Failure to thrive, Hepatosplenomegaly, Hypersplenism, Primary adr...	ORPHA:275761
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Failure to thrive in infancy, Cachexia, Hip contracture	OMIM:616801
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Pulmonary Blastoma	Weight loss	ORPHA:64741
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Flynn-Aird Syndrome	Cachexia, Primary adrenal insufficiency, Skeletal muscle atrophy	ORPHA:2047
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo...	ORPHA:911
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Myos...	OMIM:615934
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
X-Linked Agammaglobulinemia	Cellulitis, Hepatitis, Failure to thrive, Hypocalcemia, Abnormality of the lymphatic system, Agam...	ORPHA:47
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impai...	OMIM:613179
Mirage Syndrome	Lymphopenia, Decreased testicular size, Leukopenia, Adrenal insufficiency, Cryptorchidism, Decrea...	OMIM:617053
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Panniculitis, Complete or near-complete abse...	OMIM:301081
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Microsporidiosis	Lymphadenitis, Abnormality of the parathyroid gland, Hepatitis, Brain abscess, Abnormality of the...	ORPHA:2552
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Idiopathic Achalasia	Weight loss, Decreased circulating prealbumin concentration	ORPHA:930
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level...	OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hyperbilirubinemia...	ORPHA:400
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal upper limb amyotrop...	ORPHA:98897
Felty Syndrome	Cellulitis, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomega...	ORPHA:47612
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Wilson Disease	Proximal muscle weakness in lower limbs, Hepatitis, Failure to thrive, Acute hepatitis, Hepatic s...	ORPHA:905
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l...	ORPHA:803
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:613090
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Failure to thr...	ORPHA:572
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C...	ORPHA:371364
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis	ORPHA:86884
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Pseudomyxoma Peritonei	Hernia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Cyclic Neutropenia	Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Per...	ORPHA:2686
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia, Facial palsy, Atrophic scars	OMIM:182410
Stormorken Syndrome	Howell-Jolly bodies, Myopathy, Elevated circulating creatine kinase concentration, Thrombocytopen...	OMIM:185070
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R...	ORPHA:300605
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Hypoproteinemia	ORPHA:1116
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o...	ORPHA:79124
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia	ORPHA:1438
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, Hypothyroidism, B lymphocytopenia	OMIM:619851
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss, Elevated circulati...	ORPHA:2902
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Camurati-Engelmann Disease	Skeletal muscle atrophy, Slender build, Leukopenia, Splenomegaly, Abnormal subcutaneous fat tissu...	ORPHA:1328
Macrocephaly/Autism Syndrome	Lymphopenia, Obesity, Decreased circulating antibody level, Large for gestational age, Splenomega...	OMIM:605309
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa...	ORPHA:97289
Tetrasomy 12P	Cachexia, Hypohidrosis	ORPHA:884
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia	OMIM:620443
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Acute Promyelocytic Leukemia	Leukopenia, Pancytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen...	ORPHA:520
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein...	ORPHA:2070
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Immunodeficiency 31C	Skeletal muscle atrophy, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia,...	OMIM:614162
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Oculogastrointestinal Muscular Dystrophy	Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy, Hyperhidrosis	ORPHA:84142
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Decreased testicular size, Obesity, Cryptorc...	ORPHA:813
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Camptodactyly of finger	ORPHA:2774
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Weight loss, Lymphadenopathy	ORPHA:2221
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Castleman Disease	Increased circulating interleukin 6 concentration, Follicular hyperplasia, Generalized lymphadeno...	ORPHA:160
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy, Hyperhidrosis	ORPHA:99868
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ...	OMIM:243150
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c...	ORPHA:449400
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Myo...	OMIM:612541
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Failure to thrive	OMIM:602361
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Abnormal skeletal muscle mor...	ORPHA:284
Anaplastic Thyroid Carcinoma	Goiter, Abnormal skeletal muscle morphology, Weight loss, Lymphadenopathy, Nodular goiter	ORPHA:142
Insulin Autoimmune Syndrome	Weight loss, Increased circulating antibody level	ORPHA:411593
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Eosinophilia, Lymphocytosis, Weight loss, Lymphadenopathy, Thyroiditis	ORPHA:139402
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia	OMIM:618624
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Icf Syndrome	Umbilical hernia, Lymphopenia, Anemia, Macroglossia, Abnormality of neutrophils, Decreased circul...	ORPHA:2268
Chronic Hiccup	Weight loss, Abnormality of the diaphragm	ORPHA:396
19Q13.11 Microdeletion Syndrome	Cachexia, Cryptorchidism, Failure to thrive, Supernumerary nipple	ORPHA:217346
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Common Variable Immunodeficiency	Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Decreased circulating antibo...	ORPHA:1572
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, Macrogloss...	OMIM:242860
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Subcutaneous lipoma, Cachexia, Anemia, Refractory anemia, Patent ductus arteriosus	ORPHA:79076
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Hypocalcemic tetany...	ORPHA:83471
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Biliary tract abnormality, Neoplasm of the liver, Cir...	ORPHA:90003
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hernia, Hepatomegaly, Weight loss, Anemia, Patent ductus arteriosus	ORPHA:1842
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Hyperhidros...	ORPHA:1332
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Decreased testicular size, Obesity, Inguinal hernia, Cachexia, Hyperhidr...	ORPHA:85293
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Increased circulating IgA level, Wei...	ORPHA:29073
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko...	ORPHA:53035
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia...	OMIM:617237
Xfe Progeroid Syndrome	Hypoalbuminemia, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enam...	OMIM:610965
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Autosomal Dominant Severe Congenital Neutropenia	Cellulitis, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono...	ORPHA:486
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Panniculitis, Splenomegaly	ORPHA:33577
Rett Syndrome	Cachexia, Skeletal muscle atrophy	OMIM:312750
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Hyponatremia, Panc...	ORPHA:549
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Distal amyotrophy, Slender build, Ragged-red mus...	OMIM:603041
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex...	OMIM:620005
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Increased circulating ferritin concentration, Portal hypertension, Splenom...	ORPHA:465508
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia	ORPHA:90060
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Decreased HDL cholesterol concentration, Elevated circulating cre...	ORPHA:85450
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Primary adrenal insufficiency, Splen...	ORPHA:2905
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp...	OMIM:300755
X-Linked Creatine Transporter Deficiency	Cachexia, Abnormal circulating creatine concentration	ORPHA:52503
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Failure to thrive, Impaire...	ORPHA:1830
Nijmegen Breakage Syndrome	Acute leukemia, Skeletal muscle atrophy, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia,...	ORPHA:647
Infantile Krabbe Disease	Cachexia, Failure to thrive, Shoulder girdle muscle weakness	ORPHA:206436
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:602522
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B l...	OMIM:601495
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Hyperhidrosis, T...	ORPHA:71493
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Umbilical her...	ORPHA:800
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Decreased lymphocyte proliferation in respons...	OMIM:619381
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Budd-Chiari Syndrome	Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, Hepatomega...	ORPHA:131
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutro...	OMIM:616395
Pneumocystosis	Abnormal neutrophil count, Weight loss, Increased circulating antibody level	ORPHA:723
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Abnormal lymphocyte physiology, Weigh...	ORPHA:99867
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Hashimoto thyroiditis, Cachexia, Lipoma	ORPHA:109
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Graves disease, Adrenocortico...	ORPHA:199299
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Glucocortocoid-insensitive p...	ORPHA:171876
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Weight loss, Acholic stools, ...	ORPHA:65682
Immunodeficiency 23	Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropen...	OMIM:615816
Microphthalmia, Syndromic 9	Multilobulated spleen, Congenital diaphragmatic hernia, Cryptorchidism, Neonatal death, Inguinal ...	OMIM:601186
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,...	ORPHA:699
Cockayne Syndrome	Congenital contracture, Skeletal muscle atrophy, Contractures of the large joints, Splenomegaly, ...	ORPHA:191
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Rhabdomyolysis, Hypokalemia, Weight loss, Hyperthyroidism	OMIM:188580
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro...	ORPHA:293978
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Por...	OMIM:619487
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss	ORPHA:2198
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Increased circulating ...	OMIM:301074
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Bartter Syndrome Type 4	Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	ORPHA:89938
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Focal Myositis	Myositis, Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Failure to thrive, Lymphopenia, Leukopenia, De...	OMIM:242840
Fusariosis	Cellulitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia, Abnormal...	ORPHA:228119
Syndromic Diarrhea	Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ...	ORPHA:84064
Brucellosis	Hypersplenism, Weight loss, Hepatomegaly, Elevated circulating C-reactive protein concentration, ...	ORPHA:1304
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula...	ORPHA:247353
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Malt Lymphoma	Weight loss, Hyperhidrosis, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:52417
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4...	OMIM:275000
Trisomy 18	Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Hernia, Cachexia, Ompha...	ORPHA:3380
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Systemic Capillary Leak Syndrome	Pancreatitis, Leukocytosis, Weight loss	ORPHA:188
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunog...	OMIM:242900
Peripheral Primitive Neuroectodermal Tumor	Lower limb muscle weakness, Elevated carcinoma antigen 125 level, Weight loss, Pancreatitis, Tort...	ORPHA:370348
Isolated Succinate-Coq Reductase Deficiency	Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, Skeletal myopathy, Left ven...	ORPHA:3208
Holocarboxylase Synthetase Deficiency	Weight loss, Hyperammonemia, Thrombocytopenia	ORPHA:79242
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro...	ORPHA:760
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I...	OMIM:241200
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess	ORPHA:67
Takayasu Arteritis	Anemia, Weight loss, Hyperhidrosis	ORPHA:3287
Avian Influenza	Hypoalbuminemia, Hepatitis, Lymphopenia, Leukopenia, Rhabdomyolysis, Elevated circulating creatin...	ORPHA:454836
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Hypokalemia, Weight loss, Increased circulating free T4 concentration, Hyperthyroidism, I...	OMIM:613239
Neuroblastoma	Increased circulating ferritin concentration, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:635
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Hypertriglyc...	OMIM:617575
Pyomyositis	Testicular teratoma, Leukocytosis, Myositis, Weight loss, Recurrent cutaneous abscess formation	ORPHA:764
Gm1 Gangliosidosis	Failure to thrive, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Inguinal hernia, Ap...	ORPHA:354
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Biliary cirrhosis, Hypotriglyceridemia, Abnormal circulating lipid concentration...	ORPHA:2298
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Splenomegaly, Eosinophilia, C...	ORPHA:75565
Erythrokeratodermia Variabilis	Weight loss, Abnormal testis morphology	ORPHA:317
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute...	ORPHA:319218
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Abnormal salivary gland morphology, Increased circulating IgG4 level, Abnormality of ...	ORPHA:79078
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Loeffler Endocarditis	Eosinophilia, Weight loss, Left ventricular hypertrophy	ORPHA:75566
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Increased circulating...	ORPHA:85443
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Myositis, Lymphadenopathy, Thrombocyt...	ORPHA:93552
Proteus Syndrome	Thymus hyperplasia, Decreased muscle mass, Neoplasm of the thymus, Myofibrillar myopathy, Abnorma...	ORPHA:744
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Lipid accumulation in hepatocytes, Hepat...	ORPHA:20
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hepatic stea...	OMIM:615846
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Po...	ORPHA:171
Whim Syndrome	Cellulitis, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, D...	ORPHA:51636
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Igg4-Related Kidney Disease	Lymphadenitis, Decreased retinol-binding protein level, Abnormal mesentery morphology, Increased ...	ORPHA:449395
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Hepatomegaly	ORPHA:134
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Celiac Disease, Susceptibility To, 1	Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Macrocytic anemia, Iron deficie...	OMIM:212750
Immunodeficiency 87 And Autoimmunity	Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Autoimmune hemolytic...	OMIM:619573
Cowden Syndrome 1	Subcutaneous lipoma, Goiter, Lymphopenia, Decreased circulating antibody level, Ovarian carcinoma...	OMIM:158350
Huntington Disease-Like 2	Weight loss	OMIM:606438
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Abnormal circulating IgM level, Hypocholesterolemia, Complete...	ORPHA:79324
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive	ORPHA:178029
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620365
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enthesitis, Anemia, Flexion contracture	ORPHA:85408
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Skeletal muscle atrophy	ORPHA:1969
Bronchial Neuroendocrine Tumor	Increased circulating cortisol level, Chronic noninfectious lymphadenopathy, Weight loss, Elevate...	ORPHA:97287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:324964
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Inguinal hernia, Agammaglobulinemia, Anemia, Abnormality of the pancreas	ORPHA:935
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts	OMIM:617425
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased...	OMIM:181000
Vipoma	Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ...	ORPHA:97282
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100080
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Hypothyroidism, Lymphadenopathy, Neutropenia, Autoimmune thromboc...	OMIM:607944
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Monoclonal elevation of IgG, Chronic ly...	ORPHA:91139
Somatostatinoma	Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ...	ORPHA:97283
Rat-Bite Fever	Lymphadenitis, Parotitis, Weight loss, Pancreatitis, Anemia, Tendonitis	ORPHA:31205
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepato...	OMIM:613471
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Hypercalcemia, Infantile, 1	Weight loss, Hypercalcemia, Failure to thrive	OMIM:143880
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tract obstru...	ORPHA:100085
Addison Disease	Normocytic anemia, Thymoma, Failure to thrive, Primary adrenal insufficiency, Thiamine-responsive...	ORPHA:85138
Seckel Syndrome	Abnormal dental enamel morphology, Cachexia	ORPHA:808
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi...	ORPHA:100086
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating int...	ORPHA:391487
Neuroblastoma, Susceptibility To, 1	Anemia, Weight loss, Failure to thrive	OMIM:256700
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating cortisol level...	ORPHA:97261
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index	ORPHA:399
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Lymphoid Interstitial Pneumonia	Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Mediastinal lymph...	ORPHA:79128
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Low plasma citrul...	ORPHA:95427
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100075
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100082
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Abnormal muscle fiber morphology, Lower limb muscle weaknes...	ORPHA:79102
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
Hennekam Syndrome	Camptodactyly of finger, Lymphopenia, Decreased circulating antibody level, Splenomegaly, Hypocal...	ORPHA:2136
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele...	OMIM:607459
Polymyositis	Chondrocalcinosis, Elevated circulating creatine kinase concentration, Weight loss, Abnormal musc...	ORPHA:732
Glucagonoma	Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ...	ORPHA:97280
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Generalized lymphadenopathy, We...	ORPHA:420741
Non-Functioning Paraganglioma	Weight loss, Hypercalcemia, Episodic hyperhidrosis	ORPHA:94080
Primary Sjögren Syndrome	Normocytic anemia, Thyroiditis, Biliary cirrhosis, Xerostomia, Parotitis, Chronic active hepatiti...	ORPHA:289390
Khan-Khan-Katsanis Syndrome	Failure to thrive, Lymphopenia, Corneal scarring, Patent ductus arteriosus after premature birth,...	OMIM:618460
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Primary adrenal insufficiency, Hyperuricemia, Hyponatremia,...	ORPHA:95409
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Skeletal muscle atrophy, Failure to thrive, Hypoma...	OMIM:219800
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Failure to thrive, Adrenal insufficiency, Congenital hypothyroidism, Crypt...	ORPHA:361
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating cortisol level...	ORPHA:97278
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Eosinophilia, Weight loss	ORPHA:183
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo...	ORPHA:99826
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Sarcoidosis	Abnormal lymph node morphology, Parotitis, Leukopenia, Hypercalcemia, Enlargement of parotid glan...	ORPHA:797
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Contracture of the distal interphalange...	ORPHA:83617
Marfan Syndrome	Slender build, Cachexia, Skeletal muscle atrophy, Inguinal hernia	ORPHA:558
Mucolipidosis Type Ii	Umbilical hernia, Hepatosplenomegaly, Diastasis recti, Splenomegaly, Hip contracture, Knee flexio...	ORPHA:576
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss, Elevated circulating C-reactive protein concentration	OMIM:180300
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
8P23.1 Microdeletion Syndrome	Obesity, Congenital diaphragmatic hernia, Cryptorchidism, Weight loss, Patent ductus arteriosus	ORPHA:251071
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin...	ORPHA:913
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Toxic Epidermal Necrolysis	Weight loss, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
Perry Syndrome	Weight loss	ORPHA:178509
Adrenocortical Carcinoma	Increased circulating cortisol level, Hyperaldosteronism, Hypokalemia, Increased body weight, Ele...	ORPHA:1501
Stickler Syndrome	Skeletal muscle atrophy, Abnormal dental enamel morphology, Slender build, Cachexia, Macroglossia	ORPHA:828
Systemic Lupus Erythematosus	Leukopenia, Weight loss, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia	ORPHA:536
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Stevens-Johnson Syndrome	Weight loss, Pancreatitis, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:36426
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Pancreatic adenocarcinoma, ...	ORPHA:99889
Giant Cell Arteritis	Weight loss, Mediastinal lymphadenopathy, Hyperhidrosis	ORPHA:397
Pemphigus Vulgaris	Atypical scarring of skin, Weight loss, Recurrent cutaneous abscess formation	ORPHA:704
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Familial Colorectal Cancer Type X	Pituitary adenoma, Pancreatic adenocarcinoma, Weight loss, Abnormal circulating creatine concentr...	ORPHA:440437
Solitary Fibrous Tumor	Hypophosphatemic rickets, Neoplasm of the liver, Weight loss, Reduced C-peptide level, Abnormal p...	ORPHA:2126
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Hashimoto thyroiditis, Weight l...	ORPHA:49041
Cushing Disease	Increased circulating cortisol level, Lymphopenia, Dorsocervical fat pad, Leukocytosis, Adrenal h...	ORPHA:96253
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle...	OMIM:164310
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, T lymphocytopenia, Dysgammaglobulinemia, Thrombocytopenia, B lymphoc...	OMIM:251260
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Parathyroid Carcinoma	Chondrocalcinosis, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphol...	ORPHA:143
Short Syndrome	Abnormal dental enamel morphology, Weight loss, Inguinal hernia, Lipodystrophy	ORPHA:3163
Granulomatosis With Polyangiitis	Weight loss, Granulomatosis	OMIM:608710
Nocardiosis	Cellulitis, Brain abscess, Lymphadenitis, Cutaneous abscess, Peritonitis, Weight loss, Thyroiditi...	ORPHA:31204
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Weight loss, Neutropenia	ORPHA:79430
Osteosarcoma	Weight loss	ORPHA:668
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Weight loss, Hypercalcemia, Extraadrenal pheochromocytoma, Episodic hyp...	ORPHA:276621
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Behçet Disease	Splenomegaly, Orchitis, Myositis, Weight loss, Pancreatitis, Lymphadenopathy	ORPHA:117
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Congenital Tufting Enteropathy	Cholestatic liver disease, Weight loss, Failure to thrive	ORPHA:92050
Cap Polyposis	Weight loss	ORPHA:160148
Yao Syndrome	Weight loss, Xerostomia	OMIM:617321
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Multiple Endocrine Neoplasia Type 1	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary thyrotropic cel...	ORPHA:652
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Oromandibular Dystonia	Weight loss, Torticollis	ORPHA:93958
Liposarcoma	Weight loss	ORPHA:69078
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoulder girdle musc...	ORPHA:2020
Choreoacanthocytosis	Peroneal muscle atrophy, Distal amyotrophy, Muscle fiber atrophy, Acanthocytosis, Splenomegaly, M...	ORPHA:2388
Erdheim-Chester Disease	Anemia, Weight loss, Hyperhidrosis, Retroperitoneal fibrosis	ORPHA:35687
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Bullous Pemphigoid	Weight loss	ORPHA:703
Fanconi Anemia	Umbilical hernia, Leukopenia, Abnormality of the liver, Cryptorchidism, Weight loss, Thrombocytop...	ORPHA:84
Fatal Familial Insomnia	Weight loss, Hyperhidrosis	OMIM:600072
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss	ORPHA:309031
Granulomatosis With Polyangiitis	Prostatitis, Weight loss, Pancreatitis, Granulomatosis, Elevated circulating C-reactive protein c...	ORPHA:900
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Weight loss, Lower-limb joint contracture, Reduced panc...	ORPHA:99885
Perry Syndrome	Weight loss	OMIM:168605
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91347
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Hereditary Pheochromocytoma-Paraganglioma	Adrenal pheochromocytoma, Weight loss, Hypercalcemia, Extraadrenal pheochromocytoma, Episodic hyp...	ORPHA:29072
Postinfectious Vasculitis	Elevated haptoglobin level, Increased circulating antibody level, Orchitis, Abnormal circulating ...	ORPHA:48435
Norrie Disease	Cachexia, Cryptorchidism, Failure to thrive	ORPHA:649
Dermatomyositis	Cellulitis, Abnormal eosinophil morphology, Chondrocalcinosis, Inflammatory myopathy, Elevated ci...	ORPHA:221
Juvenile Dermatomyositis	Elevated circulating creatine kinase concentration, Myositis, Weight loss, Calcinosis, Elevated c...	ORPHA:93672
Gerstmann-Straussler Disease	Weight loss, Lower limb muscle weakness	OMIM:137440
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Chorioretinal scar, Elevated circulating creatinine concentration, Reduced hem...	ORPHA:91500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia	OMIM:618223
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Lynch Syndrome	Pituitary adenoma, Pancreatic adenocarcinoma, Salivary gland neoplasm, Neoplasm of the liver, Wei...	ORPHA:144
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Malignant Atrophic Papulosis	Peritonitis, Weight loss	ORPHA:679
Acrodermatitis Enteropathica	Weight loss, Failure to thrive	ORPHA:37
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
African Trypanosomiasis	Hepatosplenomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal prolactin level, Hepatom...	ORPHA:3385
Hereditary Late-Onset Parkinson Disease	Weight loss, Hypomimic face	ORPHA:411602
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Increased circulating surfactant protein level, Testicular microlithiasis, Weight loss	ORPHA:60025
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive	ORPHA:1018
Chronic Graft Versus Host Disease	Xerostomia, Fasciitis, Pancytopenia, Weight loss, Flexion contracture	ORPHA:99921
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Goodpasture Syndrome	Anemia, Weight loss, Increased blood urea nitrogen	OMIM:233450
Reactive Arthritis	Weight loss, Enthesitis	ORPHA:29207
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss, Absence of subcutaneous fat	ORPHA:740

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 Traf2

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 Traf2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Traf2^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Traf2^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Traf2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Traf2^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Traf2^{tm1a(EUCOMM)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Traf2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Traf2 MGI:101835

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

DSS Histology

Spleen Immunophenotyping

X-ray

Anti-nuclear antibody assay

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Traf2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data