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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
decreased CD8-positive, alpha-beta T cell number	Traf2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	0.00
increased circulating chloride level	Traf2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.58×10^-06
preweaning lethality, complete penetrance	Traf2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased alpha-beta T cell number	Traf2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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DSS Histology

Images

8 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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Eye Morphology

Images Slit Lamp

1 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

4 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 (520 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
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Cd8 Deficiency, Familial	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, Partial Combined, With Absence Of Hla Determinants And 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	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
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
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c...	OMIM:615513
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul...	ORPHA:100024
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o...	ORPHA:277
Nuchal Bleb, Familial	Stillbirth	OMIM:257350
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati...	OMIM:620282
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insufficiency, Anemia	ORPHA:75233
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu...	OMIM:300400
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De...	ORPHA:169154
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur...	ORPHA:33355
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis	ORPHA:86893
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Majeed Syndrome	Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra...	ORPHA:77297
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss, Chronic noninfectious lymphadenopathy, Adre...	ORPHA:100083
Immunodeficiency 102	Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti...	OMIM:301082
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ab...	OMIM:618048
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Foot dorsiflexor weakness, Cachexia, Ragged-red muscle fibers, Weight loss...	ORPHA:298
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia	ORPHA:157973
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade...	ORPHA:397596
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Weight loss, Hepatomegaly	ORPHA:79238
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal h...	OMIM:152800
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly	ORPHA:1133
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia...	ORPHA:37042
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Anemia, Hepatomegaly	ORPHA:2930
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency 15B	Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreas...	OMIM:615592
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Diencephalic Syndrome	Decreased body weight, Cachexia, Hyperhidrosis	ORPHA:1672
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur...	OMIM:601457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Abnormal imm...	ORPHA:276
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachex...	ORPHA:42
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig...	OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D...	ORPHA:169160
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Mcdonough Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Decreased circulating total IgM, T lymphocytopenia, De...	OMIM:619510
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c...	OMIM:620210
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l...	OMIM:618108
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, Cachexia	ORPHA:97229
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W...	ORPHA:1979
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hypoth...	ORPHA:3452
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Splenogonadal Fusion With Limb Defects And Micrognathia	Stillbirth	OMIM:183300
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Myositis, Lipodystrophy, Hypertriglyceridemia, Splenomegaly, Fle...	OMIM:617591
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Moynahan Syndrome	Cachexia	ORPHA:2574
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Pfapa Syndrome	Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Autoimmune hemolytic anemia, Failure to thrive, Hypo...	OMIM:613179
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal...	ORPHA:90362
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Weight ...	ORPHA:514
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Christianson Syndrome	Arthrogryposis multiplex congenita, Decreased muscle mass, Cachexia	ORPHA:85278
Ataxia-Telangiectasia	Skeletal muscle atrophy, Lymphopenia, Abnormal testis morphology, Decreased circulating antibody ...	ORPHA:100
Renpenning Syndrome	Skeletal muscle atrophy, Decreased testicular size, Cachexia	ORPHA:3242
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ...	OMIM:102700
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Weight loss, Bone marrow hypocellularity	ORPHA:391
Immunodeficiency 43	Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab...	OMIM:241600
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:603909
Rhabdoid Tumor	Hypercalcemia, Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Neonatal death, Arthrogry...	OMIM:618186
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Flynn-Aird Syndrome	Skeletal muscle atrophy, Primary adrenal insufficiency, Cachexia	ORPHA:2047
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Hip contracture, Failure to thrive in infancy, Cachexia	OMIM:616801
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicul...	ORPHA:275761
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Cellulitis, Muscu...	ORPHA:3165
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Pulmonary Blastoma	Weight loss	ORPHA:64741
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Failure to thrive, Myositis, Elevated circulating C-reactive protein con...	OMIM:615934
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Cellulitis, Abnormality of the...	ORPHA:47
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Microsporidiosis	Brain abscess, Myositis, Cholangitis, Cachexia, Lymphadenitis, Abnormality of the spleen, Periton...	ORPHA:2552
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Patent ductus arteriosus, Cryptorchidism, Hyperkalemia, Leukopeni...	OMIM:617053
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic cysts, Abnormality o...	ORPHA:400
Felty Syndrome	Hepatomegaly, Splenomegaly, Cellulitis, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocel...	ORPHA:47612
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Fail...	OMIM:614700
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Prox...	ORPHA:905
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab...	ORPHA:572
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Hernia, Lymphadenopathy	ORPHA:26790
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Sneddon Syndrome	Decreased circulating total IgM, Atrophic scars, Lymphopenia, Facial palsy	OMIM:182410
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Myopat...	OMIM:185070
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Di...	ORPHA:300605
Tuberculosis	Weight loss	ORPHA:3389
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia, Hypothyroidism	OMIM:619851
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Camurati-Engelmann Disease	Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou...	ORPHA:1328
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Tetrasomy 12P	Cachexia, Hypohidrosis	ORPHA:884
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma...	ORPHA:97289
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutropenia, Thromb...	ORPHA:520
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, I...	ORPHA:443811
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss, Hyperhidrosis	ORPHA:84142
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Hyperhidr...	ORPHA:813
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess...	OMIM:612541
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis	ORPHA:99868
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia	OMIM:602361
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Noonan Syndrome 12	Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia	OMIM:618624
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Elevated circulat...	ORPHA:160
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Failure to thrive, Supernumerary nipple, Cachexia	ORPHA:217346
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Thyroiditis, Lymphadenopathy, Weight loss, Lymphocytosis	ORPHA:139402
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Decrea...	ORPHA:1572
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Anaplastic Thyroid Carcinoma	Weight loss, Abnormal skeletal muscle morphology, Lymphadenopathy, Nodular goiter, Goiter	ORPHA:142
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong...	ORPHA:83471
Icf Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Macroglossia, Umbilical hernia,...	ORPHA:2268
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Patent ductus arteriosus, Weight loss, Hernia, Failure to thrive, Anemia	ORPHA:1842
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ...	ORPHA:1332
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Patent ductus arteriosus, Anemia, Hypoalbuminemia, Subcutaneous lipoma	ORPHA:79076
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, Decreased testicular ...	ORPHA:85293
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ...	ORPHA:486
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
Rett Syndrome	Skeletal muscle atrophy, Cachexia	OMIM:312750
Nodular Non-Suppurative Panniculitis	Splenomegaly, Weight loss, Panniculitis, Hepatomegaly	ORPHA:33577
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Elevated circulating alpha-fetop...	OMIM:208900
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Portal hypertension, Splenomegaly, Incre...	ORPHA:465508
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ...	OMIM:300755
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail...	OMIM:610965
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,...	OMIM:603041
Legionnaires Disease	Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ce...	ORPHA:549
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Impaired T cell ...	ORPHA:1830
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, P...	OMIM:620005
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Cachexia, Rhabdomyosarcom...	ORPHA:647
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Infantile Krabbe Disease	Failure to thrive, Shoulder girdle muscle weakness, Cachexia	ORPHA:206436
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Weight loss, T...	ORPHA:71493
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut...	OMIM:601495
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro...	ORPHA:508533
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa...	ORPHA:2072
Schwartz-Jampel Syndrome	Hip contracture, Inguinal hernia, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia...	ORPHA:800
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, Elevated circulating C-re...	OMIM:619381
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lympho...	ORPHA:99867
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Neutropenia, Failure to t...	OMIM:616395
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Poems Syndrome	Lipodystrophy, Polycythemia, Primary adrenal insufficiency, Lymphadenopathy, Weight loss, Increas...	ORPHA:2905
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Cachexia, Myopathy, Lipoma, Hashimoto thyroiditis	ORPHA:109
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti...	ORPHA:131
Pneumocystosis	Weight loss, Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, H...	ORPHA:199299
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Acute pancreatitis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Hepat...	OMIM:619487
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter	OMIM:188580
Microphthalmia, Syndromic 9	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Multi...	OMIM:601186
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci...	ORPHA:65682
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Lymphadenopath...	ORPHA:1333
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Increased circulating IgE level, Incr...	OMIM:615816
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss	ORPHA:2198
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Skeletal muscle atrophy, Cachexia,...	ORPHA:191
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating...	ORPHA:370348
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:301074
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Hyperhidrosis, Increased ci...	ORPHA:1304
Graves Disease, Susceptibility To, 1	Increased circulating free T4 concentration, Increased circulating free T3, Weight loss, Hyperhid...	OMIM:275000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ...	ORPHA:293978
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Hypothy...	ORPHA:84064
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Left ventricular hypertrophy, El...	OMIM:242840
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Hyperhidrosis, Anemia	ORPHA:52417
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Myositis, Abnormality of the spleen, Peritonitis, Celluli...	ORPHA:228119
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, Hypoalbuminemia, Neopla...	ORPHA:171
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,...	OMIM:242900
Trisomy 18	Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Cryptorchidism, ...	ORPHA:3380
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone marrow hyp...	ORPHA:508542
Q Fever	Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy, Abnormality o...	ORPHA:781
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Weight loss, Knee flexion contracture, Distal amyotrophy, Skeletal myopa...	ORPHA:3208
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Weight loss	ORPHA:79242
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Takayasu Arteritis	Weight loss, Anemia, Hyperhidrosis	ORPHA:3287
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis, Weight loss	ORPHA:188
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating free T4 concentration, Hyperthyroidism, Weight loss, Hypokalemia, Increased...	OMIM:613239
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome...	ORPHA:75565
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Lymphopenia, Hypoth...	OMIM:617575
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Gm1 Gangliosidosis	Inguinal hernia, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Aplasia/Hypopla...	ORPHA:354
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Increased...	ORPHA:2298
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Proteus Syndrome	Thymus hyperplasia, Decreased muscle mass, Macroorchidism, Abnormal dental enamel morphology, Cac...	ORPHA:744
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,...	ORPHA:90003
Erythrokeratodermia Variabilis	Abnormal testis morphology, Weight loss	ORPHA:317
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia, Weight loss	ORPHA:75566
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Pediatric Systemic Lupus Erythematosus	Myositis, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyt...	ORPHA:93552
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Wei...	ORPHA:85443
Whim Syndrome	Lymphadenitis, Cellulitis, Abnormal neutrophil morphology, Decreased circulating antibody level, ...	ORPHA:51636
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Hype...	ORPHA:20
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Spl...	OMIM:615846
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Thyroiditis, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis...	OMIM:212750
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys...	OMIM:158350
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Huntington Disease-Like 2	Weight loss	OMIM:606438
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis	ORPHA:134
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Alg12-Cdg	Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib...	ORPHA:79324
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Anemia, Weight loss	ORPHA:324964
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:1969
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Flexion contracture, Enthesitis, Lymphadenopathy, Hepatosplenomegaly, Weight loss, Anemia	ORPHA:85408
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thyroiditis, Neutropenia in presence of...	ORPHA:391487
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level	OMIM:617425
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra...	ORPHA:449395
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraprotei...	ORPHA:91139
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth...	OMIM:607944
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Spleno...	OMIM:181000
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97283
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97282
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100080
Rat-Bite Fever	Parotitis, Lymphadenitis, Tendonitis, Weight loss, Pancreatitis, Anemia	ORPHA:31205
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Addison Disease	Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Primary testicular f...	ORPHA:85138
Seckel Syndrome	Abnormal dental enamel morphology, Cachexia	ORPHA:808
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97261
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Central hypoth...	ORPHA:95427
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure...	ORPHA:79128
Hennekam Syndrome	Camptodactyly of finger, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased cir...	ORPHA:2136
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con...	ORPHA:90363
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97280
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Polymyositis	Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog...	ORPHA:732
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100082
Riddle Syndrome	Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Weight loss, D...	ORPHA:420741
Non-Functioning Paraganglioma	Episodic hyperhidrosis, Hypercalcemia, Weight loss	ORPHA:94080
Marfan Syndrome	Skeletal muscle atrophy, Inguinal hernia, Slender build, Cachexia	ORPHA:558
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Primary adr...	ORPHA:95409
Khan-Khan-Katsanis Syndrome	Failure to thrive, Patent ductus arteriosus after premature birth, Corneal scarring, Neutropenia,...	OMIM:618460
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97278
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Thrombocytopenia, Xerostomia, Thyroiditis,...	ORPHA:289390
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Eosinophilia, Weight loss	ORPHA:183
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Biliary hyperplasia, ...	ORPHA:83617
Rheumatoid Arthritis	Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Eosinophilia, Portal hypertension, Scarring, Fac...	ORPHA:797
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Cryptorchidism, Hyperkalemia, Testicular adre...	ORPHA:361
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Stickler Syndrome	Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Macroglossia, Slender build	ORPHA:828
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Diastasis recti, Splenomegaly, Knee flexion contracture, Hepato...	ORPHA:576
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive in infancy, Splenomegaly, ...	OMIM:219800
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Lymphopenia, Inguinal hernia, Hypocalcemia	ORPHA:2306
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:913
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Pancreatoblastoma, Pituita...	ORPHA:99889
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Increased body weight, Hyperhidrosis, Weight loss, Increa...	ORPHA:1501
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Perry Syndrome	Weight loss	ORPHA:178509
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss	ORPHA:251071
Toxic Epidermal Necrolysis	Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:537
Giant Cell Arteritis	Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis	ORPHA:397
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Stevens-Johnson Syndrome	Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia	ORPHA:36426
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Hypo...	ORPHA:2126
Cushing Disease	Adrenal hyperplasia, Dorsocervical fat pad, Pituitary corticotropic cell adenoma, Leukocytosis, I...	ORPHA:96253
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,...	ORPHA:440437
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Rhabdomyosarcoma, T lymphocytopenia, B lymphoc...	OMIM:251260
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Weight los...	OMIM:164310
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor...	ORPHA:143
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig...	ORPHA:144
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss	ORPHA:3163
Granulomatosis With Polyangiitis	Granulomatosis, Weight loss	OMIM:608710
Osteosarcoma	Weight loss	ORPHA:668
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidrosis, Adrenal pheochromocytoma, W...	ORPHA:276621
Hermansky-Pudlak Syndrome	Weight loss, Abnormal dental enamel morphology, Neutropenia	ORPHA:79430
Nocardiosis	Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Cellulitis, C...	ORPHA:31204
Yao Syndrome	Xerostomia, Weight loss	OMIM:617321
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Behçet Disease	Myositis, Orchitis, Splenomegaly, Weight loss, Lymphadenopathy, Pancreatitis	ORPHA:117
Bullous Pemphigoid	Weight loss	ORPHA:703
Cap Polyposis	Weight loss	ORPHA:160148
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Multiple lipomas, Pheo...	ORPHA:652
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Weight loss	ORPHA:92050
Oromandibular Dystonia	Torticollis, Weight loss	ORPHA:93958
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Ankle flexion contracture, Hypoplasia of the musc...	ORPHA:2020
Liposarcoma	Weight loss	ORPHA:69078
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Erdheim-Chester Disease	Retroperitoneal fibrosis, Weight loss, Anemia, Hyperhidrosis	ORPHA:35687
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr...	ORPHA:2388
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Microcytic anemia	ORPHA:2959
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency	ORPHA:309031
Fatal Familial Insomnia	Weight loss, Hyperhidrosis	OMIM:600072
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Cryptorch...	ORPHA:84
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Weight loss, Granulomatosis, Prostatitis, ...	ORPHA:900
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Hyperthyroidism, Elevated circulating growth hormone concentration, Inc...	ORPHA:91347
Perry Syndrome	Weight loss	OMIM:168605
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot...	ORPHA:48435
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidrosis, Adrenal pheochromocytoma, W...	ORPHA:29072
Dermatomyositis	Abnormal eosinophil morphology, Weight loss, Inflammatory myopathy, Cellulitis, Chondrocalcinosis	ORPHA:221
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Lower-limb joint contracture, Pancreatic hypoplasia, Arthrogryposis multiplex congen...	ORPHA:99885
Juvenile Dermatomyositis	Calcinosis, Myositis, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:93672
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:649
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Gerstmann-Straussler Disease	Lower limb muscle weakness, Weight loss	OMIM:137440
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Malignant Atrophic Papulosis	Peritonitis, Weight loss	ORPHA:679
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Increased circulating surf...	ORPHA:60025
African Trypanosomiasis	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Abnormal prolactin level, Hepatosplenomega...	ORPHA:3385
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Hereditary Late-Onset Parkinson Disease	Hypomimic face, Weight loss	ORPHA:411602
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Flexion contracture, Xerostomia, Weight loss	ORPHA:99921
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Weight loss, Hypophosphatemia, Hypokalemia, Decreased circulating c...	ORPHA:3337
Goodpasture Syndrome	Increased blood urea nitrogen, Anemia, Weight loss	OMIM:233450
Reactive Arthritis	Weight loss, Enthesitis	ORPHA:29207
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Absence of subcutaneous fat, Weight loss	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

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

DSS Histology

X-ray

X-ray

Eye Morphology

Spleen Immunophenotyping

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Traf2 mutations

Histopathology

IMPC related publications

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