Gene Summary

Name:
TNF receptor-associated factor 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased CD8-positive, alpha-beta T cell number Traf2tm1a(EUCOMM)Wtsi HET   Early adult 0.00
preweaning lethality, complete penetrance Traf2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating chloride level Traf2tm1a(EUCOMM)Wtsi HET   Early adult 9.58×10-06
decreased alpha-beta T cell number Traf2tm1a(EUCOMM)Wtsi HET   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Spleen Immunophenotyping

Images associated with FACS analysis

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 164 images

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.

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 Similarity of
phenotypes
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