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
increased circulating chloride level Traf2tm1a(EUCOMM)Wtsi HET   Early adult 9.58×10-06
preweaning lethality, complete penetrance Traf2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased CD8-positive, alpha-beta T cell number Traf2tm1a(EUCOMM)Wtsi HET   Early adult 0.00
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 Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Spleen Immunophenotyping

Images associated with FACS analysis

4 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

6 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 40
Lymphopenia OMIM:616433
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Immunodeficiency 8
Lymphopenia OMIM:615401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decr... OMIM:615513
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... ORPHA:100024
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Ab... ORPHA:277
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... ORPHA:824
Immunodeficiency 64
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Decreased circulati... OMIM:618534
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection... OMIM:608971
Nuchal Bleb, Familial
Stillbirth OMIM:257350
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy ORPHA:1216
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Cachexia, Anemia, Bone-marrow foam cells ORPHA:75233
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Cachexia, Mediastinal lymphadenopathy, ... ORPHA:83469
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... OMIM:300400
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Omenn Syndrome
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the t... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Increased circulating antibody level, Decreased lymphocyte proliferation in re... ORPHA:169154
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:86893
Reticular Dysgenesis
Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Decreased circulating ant... ORPHA:33355
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... OMIM:619313
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Majeed Syndrome
Failure to thrive, Hepatomegaly, Flexion contracture, Congenital hypoplastic anemia, Leukocytosis... ORPHA:77297
Carcinoma Of Esophagus
Obesity, Weight loss, Lymphadenopathy ORPHA:70482
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Decreased circulating IgA level, Lymphopenia, Decreased... ORPHA:331206
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Elevated circulating C-reactive protein conce... OMIM:618048
Laryngotracheoesophageal Cleft Type 4
Abnormality of mesentery morphology, Cachexia, Abnormality of the spleen ORPHA:93941
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Cachexia, Cirrhosis, Macrovesicular hepatic steatosis, Fo... ORPHA:298
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess, Elevated ... ORPHA:100083
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... OMIM:602450
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Cachexia, Skeletal muscle atrophy, Flexion contracture ORPHA:157973
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:98293
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia, Neonatal hypoproteinem... OMIM:152800
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Weight loss, Cachexia OMIM:613662
Galactose Epimerase Deficiency
Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia, Failure to thr... OMIM:601457
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Obesity OMIM:605309
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Aredyld Syndrome
Lipoatrophy, Hepatomegaly, Splenomegaly, Cachexia, Abnormal dental enamel morphology ORPHA:1133
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Hyperthyroidism, Splenomegaly, Hypothyr... ORPHA:37042
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Absen... OMIM:600802
Cronkhite-Canada Syndrome
Cachexia, Anemia, Hepatomegaly, Splenomegaly ORPHA:2930
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Diencephalic Syndrome
Cachexia, Decreased body weight, Hyperhidrosis ORPHA:1672
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno... ORPHA:545
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Decreased circulating IgA level, Lympho... ORPHA:276
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Mcdonough Syndrome
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Cryptorchidism ORPHA:2471
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decre... ORPHA:42
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth OMIM:183300
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Immunodeficiency 57 With Autoinflammation
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Pe... OMIM:618108
Whipple Disease
Hepatomegaly, Splenomegaly, Cachexia, Mediastinal lymphadenopathy, Myositis, Hypothyroidism, Hypo... ORPHA:3452
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Hyperlipoproteinemia, Flexion contracture, Abno... ORPHA:1979
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Increased circulating antibody level, Lymphopenia, Hepatomegaly, Flexion contr... OMIM:617591
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Limb muscle weakness, Cachexia ORPHA:97229
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... OMIM:242700
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Moynahan Syndrome
Cachexia ORPHA:2574
Pfapa Syndrome
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Neutropenia in pres... OMIM:613179
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Decreased circulating antibody level, Polycystic ovaries, Aplasia... ORPHA:100
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Christianson Syndrome
Cachexia, Decreased muscle mass, Arthrogryposis multiplex congenita ORPHA:85278
Renpenning Syndrome
Cachexia, Skeletal muscle atrophy, Decreased testicular size ORPHA:3242
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Apla... OMIM:102700
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... ORPHA:2442
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Elevated circulating creatine kinase concentration, Skeletal muscle atrophy ORPHA:1933
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Hypercalcemia, Weight loss, Thrombocytopenia, Lymphadenopathy ORPHA:69077
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatomegaly, Sple... OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:391
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Xerostomia, Anemia OMIM:175500
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Increased circulating IgA level, Elevated circulating C-reactive ... OMIM:615934
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating total IgM, B lymphocyt... OMIM:301081
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Skeletal muscle atrophy ORPHA:2047
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Eosinophilic Fasciitis
Muscular edema, Abnormal eosinophil morphology, Cellulitis, Eosinophilia, Myositis, Fasciitis, We... ORPHA:3165
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Lysosomal Acid Lipase Deficiency
Failure to thrive, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Cachexia, Hepatosple... ORPHA:275761
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Flexion contracture, B lymphocytopenia OMIM:619851
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia OMIM:616801
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Cellulitis, Anemia, Abnormality of the lymphatic system, Abnorma... ORPHA:47
Pulmonary Blastoma
Weight loss ORPHA:64741
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Microsporidiosis
Prostatitis, Pancreatitis, Cachexia, Lymphadenitis, Peritonitis, Abnormality of the spleen, Brain... ORPHA:2552
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Flexion contracture, Cachexia, Arthrogryposis multiplex congenita, Limb joint co... OMIM:618186
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Lymphopenia, Cryptorchidism, Leukopenia, Patent duc... OMIM:617053
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Increased serum iron, Neutr... OMIM:604250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Chronic Beryllium Disease
Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Cystic Echinococcosis
Increased circulating antibody level, Abnormality of the testis size, Cholestatic liver disease, ... ORPHA:400
Felty Syndrome
Hepatomegaly, Cellulitis, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia,... ORPHA:47612
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Failure to thrive, Decreased lymphocyte proliferation in response to mit... ORPHA:572
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:614700
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Proximal muscle weakness in lower... ORPHA:905
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
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
Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis ORPHA:86884
Oculopharyngodistal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal low... ORPHA:98897
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Lymphadenitis, Hem... OMIM:618935
Cyclic Neutropenia
Lymphopenia, Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neu... ORPHA:2686
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Pseudomyxoma Peritonei
Weight loss, Lymphadenopathy, Hernia, Abnormality of the peritoneum ORPHA:26790
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Severe failure to thrive, EMG: myopathic abnormalities, Cachexia, Elbow flexion ... ORPHA:371364
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Hypothyroidism, Neut... OMIM:618849
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy... ORPHA:79124
Sneddon Syndrome
Decreased circulating total IgM, Facial palsy, Lymphopenia, Atrophic scars OMIM:182410
Tuberculosis
Weight loss ORPHA:3389
Juvenile Amyotrophic Lateral Sclerosis
Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joint contracture, Retrocollis, Ca... ORPHA:300605
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia ORPHA:1116
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Kaposi Sarcoma
Generalized lymphadenopathy, Weight loss, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Camurati-Engelmann Disease
Slender build, Hepatomegaly, Splenomegaly, Anemia, Cachexia, Leukopenia, Facial palsy, Skeletal m... ORPHA:1328
Tetrasomy 12P
Cachexia, Hypohidrosis ORPHA:884
Pleural Mesothelioma
Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:50251
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Failure to thrive, Absent circulating B cells, Thrombocytopenia OMIM:619693
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Hypothyroidism OMIM:614162
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Primary hyp... ORPHA:97289
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Pgm3-Cdg
Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... ORPHA:443811
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... ORPHA:2070
Oculogastrointestinal Muscular Dystrophy
Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Silver-Russell Syndrome
Decreased muscle mass, Cachexia, Failure to thrive in infancy, Decreased testicular size, Obesity... ORPHA:813
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger ORPHA:2774
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Weight lo... ORPHA:2902
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia, Lymph... ORPHA:520
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss, Hyperhidrosis ORPHA:84142
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy, Ovarian neoplasm, Macroglossia ORPHA:2221
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatomegaly, Inguinal hernia, Splenomegaly, Cryptorchidism, Hypo... OMIM:612541
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Enamel hypoplasia, Thrombocytosis, Impaired ... OMIM:243150
Thymic Carcinoma
Weight loss, Mediastinal lymphadenopathy, Neoplasm of the thymus, Hyperhidrosis ORPHA:99868
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Allergic Bronchopulmonary Aspergillosis
Weight loss, Abnormal eosinophil morphology ORPHA:1164
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Pancreatic cysts, Abnormal skeletal musc... ORPHA:284
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cryptorchidism, Supernumerary nipple, Cachexia ORPHA:217346
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a... ORPHA:1572
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test OMIM:618624
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hepatomegaly, Weight loss, Patent ductus arteriosus, Hernia, Anemia ORPHA:1842
Cryptogenic Organizing Pneumonia
Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1302
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Macroglossia, T lymphocytopenia, Increased ci... OMIM:242860
Icf Syndrome
Lymphopenia, Macroglossia, Abnormality of neutrophils, Decreased circulating antibody level, Umbi... ORPHA:2268
Castleman Disease
Decreased mean corpuscular volume, Increased circulating interleukin 6 concentration, Elevated ci... ORPHA:160
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
Juvenile Polyposis Of Infancy
Cachexia, Patent ductus arteriosus, Subcutaneous lipoma, Hypoalbuminemia, Refractory anemia, Anemia ORPHA:79076
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Cachexia, Camptodactyly of finger, Decreased testicular size, Obesity, Hyperhidr... ORPHA:85293
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Goiter, Nodular goiter, Weight loss, Lymphadenopathy ORPHA:142
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Nodular goiter, Weight loss, Lymphadenopathy, Hype... ORPHA:1332
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Hepatitis, Weight loss, Lymphadenopathy, Thyroiditis ORPHA:139402
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Thymic Aplasia
Decreased proportion of naive T cells, Failure to thrive, Decreased lymphocyte proliferation in r... ORPHA:83471
Rett Syndrome
Cachexia, Skeletal muscle atrophy OMIM:312750
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... ORPHA:29073
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Nodular Non-Suppurative Panniculitis
Weight loss, Hepatomegaly, Panniculitis, Splenomegaly ORPHA:33577
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level,... OMIM:208900
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Legionnaires Disease
Pancreatitis, Lymphopenia, Cellulitis, Splenomegaly, Hepatitis, Hyponatremia, Bone marrow hypocel... ORPHA:549
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Complete or near-c... OMIM:300755
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Cellulitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... ORPHA:486
Xfe Progeroid Syndrome
Corneal scarring, Failure to thrive, Cachexia, Enamel hypoplasia, Absence of subcutaneous fat, Hy... OMIM:610965
Nijmegen Breakage Syndrome
Cachexia, Rhabdomyosarcoma, Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atroph... ORPHA:647
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Hyperlipidemia, Lymphopenia, Pancreatitis, Small for gestational age, Impaired... ORPHA:1830
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormality of the lymph nodes, Decreased circulating apolipoprotein AI concentrati... ORPHA:85450
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased circula... OMIM:601495
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Distal amyotrophy, Elevated circulating thymidine concentration, Ragged-... OMIM:603041
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Splenomegaly, Cachexia, Hepatosplenomegaly, Abnormality of the spleen, Hepatic fi... ORPHA:2072
Infantile Krabbe Disease
Shoulder girdle muscle weakness, Failure to thrive, Cachexia ORPHA:206436
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Hyperhidrosis, Thrombocytosis, Weight loss, Acute mye... ORPHA:71493
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Decreased circulating IgA level, Lymphopenia, Decreased circul... OMIM:620005
X-Linked Creatine Transporter Deficiency
Cachexia, Abnormal circulating creatine concentration ORPHA:52503
Schwartz-Jampel Syndrome
Hip contracture, Decreased body weight, Inguinal hernia, Skeletal muscle hypertrophy, Cachexia, E... ORPHA:800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein co... OMIM:615688
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... ORPHA:508533
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Poems Syndrome
Increased circulating antibody level, Polycythemia, Increased circulating prolactin concentration... ORPHA:2905
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Neutropenia, Bilateral cryptorch... OMIM:616395
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Decreased circulating c... ORPHA:293978
Bannayan-Riley-Ruvalcaba Syndrome
Lipoma, Cachexia, Hashimoto thyroiditis, Skeletal muscle atrophy, Myopathy ORPHA:109
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Weight lo... ORPHA:131
Thymoma
Abnormal lymphocyte physiology, Aplastic anemia, Myositis, Imbalanced hemoglobin synthesis, Pure ... ORPHA:99867
Immunodeficiency 55
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells OMIM:617827
Nephroblastoma
Weight loss, Lymphadenopathy, Neoplasm of the liver ORPHA:654
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... OMIM:619381
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic cholestasis, Hepatosplenom... ORPHA:1333
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Jaundice ORPHA:99978
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Hemolytic anem... OMIM:619487
Diffuse Alveolar Hemorrhage
Leukocytosis, Anemia, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia ORPHA:90060
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hypoplastic spleen, Pancytopenia, Bone marrow hy... ORPHA:699
Immunodeficiency 49
Eosinophilia, Lymphopenia, Umbilical hernia OMIM:617237
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Lymphopenia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Crypto... OMIM:617575
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Wei... ORPHA:65682
Schimke Immunoosseous Dysplasia
Lymphopenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Elevated circulating thyr... OMIM:242900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Goiter, Rhabdomyolysis, Weight loss OMIM:188580
Pneumocystosis
Increased circulating antibody level, Weight loss, Abnormal neutrophil count ORPHA:723
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Cachexia, Limb hypertonia, Ename... ORPHA:191
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, Hyponatre... ORPHA:171876
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... OMIM:275000
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:50918
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Syndromic Diarrhea
Lymphopenia, Hepatomegaly, Inguinal hernia, Splenomegaly, Small for gestational age, Hepatoblasto... ORPHA:84064
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic... OMIM:615816
Brucellosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypersplenism, Weight loss, ... ORPHA:1304
Fusariosis
Lymphopenia, Cellulitis, Peritonitis, Abnormality of the spleen, Brain abscess, Myositis, Fasciit... ORPHA:228119
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... ORPHA:508542
Trisomy 18
Congenital diaphragmatic hernia, Cachexia, Camptodactyly of finger, Hernia, Omphalocele, Cryptorc... ORPHA:3380
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Hepatomegaly ORPHA:2198
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal hernia, Diaphragmatic eventratio... OMIM:601186
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration, Myositis ORPHA:48918
Q Fever
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cholecystit... ORPHA:781
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:301074
Holocarboxylase Synthetase Deficiency
Weight loss, Thrombocytopenia, Hyperammonemia ORPHA:79242
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Lymphadenopathy ORPHA:411703
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Takayasu Arteritis
Anemia, Weight loss, Hyperhidrosis ORPHA:3287
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm, Elevated alpha-fetoprotein... ORPHA:370348
Proteus Syndrome
Lipoma, Lymphangioma, Ovarian neoplasm, Splenomegaly, Cachexia, Myofibrillar myopathy, Neoplasm o... ORPHA:744
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Hepatomegaly, Splenomegaly, Cachexia, Eosinoph... ORPHA:75565
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Insulin-Resistance Syndrome Type B
Decreased body weight, Increased circulating IgA level, Abnormal circulating fatty-acid concentra... ORPHA:2298
Malt Lymphoma
Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy, Hyperhidrosis ORPHA:52417
Pyomyositis
Leukocytosis, Myositis, Testicular teratoma, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Systemic Capillary Leak Syndrome
Weight loss, Pancreatitis, Leukocytosis ORPHA:188
Gm1 Gangliosidosis
Failure to thrive, Macroglossia, Splenomegaly, Inguinal hernia, Hepatosplenomegaly, Aplasia/Hypop... ORPHA:354
Popov-Chang syndrome
Failure to thrive, Decreased circulating antibody level, Lymphopenia OMIM:618428
Ménétrier Disease
Weight loss, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Abnormality of the extraocular muscles, Xerostomia, Myositis, Ab... ORPHA:79078
Avian Influenza
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Elevated circulat... ORPHA:454836
Erythrokeratodermia Variabilis
Weight loss, Abnormal testis morphology ORPHA:317
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Leukopenia, Acute pancreatitis, Hepatitis, Thr... ORPHA:319218
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Polycythemia Vera
Hepatomegaly, Splenomegaly, Portal hypertension, Weight loss, Acute leukemia ORPHA:729
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Myositis, Microangiopathic hemolytic anemia, Thrombocytopenia, Lymphaden... ORPHA:93552
Whim Syndrome
Lymphopenia, Cellulitis, Lymphadenitis, Decreased circulating antibody level, Neutropenia, Paroti... ORPHA:51636
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Goiter, Weight loss OMIM:613239
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy, Knee flexion contracture, Low... ORPHA:3208
Al Amyloidosis
Increased circulating antibody level, Hepatomegaly, Macroglossia, Increased circulating NT-proBNP... ORPHA:85443
Primary Sclerosing Cholangitis
Cholelithiasis, Thyroiditis, Cholangiocarcinoma, Neoplasm of the gallbladder, Pancreatitis, Hepat... ORPHA:171
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Increased circulating IgG1 level, Elevated circulating C-reactive prot... ORPHA:449395
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Hepatomegaly,... OMIM:615846
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Cowden Syndrome 1
Hydrocele testis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Decreased circulati... OMIM:158350
Pancreatoblastoma
Abnormality of the lymph nodes, Pancreatic calcification, Elevated maternal serum alpha-fetoprote... ORPHA:677
Huntington Disease-Like 2
Weight loss OMIM:606438
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hepat... OMIM:619377
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Hepatosplenomegaly, Weight loss, Enthesitis, Anemia, Lymphadenopathy ORPHA:85408
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Hyperammonemia, Leukopenia, Acute ... ORPHA:20
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Lymphopenia, Hepatic cysts OMIM:617425
Alg12-Cdg
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Hyperammonemia, Thrombocytosis, Hyperuricemia, Weight loss ORPHA:134
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Skeletal muscle atrophy ORPHA:1969
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Cirrhosis, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:127550
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Lymphopenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Sm... OMIM:619573
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Weight loss, Elevated circulating C-reactive protein concentration ORPHA:324964
Vipoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Neoplasm of the liver, Elevat... ORPHA:97282
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Iron deficiency anemia, Macrocy... OMIM:212750
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hemobilia, Hyperbilirubinemia,... ORPHA:88673
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Inguinal hernia, Abnormality of the pancreas, Agammaglobulinemia, Anemia ORPHA:935
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Somatostatinoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Pituitary adenoma, Elevated c... ORPHA:97283
Simple Cryoglobulinemia
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chronic ly... ORPHA:91139
Central Diabetes Insipidus
Failure to thrive, Weight loss, Hyponatremia ORPHA:178029
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circula... ORPHA:103910
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Hepatomegaly, Increased circulating cortisol l... ORPHA:97287
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia, Hypothyroidism, Neutropenia, Lymphad... OMIM:607944
Juvenile Huntington Disease
Weight loss ORPHA:248111
Grfoma
Increased circulating gonadotropin level, Palmoplantar hyperhidrosis, Cholelithiasis, Elevated ci... ORPHA:97261
Gallbladder Neuroendocrine Tumor
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... ORPHA:100086
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Ab... OMIM:181000
Rat-Bite Fever
Pancreatitis, Tendonitis, Lymphadenitis, Weight loss, Anemia, Parotitis ORPHA:31205
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal serum interferon-gamma level, Neutropenia in presence of anti-neutropil antibodies, Lymp... ORPHA:391487
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly ORPHA:100080
Seckel Syndrome
Cachexia, Abnormal dental enamel morphology ORPHA:808
Addison Disease
Hypoparathyroidism, Failure to thrive, Decreased circulating aldosterone level, Thymoma, Decrease... ORPHA:85138
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic non... ORPHA:100085
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Cryptorchidism, Inguinal hernia, Abnormal circulating lipid concentration, Truncal o... OMIM:616541
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Hyponatremia ORPHA:90794
Glucagonoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Pituitary adenoma, Elevated c... ORPHA:97280
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Huntington Disease
Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index ORPHA:399
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Secondary Short Bowel Syndrome
Failure to thrive, Low plasma citrulline, Cholestasis, Abnormal blood ion concentration, Primary ... ORPHA:95427
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... OMIM:607459
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Infantile hypercalcemia OMIM:143880
Marfan Syndrome
Slender build, Cachexia, Skeletal muscle atrophy, Inguinal hernia ORPHA:558
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Abnormal muscle fiber morphology, Graves disease, Hyperthyroidism, Episodic hypok... ORPHA:79102
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Reduced circulating transferrin concentration, Seco... ORPHA:90363
Lymphoid Interstitial Pneumonia
Failure to thrive, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, W... ORPHA:79128
Polymyositis
Abnormal muscle fiber morphology, Hepatomegaly, Chondrocalcinosis, Elevated circulating creatine ... ORPHA:732
Ppoma
Increased circulating gonadotropin level, Cholelithiasis, Neoplasm of the pancreas, Elevated circ... ORPHA:97278
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly, Iron deficiency anemia ORPHA:100075
Hennekam Syndrome
Lymphangioma, Lymphopenia, Hypocalcemia, Splenomegaly, Pulmonary lymphangiectasia, Camptodactyly ... ORPHA:2136
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly ORPHA:100082
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... ORPHA:95409
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Elevated alpha-fetoprotein, Dec... ORPHA:420741
Primary Sjögren Syndrome
Increased circulating antibody level, Chronic active hepatitis, Lymphopenia, Leukopenia, Xerostom... ORPHA:289390
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolyti... OMIM:251260
Marburg Hemorrhagic Fever
Increased circulating antibody level, Hypokalemia, Lymphopenia, Pancreatitis, Orchitis, Hyperammo... ORPHA:99826
Non-Functioning Paraganglioma
Weight loss, Episodic hyperhidrosis, Hypercalcemia ORPHA:94080
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Weight loss, Myositis ORPHA:183
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Lipoma, Elevated circulating ... ORPHA:913
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... ORPHA:906
Stickler Syndrome
Slender build, Macroglossia, Cachexia, Skeletal muscle atrophy, Abnormal dental enamel morphology ORPHA:828
Sarcoidosis
Hepatomegaly, Hyperthyroidism, Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Facial p... ORPHA:797
Ileal Neuroendocrine Tumor
Weight loss, Lymphadenopathy, Extrahepatic cholestasis, Iron deficiency anemia ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss, Lymphadenopathy, Extrahepatic cholestasis, Iron deficiency anemia ORPHA:100077
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Cryptorchidism... ORPHA:361
Rheumatoid Arthritis
Digital flexor tenosynovitis, Weight loss, Elevated circulating C-reactive protein concentration OMIM:180300
Mucolipidosis Type Ii
Diastasis recti, Hip contracture, Inguinal hernia, Splenomegaly, Left ventricular hypertrophy, He... ORPHA:576
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... ORPHA:424
Huntington Disease-Like 1
Weight loss ORPHA:157941
Peritoneal Cystic Mesothelioma
Weight loss, Peritonitis ORPHA:168816
Polyarteritis Nodosa
Weight loss, Elevated circulating C-reactive protein concentration ORPHA:767
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Elevated circulating C-reactive protein concentration, Increased blood urea nit... ORPHA:49041
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hypophosphatemic rickets, Hepatomegaly, Hypomagnesemia, Hypoph... OMIM:219800
Malignant Peritoneal Mesothelioma
Weight loss, Peritonitis ORPHA:168811
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Hepatomegaly, Cryptorchidism, Inguinal hernia, Contracture of ... ORPHA:83617
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Weight loss, Patent ductus arteriosus, Obesity, Cryptorchidism ORPHA:251071
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Hypokalemia, Increased circulating cortisol level, Elevat... ORPHA:1501
Perry Syndrome
Weight loss ORPHA:178509
Lujo Hemorrhagic Fever
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Ful... ORPHA:319213
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Abnormality of the peritoneum, Reduced C-peptide... ORPHA:2126
Giant Cell Arteritis
Weight loss, Mediastinal lymphadenopathy, Hyperhidrosis ORPHA:397
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Pancreatic adenocarcinoma, Lymphopenia, Leukocytosis, Increased circulating co... ORPHA:99889
Toxic Epidermal Necrolysis
Pancreatitis, Anemia, Neutropenia, Weight loss, Thrombocytopenia ORPHA:537
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pituitary adenoma, Flexion contracture, Hepatocellular carcinoma, Abnor... ORPHA:440437
Stevens-Johnson Syndrome
Pancreatitis, Abnormality of neutrophils, Weight loss, Anemia, Thrombocytopenia ORPHA:36426
Cushing Disease
Abdominal obesity, Lymphopenia, Leukocytosis, Increased circulating cortisol level, Pituitary cor... ORPHA:96253
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Familial Gestational Hyperthyroidism
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Goiter, Thyroid hyperpla... ORPHA:99819
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, El... OMIM:164310
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Lipoma, Pancreatitis, Hypophosphatemia, Parathyroid ca... ORPHA:143
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Short Syndrome
Lipodystrophy, Weight loss, Inguinal hernia, Abnormal dental enamel morphology ORPHA:3163
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Osteosarcoma
Weight loss ORPHA:668
Granulomatosis With Polyangiitis
Weight loss, Granulomatosis OMIM:608710
Lynch Syndrome
Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Flexion contracture, Hepatocellula... ORPHA:144
Hermansky-Pudlak Syndrome
Weight loss, Abnormal dental enamel morphology, Neutropenia ORPHA:79430
Nocardiosis
Cellulitis, Lymphadenitis, Peritonitis, Brain abscess, Weight loss, Cutaneous abscess, Liver absc... ORPHA:31204
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia ORPHA:35710
Wild Type Attr Amyloidosis
Weight loss, Hepatomegaly ORPHA:330001
Behçet Disease
Orchitis, Pancreatitis, Splenomegaly, Myositis, Weight loss, Lymphadenopathy ORPHA:117
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromocytoma, Weight loss, Episodic hyp... ORPHA:276621
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, W... ORPHA:103918
Yao Syndrome
Weight loss, Xerostomia OMIM:617321