banner
Genes Phenotypes Help, News, Blog

Gene: Traf2 MGI:101835

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Forepaw

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
Download thumbnail Download
Spleen Immunophenotyping

Images associated with FACS analysis

4 Images

View images
Eye Morphology

Images Slit Lamp

1 Images

View images
X-ray

XRay Images Skull Lateral Orientation

13 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

View images
Download thumbnail Download
Anti-nuclear antibody assay

Images

6 Images

View images
Download thumbnail Download
DSS Histology

Images

8 Images

View images
FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

View images
Legacy Phenotype Associated Images
Traf2tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 164 images

Traf2tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Traf2tm1a(EUCOMM)Wtsi
tail skin, WT, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
tail skin, WT, Female, WTSI
Traf2tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Traf2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
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
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... OMIM:615897
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells 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
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Decreased circulatin... OMIM:615513
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Mu-Heavy Chain Disease
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... ORPHA:100024
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,... ORPHA:824
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Failure to thrive, Ab... ORPHA:277
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
Nuchal Bleb, Familial
Stillbirth OMIM:257350
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... OMIM:615401
Immunodeficiency 104
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... OMIM:608971
Immunodeficiency 27A
Anemia, Weight loss, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Thromb... OMIM:209950
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Distal amyotrophy, Cachexia, Nonprogressive muscular atrophy ORPHA:1216
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Wolman Disease
Anemia, Adrenal insufficiency, Cachexia, Bone-marrow foam cells, Hepatomegaly, Splenomegaly ORPHA:75233
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Desmoplastic Small Round Cell Tumor
Anemia, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the peritoneum, Lymphaden... ORPHA:83469
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating total IgM, Reduced natural kil... OMIM:300400
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Absent circulating B cells, Failure to... OMIM:613501
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis, Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Reticular Dysgenesis
Leukopenia, Anemia, Weight loss, Decreased circulating antibody level, Aplasia/Hypoplasia of the ... ORPHA:33355
Carcinoma Of Esophagus
Lymphadenopathy, Obesity, Weight loss ORPHA:70482
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Majeed Syndrome
Flexion contracture, Weight loss, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Leu... ORPHA:77297
Leishmaniasis
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Increased circulating antibody l... ORPHA:507
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
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
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, Perianal abscess OMIM:619437
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology ORPHA:93941
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Lipodystrophy, In... OMIM:618048
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,... OMIM:301082
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Anemia, Decreased muscle mass, Hyperalaninemia, Weight loss, Cachexia, Foot dorsiflexo... ORPHA:298
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:157973
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Hodgkin Lymphoma
Hyperhidrosis, Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Galactose Epimerase Deficiency
Weight loss, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia OMIM:247800
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, F... OMIM:603554
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ragged-red muscle fibers, Weight loss OMIM:613662
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Stillbirth, Intestinal lymphangiectasia, Decreased circula... OMIM:152800
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Aredyld Syndrome
Cachexia, Hepatomegaly, Lipoatrophy, Splenomegaly, Abnormal dental enamel morphology ORPHA:1133
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Weight loss, ... ORPHA:54251
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Decreased prealbumin level, Cachexia, Abnormal blood ion concentration, Myositis,... ORPHA:37042
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Cronkhite-Canada Syndrome
Anemia, Cachexia, Splenomegaly, Hepatomegaly ORPHA:2930
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... OMIM:606843
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Follicular Lymphoma
Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom... ORPHA:545
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Diencephalic Syndrome
Hyperhidrosis, Cachexia, Decreased body weight ORPHA:1672
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Failure to thr... OMIM:601457
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Hepatitis, Increased circulating antib... ORPHA:169160
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Elevated circulating creatine kinase concentration, Hepatic stea... ORPHA:42
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia, Cryptorchidism ORPHA:2471
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegal... ORPHA:3226
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Whipple Disease
Hypothyroidism, Anemia, Cachexia, Myositis, Hepatomegaly, Mediastinal lymphadenopathy, Hyponatrem... ORPHA:3452
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... OMIM:619510
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth OMIM:183300
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Flexion contracture, Weight loss, Reduced subcutaneous ... ORPHA:1979
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Flexion contracture, Increased circulating antibody level, Lymphopenia, Myositis, Failure... OMIM:617591
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Cachexia, Limb muscle weakness, Facial palsy ORPHA:97229
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... OMIM:618108
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Moynahan Syndrome
Cachexia ORPHA:2574
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... OMIM:606367
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Pfapa Syndrome
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Weig... ORPHA:90362
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating inosine concentr... OMIM:613179
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Anemia, Weight loss, Lymphocytosis, Hypochromic anemia, Acute monocytic l... ORPHA:514
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Ataxia-Telangiectasia
Abnormal testis morphology, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:100
Christianson Syndrome
Cachexia, Arthrogryposis multiplex congenita, Decreased muscle mass ORPHA:85278
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... OMIM:102700
Renpenning Syndrome
Decreased testicular size, Cachexia, Skeletal muscle atrophy ORPHA:3242
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... OMIM:612692
Aggressive Systemic Mastocytosis
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocyt... ORPHA:98850
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration ORPHA:1933
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Classic Hodgkin Lymphoma
Hyperhidrosis, Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:391
Rhabdoid Tumor
Anemia, Weight loss, Neoplasm of the liver, Lymphadenopathy, Hypercalcemia, Thrombocytopenia ORPHA:69077
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Flynn-Aird Syndrome
Cachexia, Skeletal muscle atrophy, Primary adrenal insufficiency ORPHA:2047
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Weight loss, Hy... ORPHA:275761
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Cachexia, Xerostomia, Hypocalcemia, Hypomagnesemia OMIM:175500
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Eosinophilic Fasciitis
Weight loss, Cellulitis, Fasciitis, Abnormal eosinophil morphology, Myositis, Muscular edema, Eos... ORPHA:3165
Pulmonary Blastoma
Weight loss ORPHA:64741
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegal... OMIM:613673
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Facial hypotonia, Cachexia, Failure to thrive in infancy OMIM:616801
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... OMIM:301081
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Myositis, Failure to thrive, Follicular hyperplasia, Skeletal mu... OMIM:615934
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... ORPHA:35078
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
X-Linked Agammaglobulinemia
Anemia, Weight loss, Cellulitis, Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Re... ORPHA:47
Refractory Celiac Disease
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... ORPHA:398063
Mirage Syndrome
Patent ductus arteriosus, Leukopenia, Anemia, Decreased body weight, Decreased testicular size, A... OMIM:617053
Microsporidiosis
Lymphadenitis, Brain abscess, Weight loss, Prostatitis, Hepatitis, Peritonitis, Cachexia, Thyroid... ORPHA:2552
Neuropathy, Congenital Hypomyelinating, 3
Flexion contracture, Cachexia, Facial diplegia, Limb joint contracture, Arthrogryposis multiplex ... OMIM:618186
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Chronic Beryllium Disease
Weight loss, Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy ORPHA:133
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c... OMIM:604250
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... ORPHA:400
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Hyperhomocystinemia, Lymphopenia, Pan... OMIM:617780
Felty Syndrome
Anemia, Weight loss, Cellulitis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thro... ORPHA:47612
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, B lymphocytopenia, Absent circulating B cells, Agammaglobulinemi... OMIM:619705
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Hypothyroidism, Decreased circulating total IgM, B lymphocytopenia, Decrease... OMIM:614700
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Wilson Disease
Cirrhosis, Anemia, Proximal muscle weakness in lower limbs, Weight loss, Hepatitis, Jaundice, Hep... ORPHA:905
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Hemophagocytosis, Weight loss, Hepatosplenomegaly ORPHA:86884
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Perianal abscess, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac... OMIM:618935
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... ORPHA:572
Oculopharyngodistal Myopathy
Tibialis muscle weakness, Abnormality of masseter muscle, Abnormality of orbicularis oris muscle,... ORPHA:98897
Cyclic Neutropenia
Perianal abscess, Cellulitis, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopat... ORPHA:2686
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... OMIM:619652
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Knee flexion contracture, Hip contracture, Elbow flexion contracture, Cachexia, EMG: myopathic ab... ORPHA:371364
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Pseudomyxoma Peritonei
Lymphadenopathy, Hernia, Abnormality of the peritoneum, Weight loss ORPHA:26790
Bone Marrow Failure Syndrome 6
Hypothyroidism, Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, In... OMIM:618849
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Abnormally low T cell receptor excision circle level, Pancy... OMIM:619767
Sneddon Syndrome
Atrophic scars, Decreased circulating total IgM, Lymphopenia, Facial palsy OMIM:182410
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... OMIM:185070
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Lower-limb joint contracture, Muscle fiber atrophy, Cachexia, Skeletal muscle atroph... ORPHA:300605
Tuberculosis
Weight loss ORPHA:3389
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemi... ORPHA:79124
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Flexion contracture, B lymphocytopenia OMIM:619851
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss ORPHA:33276
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... ORPHA:3261
Camurati-Engelmann Disease
Leukopenia, Anemia, Abnormal subcutaneous fat tissue distribution, Cachexia, Skeletal muscle atro... ORPHA:1328
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Pleural Mesothelioma
Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:50251
Tetrasomy 12P
Hypohidrosis, Cachexia ORPHA:884
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Weight loss, Increased cir... ORPHA:97289
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:614069
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Large for gestational age, Lymphopenia, Hydrocele testis, H... OMIM:605309
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Eosinophilic Gastroenteritis
Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytos... ORPHA:2902
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Weight loss, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, N... ORPHA:520
Silver-Russell Syndrome
Hyperhidrosis, Decreased muscle mass, Decreased testicular size, Cachexia, Cryptorchidism, Obesit... ORPHA:813
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Oculogastrointestinal Muscular Dystrophy
Myopathy, Cachexia, Skeletal muscle atrophy ORPHA:1876
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Macroglossia, Weight loss, Ovarian neoplasm ORPHA:2221
Isaacs Syndrome
Hyperhidrosis, Weight loss, Calf muscle hypertrophy ORPHA:84142
Immunodeficiency 31C
Hypothyroidism, Weight loss, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:614162
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythro... OMIM:612541
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepa... OMIM:243150
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Weight loss ORPHA:2023
Thymic Carcinoma
Weight loss, Hyperhidrosis, Neoplasm of the thymus, Mediastinal lymphadenopathy ORPHA:99868
Castleman Disease
Anemia, Increased circulating interleukin 6 concentration, Weight loss, Jaundice, Generalized lym... ORPHA:160
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Weight loss, Increased circulating antibody ... ORPHA:449400
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia OMIM:602361
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia OMIM:618624
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Cryptogenic Organizing Pneumonia
Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1302
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au... ORPHA:1572
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia, Supernumerary nipple, Cryptorchidism ORPHA:217346
Alveolar Echinococcosis
Pancreatic cysts, Biliary cirrhosis, Anemia, Abnormal skeletal muscle morphology, Weight loss, Li... ORPHA:284
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Weight loss, Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Icf Syndrome
Anemia, Decreased circulating antibody level, Macroglossia, Lymphopenia, Abnormality of neutrophi... ORPHA:2268
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss, Hepatitis, Lymphocytosis, Thyroiditis, Lymphadenopathy, Eosinophilia ORPHA:139402
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Weight loss, Liver abscess, ... ORPHA:53035
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Anemia, Hernia, Weight loss, Failure to thrive, Hepatomegaly ORPHA:1842
Juvenile Polyposis Of Infancy
Patent ductus arteriosus, Anemia, Cachexia, Subcutaneous lipoma, Refractory anemia, Hypoalbuminemia ORPHA:79076
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... ORPHA:35858
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Medullary Thyroid Carcinoma
Hyperhidrosis, Weight loss, Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparat... ORPHA:1332
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hyperhidrosis, Decreased testicular size, Cachexia, Inguinal hernia, Obe... ORPHA:85293
Thymic Aplasia
Hypothyroidism, Hypocalcemic tetany, T lymphocytopenia, Decreased lymphocyte proliferation in res... ORPHA:83471
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... OMIM:613011
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Decreased muscle mass, Abnormality of iron homeostasis, Weight loss, E... ORPHA:465508
Multiple Myeloma
Anemia, Weight loss, Decreased circulating antibody level, Lymphadenopathy, Increased circulating... ORPHA:29073
Nodular Non-Suppurative Panniculitis
Weight loss, Panniculitis, Splenomegaly, Hepatomegaly ORPHA:33577
Rett Syndrome
Cachexia, Skeletal muscle atrophy OMIM:312750
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Mono... ORPHA:486
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Xfe Progeroid Syndrome
Enamel hypoplasia, Corneal scarring, Cachexia, Failure to thrive, Hypoalbuminemia, Absence of sub... OMIM:610965
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell... ORPHA:331235
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti... OMIM:208900
Legionnaires Disease
Cellulitis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Lymphadenopathy, Bone marrow hypocell... ORPHA:549
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Anemia, Primary testicular failure, Weight loss, Abnormal testis ... ORPHA:85450
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormality of thyroid physiology, Small for gestational age, Lymphopenia, Abnormal lymph... ORPHA:1830
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Patent ductus arteriosus, Hypothyroidism, Hepatic fibrosis, Anemia, Decreased circulating IgG lev... OMIM:620005
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Nijmegen Breakage Syndrome
Hemolytic anemia, Cachexia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Thrombocytopeni... ORPHA:647
Huntington Disease-Like 2
Weight loss ORPHA:98934
Infantile Krabbe Disease
Failure to thrive, Cachexia, Shoulder girdle muscle weakness ORPHA:206436
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating thymidine concentration, Weight loss, Elevated circulating deoxyuridine conc... OMIM:603041
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, B lymphocytopenia, Decreased circulating antibody level, Failure to thr... OMIM:601495
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Lymphopenia, Failure to thrive, Increased circulating IgA level, Neutro... OMIM:616395
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Familial Thrombocytosis
Acute myeloid leukemia, Hyperhidrosis, Weight loss, Thrombocytosis, Splenomegaly, Chronic myeloge... ORPHA:71493
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Cholelith... ORPHA:2072
Schwartz-Jampel Syndrome
Wrist flexion contracture, Decreased body weight, Hip contracture, Flexion contracture of toe, Te... ORPHA:800
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
X-Linked Creatine Transporter Deficiency
Cachexia, Abnormal circulating creatine concentration ORPHA:52503
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Weight loss, Hep... OMIM:619381
Thymoma
Weight loss, Leukemia, Decreased circulating antibody level, Abnormal lymphocyte proliferation, A... ORPHA:99867
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Hashimoto thyroiditis, Myopathy, Skeletal muscle atrophy, Lipoma ORPHA:109
Poems Syndrome
Hypothyroidism, Increased circulating prolactin concentration, Weight loss, Increased circulating... ORPHA:2905
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymph... OMIM:615688
Graves Disease, Susceptibility To, 1
Hyperhidrosis, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... OMIM:275000
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Peritonitis, ... ORPHA:131
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy, Weight loss ORPHA:654
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Leukocytosis, Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:90060
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Weight loss, Jaundice, N... ORPHA:1333
Klatskin Tumor
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly ORPHA:99978
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... ORPHA:699
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter OMIM:188580
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count, Weight loss ORPHA:723
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Weight loss, Hepatitis, Normocytic anemia, Decreased circulating cortisol level, P... ORPHA:199299
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Hyperkalemia, Increased circu... ORPHA:171876
Immunodeficiency 55
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... OMIM:616084
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Acholic stools, Chole... ORPHA:65682
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Immunodeficiency 23
Hemolytic anemia, Increased circulating IgG level, Lymphopenia, Failure to thrive, Eosinophilia, ... OMIM:615816
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic fibrosis, Anemia, Hemolytic anemia, Weight loss, Left ventricular hypertr... OMIM:619487
Cockayne Syndrome
Enamel hypoplasia, Contractures of the large joints, Hyperuricemia, Limb hypertonia, Reduced subc... ORPHA:191
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Weight loss, Ly... ORPHA:50918
Vici Syndrome
Leukopenia, T lymphocytopenia, Decreased T cell activation, Decreased circulating IgG2 level, Lef... OMIM:242840
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Hepatomegaly ORPHA:2198
Fusariosis
Brain abscess, Abnormality of the liver, Cellulitis, Granuloma, Peritonitis, Fasciitis, Lung absc... ORPHA:228119
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Weight loss, Hypokalemia, Increased circulating T4 concentration, Decreased thyr... OMIM:613239
Peripheral Primitive Neuroectodermal Tumor
Anemia, Weight loss, Lower limb muscle weakness, Jaundice, Neoplasm of the pancreas, Torticollis,... ORPHA:370348
Syndromic Diarrhea
Patent ductus arteriosus, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, ... ORPHA:84064
Brucellosis
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperhidrosis, Abnormality of the liver, Weight los... ORPHA:1304
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... ORPHA:293978
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Weight loss, Increased circulating interleuk... OMIM:301074
Bartter Syndrome Type 4
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia ORPHA:89938
Trisomy 18
Camptodactyly of finger, Hernia, Cachexia, Congenital diaphragmatic hernia, Cryptorchidism, Ompha... ORPHA:3380
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... ORPHA:508542
Focal Myositis
Myositis, Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Weight loss ORPHA:411703
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Diaphragmatic eventration, Multilobulated spleen, Inguinal hernia, Cong... OMIM:601186
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hep... ORPHA:171
Q Fever
Anemia, Abnormality of the liver, Weight loss, Hepatitis, Granuloma, Increased circulating antibo... ORPHA:781
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:241200
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia, Weight loss ORPHA:79242
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Malt Lymphoma
Hyperhidrosis, Anemia, Weight loss, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... ORPHA:760
Nephrotic Syndrome, Type 14
Hypothyroidism, Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypertriglyceridemia, Hypoalb... OMIM:617575
Takayasu Arteritis
Hyperhidrosis, Anemia, Weight loss ORPHA:3287
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Amoebiasis Due To Entamoeba Histolytica
Anemia, Weight loss, Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia ORPHA:67
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Cachexia, Myocardial calcification, Eosinophil... ORPHA:75565
Proteus Syndrome
Macroorchidism, Ovarian neoplasm, Neoplasm of the thymus, Decreased muscle mass, Enlarged polycys... ORPHA:744
Systemic Capillary Leak Syndrome
Weight loss, Pancreatitis, Leukocytosis ORPHA:188
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Skeletal myopathy, Weight loss, Left ventricular hypertrophy, Skeletal ... ORPHA:3208
Pyomyositis
Weight loss, Myositis, Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma ORPHA:764
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Lymphopenia, Bone marrow hypocellularity, Increa... OMIM:127550
Gm1 Gangliosidosis
Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:354
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, E... ORPHA:2298
Polycythemia Vera
Weight loss, Portal vein thrombosis, Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Avian Influenza
Leukopenia, Rhabdomyolysis, Hepatitis, Lymphopenia, Elevated circulating creatine kinase concentr... ORPHA:454836
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Retroperitoneal fibrosis, Weight loss, Nodular goiter, Thyroidi... ORPHA:79078
Erythrokeratodermia Variabilis
Weight loss, Abnormal testis morphology ORPHA:317
Loeffler Endocarditis
Weight loss, Left ventricular hypertrophy, Eosinophilia ORPHA:75566
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Increased circulating antibody level, Lymphopenia, Acute pancreatitis, Thr... ORPHA:319218
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Weight loss, Neoplasm of the liver, Biliary tract abnormali... ORPHA:90003
Al Amyloidosis
Anemia, Howell-Jolly bodies, Abnormality of the liver, Weight loss, Increased circulating antibod... ORPHA:85443
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Myositis, Lymphadenopathy, Thrombocyt... ORPHA:93552
Whim Syndrome
Lymphadenitis, Abnormality of neutrophil morphology, Cellulitis, Decreased circulating antibody l... ORPHA:51636
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Decreased circulating antibody level, Thyroiditis, Hydrocele tes... OMIM:158350
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Hyperuricemia, Weight loss, Jaundice, Acute pancreatitis, Hyperammonemia, Thr... ORPHA:20
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Anemia, Hemolytic anemia, Weight loss, Limb hypertonia, Hepatitis, Increased circ... OMIM:615846
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Chronic noninfectious lymphadenopathy, Weight loss, Neoplasm of the liver,... ORPHA:100085
Pancreatoblastoma
Abnormal lymph node morphology, Pancreatic calcification, Elevated maternal serum alpha-fetoprote... ORPHA:677
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Small for gestational age, Jaundice, Hypokalemia, Abno... OMIM:619573
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Weight loss, Hypokalemia, Portal fibr... OMIM:619377
Beta-Ketothiolase Deficiency
Hyperuricemia, Weight loss, Hyperammonemia, Thrombocytosis, Leukocytosis, Hepatomegaly ORPHA:134
Hepatocellular Carcinoma
Anemia, Abnormality of the liver, Hyponatremia, Weight loss, Liver abscess, Hepatic necrosis, Jau... ORPHA:88673
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Flexion contracture, Weight loss, Enthesitis, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Alg12-Cdg
Abnormal circulating IgG level, Patent ductus arteriosus, Complete or near-complete absence of sp... ORPHA:79324
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Weight loss, Thyroiditis, Failure to thrive, Thrombocytosis, Macrocytic anemia... OMIM:212750
Huntington Disease-Like 2
Weight loss OMIM:606438
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Skeletal muscle atrophy ORPHA:1969
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Hepatitis, Neutropenia in presence of anti-neutropil antibo... ORPHA:391487
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:324964
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Hepatic cysts, Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Central Diabetes Insipidus
Failure to thrive, Weight loss, Hyponatremia ORPHA:178029
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Weight loss, Monoclonal elev... ORPHA:91139
Somatostatinoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97283
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Abnormality of the pancreas, Lymphopenia, Inguinal hernia, Agammaglobulinemia ORPHA:935
Bronchial Neuroendocrine Tumor
Weight loss, Increased circulating cortisol level, Hepatomegaly, Chronic noninfectious lymphadeno... ORPHA:97287
Vipoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97282
Juvenile Huntington Disease
Weight loss ORPHA:248111
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neu... OMIM:607944
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Sarcoidosis, Susceptibility To, 1
Weight loss, Increased circulating antibody level, Enlarged lacrimal glands, Abnormality of T cel... OMIM:181000
Grfoma
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Increased circulating pr... ORPHA:97261
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Biliary tract neoplasm, Biliary tra... ORPHA:100086
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly ORPHA:100080
Igg4-Related Kidney Disease
Lymphadenitis, Abnormality of the anterior pituitary, Decreased retinol-binding protein level, In... ORPHA:449395
Addison Disease
Thymoma, Hyperuricemia, Primary testicular failure, Decreased circulating aldosterone level, Weig... ORPHA:85138
Rat-Bite Fever
Lymphadenitis, Anemia, Weight loss, Tendonitis, Parotitis, Pancreatitis ORPHA:31205
Seckel Syndrome
Cachexia, Abnormal dental enamel morphology ORPHA:808
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Reynolds Syndrome
Biliary cirrhosis, Calcinosis, Jaundice, Hyperbilirubinemia, Lymphopenia, Cholestasis, Hepatomega... OMIM:613471
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyperkalemia, Hyponatremia ORPHA:90794
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Glucagonoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97280
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss, Atypical scarring of skin ORPHA:704
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Anemia, Abnormal circulating lipid concentration, Lymphopenia, Inguinal hernia, T... OMIM:616541
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Abnormal blood ion concentration, Failure to thrive, Cholest... ORPHA:95427
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... OMIM:607459
Huntington Disease
Decreased body mass index, Weight loss, Abnormal circulating cholesterol concentration ORPHA:399
Lymphoid Interstitial Pneumonia
Abnormality of connective tissue, Weight loss, Failure to thrive, Mediastinal lymphadenopathy, He... ORPHA:79128
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased prealbumin level, Decreased circulating total IgM, Decreased circulating ant... ORPHA:90363
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100075
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Hennekam Syndrome
Camptodactyly of finger, Decreased circulating antibody level, Pulmonary lymphangiectasia, Lympho... ORPHA:2136
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Polymyositis
Weight loss, Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration... ORPHA:732
Ppoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97278
Marfan Syndrome
Slender build, Inguinal hernia, Cachexia, Skeletal muscle atrophy ORPHA:558
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
Riddle Syndrome
Decreased circulating total IgM, Weight loss, Generalized lymphadenopathy, Elevated circulating a... ORPHA:420741
Acute Adrenal Insufficiency
Hyperuricemia, Decreased circulating aldosterone level, Weight loss, Normocytic anemia, Decreased... ORPHA:95409
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroi... ORPHA:79102
Khan-Khan-Katsanis Syndrome
Anemia, Patent ductus arteriosus after premature birth, Corneal scarring, Lymphopenia, Failure to... OMIM:618460
Non-Functioning Paraganglioma
Episodic hyperhidrosis, Hypercalcemia, Weight loss ORPHA:94080
Marburg Hemorrhagic Fever
Leukopenia, Elevated circulating creatinine concentration, Increased circulating antibody level, ... ORPHA:99826
Primary Sjögren Syndrome
Leukopenia, Biliary cirrhosis, Chronic active hepatitis, Increased circulating antibody level, No... ORPHA:289390
Cartilage-Hair Hypoplasia
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... OMIM:250250
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... ORPHA:906
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Myositis, Eosinophilia ORPHA:183
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, S... ORPHA:83617
Zollinger-Ellison Syndrome
Multiple lipomas, Extrahepatic cholestasis, Pituitary corticotropic cell adenoma, Weight loss, In... ORPHA:913
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Decreased circulating aldosterone level, Weight loss, Testicular adrenal r... ORPHA:361
Rheumatoid Arthritis
Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Normocytic anemia, Renal tubular epithelial necrosis, Hydrocele testis, Increased bl... ORPHA:49041
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Weight loss ORPHA:100077
Sarcoidosis
Abnormal lymph node morphology, Leukopenia, Anemia, Hypothyroidism, Hyperthyroidism, Hemolytic an... ORPHA:797
Stickler Syndrome
Cachexia, Macroglossia, Skeletal muscle atrophy, Slender build, Abnormal dental enamel morphology ORPHA:828
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Hypohidrosis, Weight loss, Decreased plasma carnitine, Hypophosphate... OMIM:219800
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Huntington Disease-Like 1
Weight loss ORPHA:157941
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Weight loss, Congenital diaphragmatic hernia, Cryptorchidism, Obesity ORPHA:251071
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Small for g... ORPHA:424
Mucolipidosis Type Ii
Knee flexion contracture, Diastasis recti, Hip contracture, Weight loss, Left ventricular hypertr... ORPHA:576
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Inguinal hernia, Hypocalcemia, Lymphopenia ORPHA:2306
Lujo Hemorrhagic Fever
Leukopenia, Hyperhidrosis, Fulminant hepatitis, Lymphopenia, Elevated circulating C-reactive prot... ORPHA:319213
Adrenocortical Carcinoma
Hyperhidrosis, Hyperaldosteronism, Weight loss, Increased circulating cortisol level, Hypokalemia... ORPHA:1501
Giant Cell Arteritis
Weight loss, Hyperhidrosis, Mediastinal lymphadenopathy ORPHA:397
Toxic Epidermal Necrolysis
Anemia, Weight loss, Thrombocytopenia, Neutropenia, Pancreatitis ORPHA:537
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neoplasm of the thymus, Pituitary cort... ORPHA:99889
Stevens-Johnson Syndrome
Anemia, Weight loss, Abnormality of neutrophils, Thrombocytopenia, Pancreatitis ORPHA:36426
Perry Syndrome
Weight loss ORPHA:178509
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypophosphatemic rickets, Redu... ORPHA:2126
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Decreased eosinophil ... ORPHA:96253
Familial Colorectal Cancer Type X
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Hepatocell... ORPHA:440437
Nijmegen Breakage Syndrome
T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... OMIM:251260
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Thyrotoxico... ORPHA:99819
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, Weight loss, Autophagic vacuoles, EMG: myopathic ... OMIM:164310
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Weight loss, Abnormality of the parathyroid morphology, Hypophosphatem... ORPHA:143
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Osteosarcoma
Weight loss ORPHA:668
Short Syndrome
Lipodystrophy, Inguinal hernia, Weight loss, Abnormal dental enamel morphology ORPHA:3163
Lynch Syndrome
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Hepatocell... ORPHA:144
Hermansky-Pudlak Syndrome
Neutropenia, Weight loss, Abnormal dental enamel morphology ORPHA:79430
Glucose-Galactose Malabsorption