Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mitogen-activated protein kinase kinase kinase 14
Synonyms:
Nik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Map3k14 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 Map3k14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Impaired Ig cl... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Immunodeficiency 32A
Lymphadenopathy, Recurrent infections OMIM:614893
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Malabsorption, Colitis, Viral hepatitis, Recurrent fungal infecti... OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 53
Recurrent infections, Recurrent respiratory infections, Recurrent otitis media OMIM:617585
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Hepatomegaly, Decreased circulating IgG level, Ly... OMIM:619652
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... OMIM:308230
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hypoplasia of the... OMIM:300400
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increas... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Thrombocytopenia, Decreas... OMIM:619802
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... ORPHA:731
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... OMIM:615207
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunisti... OMIM:608971
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Fulminant hepatit... ORPHA:2137
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulating IgG level, Sple... OMIM:616100
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eczema, Atopic d... OMIM:243700
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase... ORPHA:480520
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D... OMIM:615615
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T... ORPHA:277
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... ORPHA:567983
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Sialadenitis, Abnormal pancreas morphology, Co... ORPHA:449432
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Psoriasis 14, Pustular
Oligoarthritis, Elevated circulating C-reactive protein concentration, Pustule, Neutrophilia, Leu... OMIM:614204
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone... ORPHA:443811
Autosomal Agammaglobulinemia
High palate, Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent skin infections, Cellu... ORPHA:33110
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Aspergillosis
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... ORPHA:1163
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... OMIM:619662
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... ORPHA:444463
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Thrombocytopenia, Gastrointestinal hemorrhage, Nephrotic syndrome, Splenomegaly, Fo... OMIM:603909
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Alopecia, Anemia, Severe infection, Eczema, Eosinophilia... OMIM:304790
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Eczematoid dermatitis, Persistence of primary teeth, Recurrent fungal infections, Sk... OMIM:147060
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglob... OMIM:269840
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Dental crowding, Joint contracture of the hand, Macroglossia, Eczema, Eosinophilia, Re... OMIM:618523
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhosis, Hepatospl... ORPHA:228426
Kerion Celsi
Lymphadenopathy ORPHA:499
Cystic Echinococcosis
Abnormality of the testis size, Hepatomegaly, Elevated circulating alkaline phosphatase concentra... ORPHA:400
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... ORPHA:562639
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... OMIM:602347
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Hypoproteinemia, Splenomegaly, Alopecia, Hypoplasia of... OMIM:603554
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... OMIM:601859
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... ORPHA:79302
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Alveolar Echinococcosis
Abnormality of bladder morphology, Decreased liver function, Increased circulating antibody level... ORPHA:284
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Roifman Syndrome
Hip contracture, Hepatosplenomegaly, Eczema, Eosinophilia, Long philtrum, Prominent eyelashes, Do... ORPHA:353298
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
High palate, Recurrent skin infections, Alopecia, Abnormality of the dentition, Eczema, Atopic de... OMIM:618282
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Esophag... OMIM:301068
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Sepsis, Myocarditis, Biliary tract abnormalit... ORPHA:2552
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgA level, Recur... OMIM:610163
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Respiratory distress, Hepatomegaly, Cleft palate, Eczema, Severe B lymphocytopeni... ORPHA:83617
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Medi... OMIM:300853
X-Linked Agammaglobulinemia
Alopecia, Sepsis, Abnormal lung morphology, Malabsorption, Osteomyelitis, Cellulitis, Arthritis, ... ORPHA:47
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Increased circulating fer... OMIM:619991
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... OMIM:613101
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... OMIM:242850
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Aplastic anemia, Pneumonia, Recurrent viral in... ORPHA:486
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Orchitis, Pancreatitis, Sialadenitis, Elevated circulating C-r... ORPHA:449563
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Omphalocele, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Ly... OMIM:243150
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Eczema, Lymphadenitis, Abscess, Anal fissure, Nephrotic syndrome, Splenomegaly, Re... OMIM:618935
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Dark yellow urine, Splenomegaly, Ele... ORPHA:30391
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... ORPHA:217390
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Respiratory distress, Gastritis, Alopecia, Eczema, Sepsis, Decreased p... ORPHA:37042
Legionnaires Disease
Pancreatitis, Sepsis, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Bone marro... ORPHA:549
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Cyclic Neutropenia
Otitis media, Cervical lymphadenopathy, Sepsis, Lymphadenopathy, Cellulitis, Recurrent tonsilliti... ORPHA:2686
Immunodeficiency 23
High palate, Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster infection,... OMIM:615816
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Uveitis, Bone marrow hypoce... ORPHA:3261
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Roifman Syndrome
Hip contracture, Hepatomegaly, Splenomegaly, Eczema, Eosinophilia, Long philtrum, Prominent eyela... OMIM:616651
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Autoinflammation, Immune Dysregulation, And Eosinophilia
Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegal... OMIM:618999
Netherton Syndrome
Sparse scalp hair, Asthma, Decreased circulating IgG level, Intestinal atresia, Sparse eyebrow, B... OMIM:256500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma,... ORPHA:3260
Melioidosis
Splenic abscess, Unusual skin infection, Prostatitis, Cellulitis, Osteoarthritis, Sepsis, Abnorma... ORPHA:31202
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive ... OMIM:617241
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration... ORPHA:381
Drug Reaction With Eosinophilia And Systemic Symptoms
Enanthema, Nephrotic syndrome, Pustule, Skin rash, Acute hepatic failure, Lymphocytosis, Intersti... ORPHA:139402
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Hepatosplenomegal... OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Alopecia, Aplasia/Hypoplasia of the... ORPHA:39041
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... ORPHA:158061
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Abnormal pleura morphology, Arthritis ORPHA:2582
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... OMIM:618986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Microdontia, Pr... ORPHA:1830
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Seps... ORPHA:289916
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... ORPHA:2902
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Aphthous u... OMIM:615767
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa... OMIM:308240
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Hypocalcemia,... ORPHA:64744
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Meckel Syndrome, Type 7
Inguinal hernia, Hepatosplenomegaly, Multicystic kidney dysplasia, Cholestasis, Multiple glomerul... OMIM:267010
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopeni... OMIM:619752
Al Amyloidosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Renal interstitial amyloid... ORPHA:85443
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, Arthritis... OMIM:601457
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Renal cyst, Omphalocele, Meningocele, Bile duct proliferation OMIM:603194
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Elevated circulating C-reactiv... ORPHA:829
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Fibrosclerosis, Multifocal
Thyroiditis, Joint contracture of the hand, Camptodactyly of finger, Sclerosing cholangitis, Retr... OMIM:228800
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Atopic dermatitis, Asthma, Pneumonia OMIM:617638
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Rec... OMIM:617425
Cranioectodermal Dysplasia 2
High palate, Hepatomegaly, Sparse hair, Cleft palate, Sparse eyebrow, Microdontia, Cholestasis, B... OMIM:613610
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Renal insufficien... ORPHA:79312
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Proteinuria, Pneumonia, Poly... ORPHA:2298
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepatic ductal plat... OMIM:607361
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Cleft palate, Skin rash, Cellulitis, Abnormality of the dentition, Eczema, Eosinop... ORPHA:2314
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Eosinophilic Gastroenteritis
Asthma, Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steat... ORPHA:2070
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomac... ORPHA:331235
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Generalized Eruptive Histiocytosis
Histiocytosis, Maculopapular exanthema, Hypereosinophilia, Elevated total serum tryptase, Leukemia ORPHA:157991
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Sepsis, Coarse hair, Enlarged kidney, Long eyelashes, Protein... OMIM:617303
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Caroli Disease, Isolated
Hepatomegaly, Esophageal varix, Portal hypertension, Cholangitis, Liver abscess OMIM:600643
Ebola Hemorrhagic Fever
Melena, Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, S... ORPHA:319218
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Polycystic liver disease, Pancreatic fibrosis, Respiratory ins... OMIM:208500
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Wiskott-Aldrich Syndrome
Melena, Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin te... OMIM:301000
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Asthma, Reduced circulating interleukin 27 concentration, Increased circulating ... OMIM:619632
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Lymphad... OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Cholestasis, Esophageal varix, Pancytopenia, Bile duct proliferation, Respiratory fa... OMIM:613658
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Igg4-Related Aortitis
Increased circulating antibody level, Asthma, Elevated circulating C-reactive protein concentrati... ORPHA:449400
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Sepsis, Pneumothorax... ORPHA:454836
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Elevated circulating C-reactive protein concentrat... OMIM:617388
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine... OMIM:619386
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated circulating aspar... OMIM:619525
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Respiratory insufficiency, Macrocytic ane... ORPHA:27
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Elevated circulating C-reactive protein concentration, Comple... ORPHA:449427
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin... OMIM:300861
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Sparse hair, Absent eyebrow, Intestinal malrotation, Hypoplasia of the thymus... ORPHA:436252
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis OMIM:215250
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Chronic kidney disease, Hepatic amyloidosis, Abnormal salivary gland m... ORPHA:314652
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Graft Versus Host Disease
Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto... ORPHA:39812
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... ORPHA:470
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Advance... ORPHA:2348
D-Bifunctional Protein Deficiency
High palate, Hepatomegaly, Splenomegaly, Long philtrum, Cholestasis, Primary adrenal insufficienc... OMIM:261515
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Respiratory insufficiency, Macrovesicular hepatic steatosis, Elevated g... OMIM:618329
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Pancreatitis, Hepatomegaly, Polycystic ovaries, Hepatic steatosis ORPHA:79084
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis, Increased circulating antibody level OMIM:118900
Meckel Syndrome, Type 6
Cleft upper lip, Aplasia of the bladder, Cleft palate, Hepatic cysts, Absent gallbladder, Renal c... OMIM:612284
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Methylmalonic acidu... OMIM:251000
Lymphoproliferative Syndrome 1
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Gastroesophageal reflux, Eosinophilia, Recurrent urinary tract i... ORPHA:90045
Coccidioidomycosis
Respiratory distress, Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pericarditis, Cocc... ORPHA:228123
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Hepatomegaly, Nephronophthisis, Microdontia, Cholestasis, Umbilical hern... OMIM:266920
Isolated Agammaglobulinemia
Sinusitis, Malabsorption, Skin rash, Otitis media, Cellulitis, Sepsis, Abnormal lymphocyte morpho... ORPHA:229717
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Narrow mouth, Hypodontia, Thin eyebrow, Eosinophilia, Oligodontia, Long philtrum, Microdo... OMIM:618092
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst, Cleft palate, Cleft upper lip OMIM:611561
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating ... ORPHA:36234
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Asthma, Brittle hair, Eosinophilia, Nail dystrophy, Erythroderma, Inc... OMIM:270300
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Abnor... ORPHA:848
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Dyspnea, Anemia, Thrombocytopenia, Abnormality of the gingiva ORPHA:517
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, D... OMIM:619381
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Enteroviral dermat... OMIM:307200
Immunodeficiency 88
Asthma, Eosinophilia, BCGosis OMIM:619630
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline... ORPHA:79303
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... OMIM:618805
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Hepatomegaly, Uveitis, Enlarged lacrimal glands, Pancytopenia, Increased circulati... OMIM:181000
Immunodeficiency 49
Hirsutism, Inflammatory abnormality of the skin, Lymphopenia, Eosinophilia, Short philtrum, Natal... OMIM:617237
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Hepatic failure, Leukocytosis, Hyperammonemia, Leukopenia, Sepsi... ORPHA:292
Joubert Syndrome 6
Nephronophthisis, Breathing dysregulation, Hepatic fibrosis, Bile duct proliferation, Stage 5 chr... OMIM:610688
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Hypodontia, Sparse hair, Sparse eyelashes, Alopecia, Oligodontia, Enamel hypoplasia... OMIM:607626
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Neutropenia, Chronic Familial
Premature loss of teeth, Increased circulating antibody level, Periodontitis, Gingivitis, Neutrop... OMIM:162700
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... ORPHA:3392
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Alopecia, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune thrombocytopeni... ORPHA:227990
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes ORPHA:97290
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, P... ORPHA:781
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hypertrichosis, Increased fecal porphyrin, Decrease... ORPHA:101330
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Graves disease, Alopecia, Rheumatoid arthritis, Autoimmune hypoparathyroidism, Mac... ORPHA:227982
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal cen... ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Chronic bronchitis, Decreased circulating antibody level, Recurrent infections, Pneu... OMIM:614069
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes ORPHA:319487
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst, Cleft palate, Meningocele OMIM:611134
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia ... ORPHA:33355
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Hepat... ORPHA:391487
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Hepatomegaly, Ga... OMIM:613385
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Recurrent bacterial infections, Hep... OMIM:607624
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate... OMIM:232220
Propionic Acidemia
Apnea, Neutropenia, Pancreatitis, Hepatomegaly, Hyperglycinuria, Hyperammonemia, Propionyl-CoA ca... OMIM:606054
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
Complement Component C1S Deficiency
Hepatitis, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Abnormal... OMIM:615952
Meckel Syndrome, Type 1
Wide mouth, Cleft palate, Abnormality of the ureter, Hypoplasia of the bladder, Malformation of t... OMIM:249000
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... ORPHA:289390
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration, Myositis, Flexion contracture OMIM:253600
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Gastrointestinal stroma tumor, Otitis media, Splenomegaly, Autoimmune ... ORPHA:1572
Immunodeficiency 27B
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... OMIM:615978
Scleroderma
Keratitis, Alopecia, Myocarditis, Uveitis, Pericarditis, Abnormal large intestine morphology, Ost... ORPHA:801
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Cellulitis, Eosinophilia, Myositis, Arthritis, Fasciitis ORPHA:3165
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Loss of ... ORPHA:79083
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Recurrent bronchitis OMIM:216950
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Myocarditis, Abnormal pleura morphology, Increased inflammatory response, Proteinuria,... ORPHA:183
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Cellulitis, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduct... OMIM:266265
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Acute infectious pneumonia, ... ORPHA:73263
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Microvesicular hepatic steatosis, Aminoaciduria, Brittle hair, Cholesta... OMIM:124000
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Nephritis, Euthyroid goiter ORPHA:3327
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... OMIM:242700
Whim Syndrome
Sinusitis, Lymphopenia, Cellulitis, Otitis media, Lymphadenitis, Recurrent upper respiratory trac... ORPHA:51636
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Mccune-Albright Syndrome
Pancreatitis, Benign gastrointestinal tract tumors, Ovarian cyst, Hepatocellular adenoma, Cholest... ORPHA:562
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steatorrhea, Splenomegal... OMIM:607765
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... ORPHA:464370
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Proteinuria, Abnormal lung morpho... ORPHA:91139
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Decreased serum complement C4, Hematuria, Proteinuria, Microangiopa... ORPHA:93552
Candidiasis, Familial, 1
Premature loss of teeth, Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral infections,... OMIM:114580
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Carious ... ORPHA:79259
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis OMIM:219400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating alkaline phospha... OMIM:619534
Thymic Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Dysgammaglobulinemia ORPHA:100100
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Circulating immune complexes, Splenomegaly, Cryoglobulinemia, Medi... ORPHA:91138
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:612301
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Myocarditis, Severe viral infection, Pneumonia, Decreased urine output, Abnormality... ORPHA:544482
Iga Pemphigus
Oral mucosal blisters, Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevati... ORPHA:555905
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:275
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Narrow mouth, Gingival overgrowth, Dec... ORPHA:508533
Systemic Capillary Leak Syndrome
Pancreatitis, Pulmonary edema, Leukocytosis, Abnormal renal tubule morphology, Myocarditis, Cough... ORPHA:188
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Elevated circulating... ORPHA:186
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Sarcoidosis
Hepatomegaly, Hepatic failure, Alopecia, Maculopapular exanthema, Abnormal pleura morphology, Thr... ORPHA:797
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystrophy, Polycystic ova... ORPHA:90970
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Viral hepatitis, Hepa... ORPHA:139507
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Meningitis... OMIM:614379
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Flexion contracture, Steatorrhea, Inguinal hernia, Abnormal renal tubu... ORPHA:440713
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hemoglobinuria, Schistocytosis, Colonic stenosis, Rectal prolapse, Elevated circula... ORPHA:90038
Ataxia-Telangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ... OMIM:208900
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Wilson Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Arthritis, Thrombocytopenia... ORPHA:905
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, I... OMIM:208085
Wiskott-Aldrich Syndrome, Autosomal Dominant
Otitis media, Eczema, Decreased mean platelet volume, Pneumonia, Abnormal delayed hypersensitivit... OMIM:600903
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Myositis, Abnormal salivary gland morphology, Increa... ORPHA:79078
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Carious teeth, Enamel hypoplasia, Hepatitis, Thick vermilion border, Sparse lateral... ORPHA:363523
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... OMIM:614576
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia, Abnormality of the thymus OMIM:208910
Toxic Epidermal Necrolysis
Respiratory distress, Pancreatitis, Tracheoesophageal fistula, Sepsis, Abnormal pleura morphology... ORPHA:537
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Granulomatosis With Polyangiitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Otitis media, Hematuria, Inc... ORPHA:900
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Respiratory insufficiency, Pancreatitis OMIM:618230
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Fusariosis
Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Osteomyeliti... ORPHA:228119
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hypertri... ORPHA:435651
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Intesti... OMIM:226300
Cystic Fibrosis
Reduced forced expiratory volume in one second, Ileus, Exocrine pancreatic insufficiency, Asthma,... OMIM:219700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Congenital hypothyroidism, Long philtrum, Cholestasis,... OMIM:610199
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Decreased circulating IgA level, Lymphopenia, Decreased circul... OMIM:620005
Marburg Hemorrhagic Fever
Odynophagia, Pancreatitis, Maculopapular exanthema, Uveitis, Elevated circulating creatinine conc... ORPHA:99826
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... ORPHA:280365
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Stage 5 chronic ... OMIM:619487
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldosterone level, Iridocyclitis... OMIM:240300
Immunodeficiency 32B
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased circulating antibody level, Decreased proportion ... OMIM:301045
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Familial Mediterranean Fever
Pancreatitis, Proteinuria, Pericarditis, Malabsorption, Nephrotic syndrome, Splenomegaly, Periton... ORPHA:342
Cach Syndrome
Optic neuritis, Pancreatitis, Flexion contracture, Hepatosplenomegaly, Nonketotic hyperglycinemia... ORPHA:135
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Felty Syndrome
Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Cellu... ORPHA:47612
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Sepsis, Aplastic anemia, De... ORPHA:811
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Alo... OMIM:616576
Rift Valley Fever
Melena, Hematemesis, Skin rash, Increased circulating IgG level, Hematuria, Severe viral infectio... ORPHA:319251
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... ORPHA:182050
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Microcytic anemia OMIM:619750
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha... ORPHA:3162
Stevens-Johnson Syndrome
Dysuria, Pancreatitis, Acute hepatic failure, Sepsis, Abnormality of the urethra, Abnormal pleura... ORPHA:36426
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... ORPHA:79301
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Congenital alopecia totalis, T lymphocytopenia ORPHA:169095
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Lymphadenopathy, Increased circulating IgA level, Hepatomegaly ORPHA:343
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenom... OMIM:612840
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Anemia, Maculopapular exanthema, Lymphadenitis,... ORPHA:31205
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Abnormal enzyme/coenzyme activity, Leukocy... ORPHA:676
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Esophagitis, Eosinophilic, 2
Dysphagia, Eosinophilia, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Eosinophilia, Esophagitis OMIM:610247
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Mogs-Cdg
Hydrocele testis, Decreased circulating IgA level, Hirsutism, Hepatomegaly, Decreased circulating... ORPHA:79330
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia, Nephritis OMIM:274240
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Polycystic ovaries, Aplasia/Hypoplasia of the ... ORPHA:100
Mirizzi Syndrome
Cholelithiasis, Dark urine, Pancreatitis, Jaundice, Hyperbilirubinemia, Elevated circulating alka... ORPHA:521219
Lymphatic Filariasis
Hydrocele testis, Lymphadenitis, Hematuria, Epididymitis, Proteinuria, Knee osteoarthritis, Abnor... ORPHA:2035
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Alopecia, Sparse eyelashes, Dec... OMIM:620040
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Hematochezia, Pneumonia, Pancytopenia... OMIM:615846
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increase... ORPHA:83313
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno... OMIM:145001
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Anemia, Mediastinal lymphadenopathy, Decreased circulatin... ORPHA:169105
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... OMIM:613496
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Pleuritis, Lupus nephritis, Malar rash, Peric... OMIM:152700
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Incontinentia Pigmenti
Keratitis, Supernumerary nipple, Leukocytosis, Hypodontia, Sparse hair, Maculopapular exanthema, ... OMIM:308300
Fechtner syndrome
Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... OMIM:153640
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Camptodactyly of finger, Giant cell hepatitis, Jaundice OMIM:214980
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Leukopenia, Follicular hyperplasia, Increased circu... OMIM:615934
Immunodeficiency, Common Variable, 10
Asthma, Decreased circulating IgA level, Onychomycosis, Decreased circulating IgG level, Central ... OMIM:615577
Cholestasis, Benign Recurrent Intrahepatic, 1
Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... ORPHA:3032
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia, Curly hair, Cryptorchidism OMIM:616638
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of the dentition, Abnormality of iro... ORPHA:231226
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... ORPHA:169090
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Hemoperitoneum, Neutrophilia, Hepatic failure, Hemothorax, Hematuria, Myoca... ORPHA:99827
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... OMIM:613470
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Kikuchi-Fujimoto Disease
Hepatomegaly, Elevated circulating C-reactive protein concentration, Alopecia, Cervical lymphaden... ORPHA:50918
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Oroticaciduria, Pancreatitis, Hepatomegaly, Hemopha... OMIM:222700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Abnormal hair quantity ORPHA:1116
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Angiostrongyliasis
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... ORPHA:74
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, O... ORPHA:733
Mucoepithelial Dysplasia, Hereditary
Melena, Alopecia, Fibrocystic lung disease, Eosinophilia, Keratoconjunctivitis, Coarse hair, Hema... OMIM:158310
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Methioninuria, Pancreatitis, Inguinal hernia, Brittle hair, Homocystinuria, Hyperhom... OMIM:236200
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Hypocalciuric Hypercalcemia, Familial, Type Iii