Registered for phenotyping at IMPC

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

Gene Summary

Name:
peptidylprolyl isomerase A
Synonyms:
cyclophilin A,  CyP-18,  Cphn,  CypA

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 Ppia 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 Ppia by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Atopic dermatitis, Incr... OMIM:618944
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Recurrent pneumonia, T lymphocytopenia, Increased circulating IgE level, Pulmonar... ORPHA:277
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hemophagocytosis, Increased circulating ferrit... OMIM:300635
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Incre... OMIM:615767
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Decreased serum iron, Hypereosinophili... OMIM:212050
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... OMIM:615615
Immunodeficiency 25
Recurrent pneumonia, T lymphocytopenia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Severe Combined Immunodeficiency, X-Linked
Skin rash, T lymphocytopenia, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Increased circulating antibody level, Decreased proportio... ORPHA:169160
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Increased circulating lactate dehydrogenase concentr... OMIM:604173
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Blepharitis, Increased circulating IgE level OMIM:614328
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Hepato... OMIM:618495
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Increased alpha-globulin OMIM:235900
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Complement Component 4B Deficiency
Decreased serum complement C4b, Chronic active hepatitis OMIM:614379
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis OMIM:613783
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Pneumonia, Plasma... OMIM:247800
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurrent otitis media, Re... OMIM:607594
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Eosin... OMIM:618523
Retinal Telangiectasia And Hypogammaglobulinemia
Retinal telangiectasia, Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczema OMIM:618985
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent otitis medi... ORPHA:444463
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:147060
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Chronic oral candidiasis, D... OMIM:606367
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections OMIM:617744
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Decreased circulating IgE, Decreased baso... OMIM:618394
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Bronchiectasis, Decreased specific anti-polysaccharide antibody level, Autoimmune thrombocytopeni... OMIM:300853
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Epicanthus OMIM:616911
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Epicanthus, Neutropenia, Conjunctivitis, Hepatit... ORPHA:33110
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Increased circulating antibody ... ORPHA:449400
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Narrow pa... ORPHA:443811
Autoimmune Hepatitis
Increased total bilirubin, Thyroiditis, Sclerosing cholangitis, Jaundice, Increased circulating I... ORPHA:2137
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Flotch Syndrome
Abnormal eyelid morphology, Abnormal eyelash morphology, Inflammatory abnormality of the eye, Ble... ORPHA:2045
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Increased ci... OMIM:617388
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulat... OMIM:617514
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormality of neutrophils, Decreased circulating antibody level, Ab... ORPHA:381
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, Epicanthus OMIM:613506
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Iron deficiency anemia, Decreased mean platelet volume, Incr... OMIM:600903
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Adult-Onset Still Disease
Skin rash, Pericarditis, Elevated hepatic transaminase, Leukocytosis, Generalized lymphadenopathy... ORPHA:829
X-Linked Agammaglobulinemia
Skin rash, Hypocalcemia, Chronic otitis media, Neutropenia, Sinusitis, Conjunctivitis, Hepatitis,... ORPHA:47
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Vas... ORPHA:37748
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent pneumonia OMIM:613500
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Neutropenia OMIM:613501
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Hypereosinophilia, Sparse and t... OMIM:256500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine aminotransferas... OMIM:619386
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Ectropion, Conjunctivitis, Keratitis, Sparse and thin eyebrow, Blepharitis, Sparse ... OMIM:308800
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Elevated hepatic transaminase, Maculopapular exanthem... ORPHA:83313
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Recurrent pneumonia OMIM:612692
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Conjunctivitis, Keratitis, Sparse and thin eyebrow, Blepharitis, Sparse eyelashes OMIM:612843
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Psoriasiform dermatitis, Blepharitis, Hypocholesterolemia OMIM:616834
Legionnaires Disease
Arrhythmia, Endocarditis, Pericarditis, Hypotension, Lymphopenia, Hyponatremia, Jaundice, Hepatit... ORPHA:549
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Igg4-Related Ophthalmic Disease
Dacryocystitis, Thyroiditis, Increased circulating IgG4 level, Elevated circulating C-reactive pr... ORPHA:449563
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Decreased circulating antibody level, Hepatic steatosis... OMIM:300972
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormali... OMIM:209920
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Dacryocystitis, Intracranial hemorrhage, Pneumon... ORPHA:1163
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Increased... ORPHA:3392
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia OMIM:613502
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Immunodeficiency 70
Furuncle, Decreased circulating antibody level, Recurrent sinusitis, Decreased proportion of CD4-... OMIM:618969
Thymoma
Skin rash, Hemolytic anemia, Pericarditis, Thyroiditis, Decreased circulating antibody level, Abn... ORPHA:99867
Adult Acute Respiratory Distress Syndrome
Abnormal serum interleukin level, Hypotension, Pneumonia, Abnormality of tumor necrosis factor se... ORPHA:70578
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Elevated hepatic transaminase, Lymphadenitis, Decreased circulating antibody level, De... ORPHA:331206
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis OMIM:616394
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative ... OMIM:618935
Chilblain Lupus
Skin rash, Increased circulating antibody level, Discoid lupus rash, Malar rash, Chronic myelomon... ORPHA:90280
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Arthritis OMIM:300310
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Pericarditis, Interstitial... ORPHA:449395
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgM level, Increased circulating IgE level, Bronchiectas... OMIM:615816
Acute Lung Injury
Abnormality of serum cytokine level, Pneumonia, Abnormality of tumor necrosis factor secretion, I... ORPHA:178320
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Skin rash, Increased circulating antibody level, Lymphadenopathy OMIM:618048
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, J... OMIM:313900
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Epicanthus, Pneumonia OMIM:614069
Netherton Syndrome
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, S... ORPHA:634
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia, Bronchiectasis OMIM:193670
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Hypertension, Pancreatitis ORPHA:79084
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperpl... OMIM:615934
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Lymphadenopathy, ... ORPHA:69126
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arthritis, Enterovi... OMIM:300755
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Hyperammonemia, ... ORPHA:79312
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Min... OMIM:617006
Lymphangiectasia, Intestinal
Stillbirth, Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal h... OMIM:152800
Q Fever
Pericarditis, Cryoglobulinemia, Abnormal left ventricular function, Maculopapular exanthema, Pneu... ORPHA:781
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Thymic Tumor
Pericarditis, Palpebral edema, Neoplasm of the thymus, Ptosis, Dysgammaglobulinemia, Cardiac arre... ORPHA:100100
Leishmaniasis
Elevated hepatic transaminase, Increased circulating antibody level, Abnormal macrophage morpholo... ORPHA:507
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Jaundice, Palmar telangiectasia, Hypoalbuminemia, Cirrh... ORPHA:171
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level, Vasculitis in the skin ORPHA:90000
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Hypohidrosis, Blepharitis, Sparse eyelashes OMIM:618535
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Uveitis, Pancytopenia, Hepatomegaly, Sple... OMIM:615122
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Decreased circulating antibody level, Hepa... OMIM:301045
Chylous Ascites
Ascites, Pancreatitis ORPHA:1160
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis OMIM:300918
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Increased circulating IgM level, Interlobular bil... ORPHA:562639
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Orthostatic hypotensio... ORPHA:186
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Increased circulating ant... ORPHA:449432
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Acute leukemia... ORPHA:906
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, E... OMIM:614493
Lichen Planus Pemphigoides
Conjunctivitis, Blepharitis ORPHA:254478
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Panhypo... OMIM:307200
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Pann... OMIM:617591
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Increased circulating IgE level, Chronic otitis media, Eczema, Osteomyelitis, Eosinoph... ORPHA:2314
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Marburg Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Subconjunctival hemorrhage... ORPHA:99826
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Hemophagocytosis, Neutropenia, Thrombocy... OMIM:603552
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Cardiomyopathy,... ORPHA:27
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Keratitis, Keratoconjunctivitis sicca, Loss of eyelashes, C... ORPHA:163934
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Maculopapular exanthema, Neutropenia, Ab... ORPHA:540
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Ichthyosis, Congenital, Autosomal Recessive 11
Hypohidrosis, Sparse and thin eyebrow, Blepharitis OMIM:602400
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level, Rheumatoid arth... ORPHA:227990
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Generalized lym... OMIM:614700
Urban-Rogers-Meyer Syndrome
Upslanted palpebral fissure, Increased circulating IgE level, Epicanthus ORPHA:3409
Autoimmune Polyendocrinopathy Type 3
Graves disease, Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level,... ORPHA:227982
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Pustule, T lymphocytopenia, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Lymphocytosis, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Hypotension, Neutropenia, Fetal ascites,... ORPHA:292
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Cerebellar hemorrhage, Thrombocytopenia, Hepatomegaly, Tubulointerstitial nephri... OMIM:251000
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Cryoglobulinemic Vasculitis
Cryoglobulinemia, Gastrointestinal hemorrhage, Viral hepatitis, Circulating immune complexes, Hep... ORPHA:91138
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Hypertriglyceridemia, Splenomegaly OMIM:619175
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of n... ORPHA:1830
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Caroli Syndrome
Conjugated hyperbilirubinemia, Melena, Jaundice, Leukopenia, Hypersplenism, Cirrhosis, Intrahepat... ORPHA:480520
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Mahvash Disease
Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Clouston Syndrome
Conjunctivitis, Sparse and thin eyebrow, Blepharitis, Sparse eyelashes OMIM:129500
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Complement deficiency, Elevated circulating C-re... ORPHA:449427
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Hepatomegaly, Glomerulonephritis, Chronic decreased... OMIM:613496
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Pancreatitis, Sp... ORPHA:2348
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Cholangi... OMIM:600803
Ifap Syndrome 2
Keratitis, Posterior blepharitis, Angular cheilitis, Keratoconjunctivitis sicca OMIM:619016
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Xerostomia, Jaundice, Keratoconjunctivit... OMIM:260480
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Hashimoto thyr... ORPHA:275
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Septic a... OMIM:617780
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h... OMIM:618116
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Decreased circulating antibody level, Abn... ORPHA:2585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent peripheral lymph nodes in presence of infection, Abse... OMIM:600802
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Chronic otitis media, Epicanthus, Long eyelashes, Pulmonary arterial hyper... ORPHA:261279
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Orthostatic hypotension, Hypertriglyceridemia, Pancreatitis OMIM:606721
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Leukopenia... ORPHA:470
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertriglyceridemia, Hypertension, Acute pancreatitis OMIM:608600
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Ptosis, Decreased c... OMIM:613385
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Increased inflamma... ORPHA:727
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Increased circulating antibody lev... OMIM:170100
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Elevated circulating C-reactive protein... ORPHA:1304
Coccidioidomycosis
Peritonitis, Skin rash, Pericarditis, Pneumonia, Vasospasm, Increased circulating IgG level, Cere... ORPHA:228123
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Neutropenia, Cerebellar hemorrhage, Pancyt... OMIM:606054
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Epicanthus, Pneumonia, Reduce... OMIM:242860
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Hypocalcemia, Elevated circulating creatinine concentration, Pneumonia, H... ORPHA:36234
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sp... OMIM:616005
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Hemophagocy... ORPHA:39812
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Leukocytosis, Hypotension, Pancreatitis, Myocarditis ORPHA:188
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Hepatitis, Sparse lateral eyebrow ORPHA:363523
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Lacrimal duct atresia, Absent eyelashes, Ankyloblepharon, Conjunctivitis, Anhidrosis, Blepharitis... OMIM:106260
Drug-Induced Lupus Erythematosus
Pericarditis, Increased blood urea nitrogen, Decreased serum complement C4, Thrombocytopenia, Mal... ORPHA:231111
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Epicanthus, Elevated circulating aspartate aminotransferase concentration, E... OMIM:611182
Juvenile Xanthogranuloma
Iritis, Uveitis, Hyphema, Myeloproliferative disorder, Blepharitis ORPHA:158000
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Abdominal aseptic abscess, Lymphadenit... ORPHA:31205
Dyskeratosis Congenita
Cirrhosis, Abnormal eyebrow morphology, Abnormality of neutrophils, Periodontitis, Abnormal eyela... ORPHA:1775
Lead Poisoning
Skin rash, Increased circulating IgE level, Abnormality of humoral immunity, Hypertension, Abnorm... ORPHA:330015
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Pancytopenia, Thrombocytopenia, Reduced ... OMIM:616050
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Synovitis, Neutropenia, Sinus... ORPHA:47612
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Jaundice, Pancreatic calcification, Elevated circulating C-... ORPHA:676
Primary Lipodystrophy
Cirrhosis, Angina pectoris, Hepatic steatosis, Hypertension, Congestive heart failure, Pancreatit... ORPHA:90970
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertension, Hepatomegaly, Hypertriglyceridemia, Co... ORPHA:79083
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Pneumonia... OMIM:602450
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Hepatomegaly, Juvenile rheumatoid arthritis, Elevated circulating C-reac... ORPHA:85414
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Sézary Syndrome
Ectropion, Erythroderma, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal imm... ORPHA:3162
Pulmonary Fibrosis, Idiopathic
Pulmonary arterial hypertension, Increased circulating antibody level, Cirrhosis OMIM:178500
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myeloid leukemia, Increased circulating antibody le... ORPHA:48104
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Bronchiectasis OMIM:241600
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Elevated total serum tryptase, Maculopapular... ORPHA:98848
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Biliary... ORPHA:2552
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Hyperlipoproteinemia, Colitis OMIM:615947
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Bilateral ptosis, Cholelithiasis, Giant cell hepatitis OMIM:214980
Melioidosis
Prostatitis, Lung abscess, Cutaneous abscess, Splenic abscess, Acute infectious pneumonia, Pneumo... ORPHA:31202
Acrodermatitis Enteropathica
Pustule, Abnormal eyebrow morphology, Abnormal eyelid morphology, Cheilitis, Conjunctivitis, Blep... ORPHA:37
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Avian Influenza
Myelitis, Elevated hepatic transaminase, Lymphopenia, Increased circulating lactate dehydrogenase... ORPHA:454836
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia, Downslanted palpeb... ORPHA:2643
Tempi Syndrome
Increased hematocrit, Intracranial hemorrhage, Polycythemia, Increased circulating IgG level, Asc... ORPHA:284227
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Primary Sjögren Syndrome
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... ORPHA:289390
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Abnormal T c... OMIM:242700
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Increased circulating IgD level... OMIM:260920
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Cach Syndrome
Nonketotic hyperglycinemia, Pancreatitis, Hepatosplenomegaly, Optic neuritis ORPHA:135
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Arrhythmia, Vacuolated lymphocytes, Angina pectoris, Hepatomegaly, Pancreatitis, Sp... ORPHA:565612
Roifman Syndrome
Noncompaction cardiomyopathy, Prominent eyelashes, Decreased circulating antibody level, Recurren... ORPHA:353298
Congenital Erythropoietic Porphyria
Scleritis, Hemolytic anemia, Ectropion, Increased erythrocyte protoporphyrin concentration, Retic... ORPHA:79277
Subcorneal Pustular Dermatosis
Pustule, Hypothyroidism, Rheumatoid arthritis, Increased circulating antibody level, Hyperthyroidism ORPHA:48377
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Cardiogenic shock, Reduced... ORPHA:563
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia, Shock, Decreased circulating IgG level OMIM:600351
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thyroiditis, Lymphopeni... ORPHA:391487
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Elevated circulating ... OMIM:614921
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadenopathy, Chronic hepatitis, ... ORPHA:3260
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Decreased circulating IgG level, Central adrenal ins... OMIM:615577
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia, Downslanted palpeb... OMIM:251190
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased plasma carnitine, Abnormal circulating carnitine concentration, Decreased activity of N... ORPHA:431361
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Decreased serum iron, Hepatitis OMIM:614602
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, ... OMIM:611762
Immunodeficiency 66
Pustule, Recurrent skin infections, Defective T cell proliferation OMIM:618847
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:300861
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Incr... ORPHA:400
Hepatoerythropoietic Porphyria
Scleritis, Hemolytic anemia, Ectropion, Recurrent bacterial skin infections, Erythroid hyperplasi... ORPHA:95159
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Hyperlipidemia ORPHA:435651
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Colitis, Splenomegaly, B lymphocytopenia, Recurrent pneumonia, Ly... OMIM:619164
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymphopenia, Chylous ascites... ORPHA:90363
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Eec Syndrome
Hypohidrosis, Anterior hypopituitarism, Hypoplasia of the thymus, Xerostomia, Thick eyebrow, Kera... ORPHA:1896
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Ele... ORPHA:90038
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Decreased proportion of memory B cells, Panhypogammaglobulinemi... ORPHA:79124
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Panniculitis, Abnormal cardiovascular system physiology, Hypertensi... ORPHA:79086
Neonatal Inflammatory Skin And Bowel Disease
Pustule, Chapped lip, Horizontal eyebrow, Recurrent bacterial skin infections, Left ventricular h... ORPHA:294023
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Hepatomegaly, Congestive hea... OMIM:602390
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Neutropenia, Colitis, Eczema, Decreased c... OMIM:608809
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Vasculit... ORPHA:343
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Acute hepatic failure, Neutropenia in presence of anti-ne... ORPHA:228426
Lambert Syndrome
Intrahepatic biliary atresia, Decreased circulating antibody level, Jaundice, Cholestasis ORPHA:1296
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hypotension, Decreased circulating cortisol ... ORPHA:199296
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis, Retinal hemorrhage, Conjunctival hype... ORPHA:863
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Cardiomeg... OMIM:256040
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Abnormality of the thymus, Primary adrenal insufficiency... ORPHA:589
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Arrhythmia, Elevated hepatic transaminase, Increased circulating lact... ORPHA:26791
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Hypocalcemia, Hemolytic anemia, Leukocytosis, Hypertensive crisis, Pneumonia, Sept... ORPHA:544482
Leukonychia Totalis
Abnormal eyelash morphology, Blepharitis ORPHA:2387
Common Variable Immunodeficiency
Hemolytic anemia, Elevated hepatic transaminase, Bronchiectasis, Autoimmune thrombocytopenia, Dec... ORPHA:1572
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Thrombocy... ORPHA:169105
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Scrub Typhus
Skin rash, Hypotension, Hyperhidrosis, Encephalitis, Anterior uveitis, Splenomegaly, Myocarditis,... ORPHA:83317
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Decreased circulating antibody level, Epicanthus, Synophrys, Ptosis, Decre... OMIM:617062
Dyskeratosis Congenita, X-Linked
Cirrhosis, Pancytopenia, Conjunctivitis, Thrombocytopenia, Acute myeloid leukemia, Hyperhidrosis,... OMIM:305000
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
American Trypanosomiasis
Skin rash, Arrhythmia, Lymphadenopathy, Hepatomegaly, Congestive heart failure, Encephalitis, Spl... ORPHA:3386
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Hepatomegaly, Xerostomia,... ORPHA:809
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Enlarged kidney, Macrovesicular hepatic steatosis, Epicanthus, N... OMIM:617303
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Decreased proportion of CD8-positive T cells, Chronic oral candidiasis,... ORPHA:911
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Hypohidrosis, Cirrhosis, Elevated hepatic transaminase, Decr... OMIM:614576
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Familial Mediterranean Fever
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Orchitis, Acute hepatic failure, Myocardial inf... ORPHA:342
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Neutropeni... OMIM:232220
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Jaundice, Cho... OMIM:613404
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Pulmonary embolism, Cerebral ischemia, ... ORPHA:117
Cryptosporidiosis
Decreased proportion of CD4-positive helper T cells, Biliary tract abnormality, Cholangitis, Abno... ORPHA:1549
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Maple Syrup Urine Disease
Elevated plasma branched chain amino acids, Elevated circulating L-alloisoleucine concentration, ... OMIM:248600
Ataxia-Telangiectasia
Conjunctival telangiectasia, T lymphocytopenia, Defective B cell differentiation, Bronchiectasis,... OMIM:208900
Mccune-Albright Syndrome
Hypophosphatemia, Elevated circulating growth hormone concentration, Increased circulating cortis... ORPHA:562
C3 Glomerulopathy
Elevated circulating creatinine concentration, Decreased serum complement C4, Hypertension, Membr... ORPHA:329918
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Elevated hepatic transaminase, Leukocytos... OMIM:610377
Zygomycosis
Peritonitis, Pericarditis, Neutropenia, Melena, Sinusitis, Myocarditis, Endocarditis, Chemosis, S... ORPHA:73263
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Perianal abscess, Pulmon... ORPHA:444490
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Hyperbilirubinemi... ORPHA:521219
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Hypothyroidism, Uveitis, Hyponatremia, He... ORPHA:3452
Peripheral Primitive Neuroectodermal Tumor
Increased circulating lactate dehydrogenase concentration, Elevated alpha-fetoprotein, Pelvic mas... ORPHA:370348
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Bronchiectasis, ... OMIM:150550
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Epicanthus, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic ... OMIM:610199
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgA level, Elevated circulating creat... ORPHA:29073
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Pulmonary arterial hypertension... OMIM:278000
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Pulmonary arterial hypertension, Biliary tract o... ORPHA:77259
Insulin-Resistance Syndrome Type B
Skin rash, Hypotriglyceridemia, Enlarged ovaries, Decreased serum complement factor B, Biliary ci... ORPHA:2298
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Thrombocytopenia, ... ORPHA:448237
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Myocardial infarction, Pancreatitis, Hyperhomocystinemia OMIM:236200
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones... ORPHA:209902
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Classic Mycosis Fungoides
Skin rash, Abnormal eyelid morphology, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly... ORPHA:2584
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hyperurice... OMIM:232200
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Hematochezia, Autoimmune hemolytic anemia, Abnormal abdomen morphology, Hypo... OMIM:243150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Hyperuricemia, Anemia, Hyperlipidemia, Enlarged k... ORPHA:79259
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Anemi... OMIM:615688
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Angina pectoris, Abnormal he... ORPHA:464343
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Increased inflamma... ORPHA:900
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Xeroderma Pigmentosum
Conjunctival telangiectasia, Ectropion, Ankyloblepharon, Telangiectasia of the skin, Keratitis, P... ORPHA:910
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Hyperammonemia OMIM:238970
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Supraventricular arrhythmia, Hepatic steatosis, Hepatomegaly, Hypertrigly... ORPHA:280365
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Iridocyclitis, Pancreatitis ORPHA:412057
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Colitis OMIM:615190
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Elevated circulating C-reactive protein concent... OMIM:120100
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Jaundice, Cho... OMIM:208085
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hypothyroidism, Hepatic steatosis, Acute panc... ORPHA:412
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Reduced ejection fraction, Arrhythmia, Elevated hepatic transaminase, Increased serum ... ORPHA:542323
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Primary adrenal insufficiency,... OMIM:240300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia, Epicanthus OMIM:616910
Lichen Planopilaris
Hepatitis, Pterygium ORPHA:525
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Immunodeficiency 32B
Splenomegaly, Pneumonia, Bronchiectasis, Sinusitis OMIM:226990
Kawasaki Disease
Skin rash, Arrhythmia, Pericarditis, Leukocytosis, Cheilitis, Conjunctivitis, Hepatitis, Jaundice... ORPHA:2331
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Elevated hepatic transaminase, Leukocytosis, Abnormali... ORPHA:297
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Shigellosis
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Uve... ORPHA:810
Amyloidosis, Familial Visceral
Skin rash, Hypertension, Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Hypotension, Hyperuricemia, Acute pa... ORPHA:20
Moebius Syndrome
Ptosis, Epicanthus, Blepharitis ORPHA:570
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Upslanted palpebral fissure, Epicanthus, Elevated alpha-fetoprotein, Synophrys, Right ventricular... ORPHA:280633
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly,... OMIM:607616
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia ORPHA:1116
Immune-Mediated Necrotizing Myopathy
Palpitations, Skin rash, Congestive heart failure, Myocarditis, Elevated circulating creatine kin... ORPHA:206569
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Large vessel vasculitis, Uveitis, Conju... ORPHA:728
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Skin rash, Hemophagocytosis, Increased total biliru... OMIM:603553
Cystic Fibrosis
Hepatomegaly, Decreased circulating antibody level, Biliary cirrhosis, Exocrine pancreatic insuff... ORPHA:586
Neonatal Lupus Erythematosus
Skin rash, Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, A... ORPHA:398124
Stevens-Johnson Syndrome
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormality of neutrophils, Acute hep... ORPHA:36426
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Pulmonary hemorrhage, Intraalveol... OMIM:222700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Thrombocytopenia, Hepatomegaly, Bone... ORPHA:3226
Limb-Mammary Syndrome
Hypohidrosis, Lacrimal duct atresia, Sparse eyebrow, Chronic irritative conjunctivitis, Psoriasif... ORPHA:69085
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytop... OMIM:603554
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Decreased circulating antibody level, Bu... OMIM:226300
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism, Pancreatitis OMIM:145981
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Hyperparathyroidism, Pancreatitis OMIM:145980
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Alstrom Syndrome
Elevated hepatic transaminase, Chronic active hepatitis, Hypothyroidism, Hepatic steatosis, Hyper... OMIM:203800
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Th... OMIM:233600
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Cholestasis, Hepatitis, Cholestatic liver disease, Anemia, Portal ... ORPHA:440713
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hepatic steat... ORPHA:567983
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hypohidrosis, Scleritis, Abnormal eyelid morphology, Abnormal eyelash morphology, Thin eyebrow, U... ORPHA:2273
Myotonic Dystrophy 2
Palpitations, Elevated circulating creatine kinase concentration, Tachycardia, Decreased circulat... OMIM:602668
Spondyloenchondrodysplasia
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypothyroidism, Granuloma, P... ORPHA:1855
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Increased circulating antibody level, Hep... ORPHA:284
Antisynthetase Syndrome
Skin rash, Aortic regurgitation, Elevated circulating creatine kinase concentration, Telangiectas... ORPHA:81
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... ORPHA:79301
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Bundle branch block, Polysplenia, Cardiomyopathy, Hepatoblastoma... ORPHA:373
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Low alkaline phosphatase, Splenomegaly OMIM:201100
Late-Onset Isolated Acth Deficiency
Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension, Hyp... ORPHA:199299
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Ataxia-Telangiectasia
Elevated hepatic transaminase, Decreased circulating antibody level, Lymphopenia, Aplasia/Hypopla... ORPHA:100
Leptospirosis
Skin rash, Pulmonary hemorrhage, Arrhythmia, Elevated serum transaminases during infections, Peri... ORPHA:509
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Toxic Epidermal Necrolysis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Acute hepatic failure, Neutropenia, T... ORPHA:537
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Anemia, Splenomegaly, Recurr... OMIM:612840
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Leukocytosis, Uveitis, Orchitis, Conjunctivitis, Erysipelas... ORPHA:32960
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Decreas... OMIM:618131
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Keratoconjunctivitis s... OMIM:617321
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Conjunctivitis, Elevated circulating C-reactive protein co... OMIM:191900
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Vasculitis, Endocarditis, Increased inflammatory response, Recurrent intrapulmonary he... ORPHA:183
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Myocarditis ORPHA:2724
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Lacrimal duct stenosis, Dermatochalasis, Chronic oral candidiasis, Palpebral edema, Decreased spe... ORPHA:221139
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Roifman Syndrome
Recurrent pneumonia, Noncompaction cardiomyopathy, Prominent eyelashes, Recurrent otitis media, L... OMIM:616651
Wilson Disease
Cirrhosis, Hemolytic anemia, Hypoparathyroidism, Hepatocellular carcinoma, Hepatomegaly, Atypical... OMIM:277900
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Epicanthus, Hepatomegaly, Ptosis, Congesti... OMIM:269920
Gaucher Disease
Cirrhosis, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Hepatitis, Hepat... ORPHA:355
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Elevated hepatic transamina... OMIM:616860
Classic Hodgkin Lymphoma
Skin rash, Hepatomegaly, Hyperhidrosis, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Malignant Atrophic Papulosis
Constrictive pericarditis, Abnormal conjunctiva morphology, Gastrointestinal hemorrhage OMIM:602248
Scleroderma
Hypohidrosis, Myelitis, Pericarditis, Intestinal bleeding, Right ventricular failure, Uveitis, Sy... ORPHA:801
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Conjunctivitis, Eczema, Recurrent skin infections OMIM:603165
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Elevated aldolase level, Elevated circulat... ORPHA:732
Caffey Disease