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Gene: Ciita MGI:108445

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
class II transactivator
Synonyms:
Gm9475,  C2ta

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Ciita 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.

The table below shows human diseases associated to Ciita by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Rheumatoid factor positive, Rheumatoid arthritis OMIM:180300

The table below shows human diseases predicted to be associated to Ciita by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve... OMIM:615897
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio... ORPHA:57196
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Osteoporosis
Osteoporosis OMIM:166710
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia ORPHA:100024
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Decreased circulating antibody level, Lymphadenopathy, Hepatos... OMIM:618261
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Immunodeficiency 48
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... OMIM:269840
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Recurrent opportunistic infections, Increased circulating ... ORPHA:277
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Winchester Syndrome
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis OMIM:277950
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Lymphadenopathy, Increased proporti... OMIM:618982
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout OMIM:610947
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Rosaï-Dorfman Disease
Osteolysis, Anemia ORPHA:158014
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphadenopa... OMIM:240500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:2787
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Isolated Glycerol Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:408
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo... OMIM:614470
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... OMIM:615592
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis... ORPHA:411593
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity OMIM:612227
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, In... OMIM:616098
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Chylous Ascites
Pancreatitis ORPHA:1160
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Ollier Disease
Osteolysis, Anemia, Joint stiffness ORPHA:296
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia ORPHA:37748
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612287
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... OMIM:612852
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... OMIM:615122
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma... ORPHA:93160
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... ORPHA:83471
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... OMIM:613101
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... ORPHA:397596
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness ORPHA:66627
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Osteoporosis, Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:614727
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno... ORPHA:79230
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to ... OMIM:601457
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Carpal ... ORPHA:2774
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Ramon Syndrome
Osteolysis ORPHA:3019
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Juvenile Paget Disease
Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec... ORPHA:2801
Immunodeficiency 104
Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Lymphadenopa... OMIM:608971
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... ORPHA:98850
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis... ORPHA:324964
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, H... ORPHA:169160
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... OMIM:613179
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia OMIM:608600
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Hypoglycemia, Pancreatitis, Adrenal insufficiency OMIM:619386
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Pancreatitis, Microcytic anemia OMIM:618805
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612286
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... OMIM:616740
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... ORPHA:331235
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Osteoporosis OMIM:616033
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, ... OMIM:251000
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Decreased proportion of class-switched ... OMIM:619126
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Osteoporosis OMIM:601979
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... ORPHA:69663
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:613011
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... ORPHA:65682
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract... ORPHA:52430
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis ORPHA:391
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... OMIM:618108
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytop... OMIM:606054
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Spleno... OMIM:616100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... ORPHA:371428
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Recurre... OMIM:618048
Indolent Systemic Mastocytosis
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... ORPHA:98848
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:614880
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Prieto Syndrome
Osteoporosis OMIM:309610
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Osteoporosis ORPHA:79301
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... OMIM:602450
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Immunodeficiency 66
Defective T cell proliferation, Meningitis, Sepsis OMIM:618847
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Immunodeficiency 19
Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce... OMIM:615617
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... OMIM:259450
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Felty Syndrome
Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Arthritis, N... ORPHA:47612
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures OMIM:126550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hyperlipidemia, Osteoporosis ORPHA:369
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Joint stiffness ORPHA:137834
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib... ORPHA:33355
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema... OMIM:301080
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Insulin-res... ORPHA:79083
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Short Stature, Dauber-Argente Type
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... OMIM:619489
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Perrault Syndrome 1
Osteoporosis OMIM:233400
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Osteoporosis ORPHA:319195
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellu... ORPHA:549
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Sialidosis Type 2
Splenomegaly, Flexion contracture, Osteoporosis ORPHA:87876
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pancreatitis, Pericarditis ORPHA:188
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph... OMIM:620210
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration OMIM:615923
Bruck Syndrome
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:2771
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... OMIM:618116
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:2348
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Lymphadenopathy, Decreased circulating antibody level, Hepatos... ORPHA:353298
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis ORPHA:435651
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, BCGitis, Recurrent in... OMIM:226990
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis OMIM:613849
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Pancreatitis ORPHA:70578
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:618392
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... OMIM:615816
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures ORPHA:2788
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... ORPHA:2583
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia, Reduced bone mineral density ORPHA:172
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Abnormality of thyroid physiology, Minimal change glomerulonephritis, Thrombocytope... ORPHA:1830
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c... OMIM:616576
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste... ORPHA:2848
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Cach Syndrome
Optic neuritis, Pancreatitis, Hepatosplenomegaly ORPHA:135
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Autoimmunity, Lymphocytosis ORPHA:79087
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Hall-Riggs Syndrome
Osteoporosis OMIM:234250
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects... ORPHA:90153
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Osteolysis, Osteolytic defects of the distal phalanges of the hand, A... ORPHA:90154
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:79086
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... OMIM:301000
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... OMIM:617253
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Red... OMIM:619795
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Hyperparathyroidism 2 With Jaw Tumors
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma OMIM:145001
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Cranioectodermal Dysplasia
Joint hyperflexibility, Osteoporosis, Craniosynostosis ORPHA:1515
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... ORPHA:249
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Immunodeficiency 40
Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia... OMIM:616433
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones ORPHA:93351
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... ORPHA:2796
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis OMIM:257200
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Gout, In... OMIM:232220
Menkes Disease
Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis OMIM:309400
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of neutrop... ORPHA:229717
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia OMIM:266510
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Hypothyroidism, Pancreatitis ORPHA:412057
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade... OMIM:614700
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... ORPHA:2552
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ... OMIM:208230
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Hemochromatosis, Type 1
Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, Osteoporosis OMIM:235200
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Mixed Connective Tissue Disease
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Arthritis, Leukopenia ORPHA:809
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Osteoporosis, Recurrent fractures, Flexion contracture of toe ORPHA:3409
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... ORPHA:2169
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... ORPHA:793
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Elevated circulating uroporphyrin concent... OMIM:263700
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac... OMIM:214150
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Recurrent fractures, Joint hypermobility OMIM:619131
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... OMIM:239000
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia ORPHA:30
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Werner Syndrome
Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density OMIM:277700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis OMIM:615830
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... ORPHA:93126
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin conce... ORPHA:79277
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Vacuolated l... ORPHA:565612
Immunodeficiency 12
Osteoporosis, Abnormal lymphocyte count OMIM:615468
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Joint contracture, Hypertriglyceridemia, Osteoporosis OMIM:615381
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... ORPHA:507
H Syndrome
Hypertriglyceridemia, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Cam... ORPHA:168569
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... ORPHA:444490
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:264700
Classic Galactosemia
Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density ORPHA:79239
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Xp21 Deletion Syndrome
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... ORPHA:261476
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Hypermethioninemia, Generalized ... OMIM:236200
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:66628
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis OMIM:610475
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... ORPHA:464321
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis, Hyperphosphatemia OMIM:103580
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Immunodeficiency 32A
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma OMIM:614893
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal... ORPHA:540
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th... OMIM:259100
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis OMIM:232200
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Osteolysis ORPHA:678
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:179494
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Abnormal ly... OMIM:612840
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumula... ORPHA:20
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia OMIM:612462
Nasu-Hakola Disease
Bone cyst, Acute leukemia, Limitation of joint mobility, Reduced bone mineral density ORPHA:2770
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration OMIM:607748
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:277440
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Spondylo-Ocular Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:85194
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis, Anemia ORPHA:370348
Kaposiform Lymphangiomatosis
Fractures of the long bones, Thrombocytopenia, Splenomegaly, Osteolysis, Hepatosplenomegaly, Abno... ORPHA:464329
Rhyns Syndrome
Osteopenia, Osteoporosis OMIM:602152
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... ORPHA:293964
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellularity, N... OMIM:617303
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2235
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Chronic neutropenia, Enterocolitis, Hypoglycemic s... ORPHA:79259
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia OMIM:612562
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Anemia, Recurrent infections, Increased circulating antibody level... OMIM:617591
Dietary Iron Overload Disease
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Elev... ORPHA:139507
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Osteopo... ORPHA:95159
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis OMIM:219080
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... OMIM:260920
Geroderma Osteodysplastica
Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification ORPHA:2078
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level,... OMIM:619750
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Elevated circulating creatine kinase concentration, Shoulder flexion contracture... OMIM:255800
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia OMIM:612301
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Amish Lethal Microcephaly
Decreased skull ossification, Osteoporosis, Limitation of joint mobility ORPHA:99742
Familial Dysautonomia
Hyponatremia, Recurrent fractures, Osteolysis ORPHA:1764
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Splenomegaly, Recurrent fractures, Anemia OMIM:618107
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol... ORPHA:90038
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... ORPHA:355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hepatomegaly, Gout, Hypothyroidism ORPHA:412
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Increased circulating ferritin concentration, Elevated transferrin saturation, S... ORPHA:465508
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Mccune-Albright Syndrome
Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Chol... ORPHA:562
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Lymphadenopathy ORPHA:3162
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Chilblains, Portal hyperte... OMIM:619487
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Zygomycosis
Brain abscess, Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Pustule, Myocard... ORPHA:73263
Odontochondrodysplasia 1
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility OMIM:184260
Lysinuric Protein Intolerance
Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Thrombocytopeni... OMIM:222700
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis OMIM:619718
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:280365
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Osteoporosis ORPHA:785
Perrault Syndrome 4
Osteoporosis OMIM:615300
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Eczema, Thrombocyt... ORPHA:3260
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Splenomegaly, Ly... ORPHA:1572
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Thrombocytopenia OMIM:613990
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Prostatitis, G... ORPHA:900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi... OMIM:618000
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density OMIM:616507
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... OMIM:231070
Mirizzi Syndrome
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... ORPHA:521219
Cantu Syndrome
Osteoporosis OMIM:239850
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Osteoporosis OMIM:616200
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenism, Hypothyroidism, Anti... ORPHA:228426
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Abscess, Pneumonia, Erythema nodosum, Abnor... ORPHA:228123
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L... OMIM:127550
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia ORPHA:35687
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Omenn Syndrome
Hepatomegaly, Eosinophilia, Autoimmunity, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Ery... ORPHA:39041
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Eosinophilia, Ant... ORPHA:449395
Bullous Pemphigoid
Psoriasiform dermatitis, Diabetes mellitus, Eczema, Autoimmunity ORPHA:703
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... ORPHA:309282
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Lym... OMIM:304790
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Stomatitis, Chronic pancreatitis, Gout, Inflammat... OMIM:232240
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Autoimmunity, Splenomegaly, Hepatitis, Systemic lu... ORPHA:158061
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density ORPHA:1399
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Antinuclear antibody positivity, Keratitis, Retroperitoneal... ORPHA:449563
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Decreased calv... OMIM:259420
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Recurrent candida infections OMIM:201100
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis ORPHA:247585
Pontocerebellar Hypoplasia, Type 2E
Flexion contracture, Osteoporosis OMIM:615851
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia OMIM:224230
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... ORPHA:342
Congenital Myopathy 22A, Classic
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture... OMIM:620351
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegal... OMIM:613327
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Desbuquois Dysplasia 1
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... OMIM:251450
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal circulating C-reactive protein concentration, Limitation of joint mobility, Abnormality ... ORPHA:1159
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis ORPHA:26791
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter... ORPHA:93284
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... ORPHA:227990
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Increased susceptib... ORPHA:2909
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Osteoporosis OMIM:610489
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density OMIM:620232
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ... ORPHA:955
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc... ORPHA:470
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... ORPHA:227982
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Hypocalcemia, Thrombocytosis OMIM:212750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Tubulointerstitial... ORPHA:37042
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Diabetes mellitus, Acute colitis, Pneumonia, Myocarditis, Leukoc... ORPHA:544482
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Severe inf... ORPHA:2686
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Decreased circulating antibody level, ... ORPHA:381
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo... ORPHA:79240
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Conjunctivitis, Pancreatitis, Anemia ORPHA:36426
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture OMIM:614438
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rhe... ORPHA:85414
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... ORPHA:1652
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Pericarditis, Hypoglycemia, Maculopapular exanthema, Skin rash, Orc... ORPHA:99826
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... OMIM:219700
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Leukopenia, Fasting hypoglycemia, ... ORPHA:2298
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... ORPHA:117
Toxic Epidermal Necrolysis
Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... ORPHA:297
Lowry-Maclean Syndrome
Osteopenia, Osteoporosis, Craniosynostosis ORPHA:2409
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Osteoporosis, Lambdoidal craniosynostosis OMIM:615398
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Joint stiffness, Hyperlipidemia, Flexion contracture, Elbow flexion contr... OMIM:248370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:614162
Phakomatosis Pigmentovascularis
Reduced bone mineral density ORPHA:2875
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Cryptococcosis
Lymphoid leukemia, Osteomyelitis, Osteolysis ORPHA:1546
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Osteoporosis OMIM:617190
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density... ORPHA:94068
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular... ORPHA:505248
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Anemia ORPHA:3042
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... ORPHA:198
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus ORPHA:90036
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Incontinentia Pigmenti
Camptodactyly of finger, Eosinophilia, Osteolysis ORPHA:464
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Osteoporosis OMIM:219090
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Generalized osteop... ORPHA:2959
Chikungunya
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... ORPHA:324625
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Functioning Gonadotropic Adenoma
Osteopenia, Osteoporosis ORPHA:91348
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of... OMIM:608612
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Lassa Fever
Increased circulating IgM level ORPHA:99824
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphaden... OMIM:614034
Ataxia-Telangiectasia
Decreased circulating IgG level, Recurrent bronchitis, Decreased circulating IgG2 level, Acute ly... OMIM:208900
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Rift Valley Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia ORPHA:319251
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly ORPHA:432
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Aromatase Deficiency
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Hyperlipidemia ORPHA:91
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Finger symphalangis... ORPHA:221016
Melas
Hypoparathyroidism, Diabetes mellitus, Recurrent pancreatitis, Type II diabetes mellitus, Type I ... ORPHA:550
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Osteoporosis ORPHA:2326
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Finger symphalangis... ORPHA:221008
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hyperlipidemia, Reduced bone mineral density ORPHA:1414
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi... OMIM:608594
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis OMIM:300635
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... OMIM:277900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Pathologic fra... OMIM:612199
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification OMIM:226980
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Hyperinsulinemia, Insuli... OMIM:269700
Macs Syndrome
Joint laxity, Osteoporosis, Joint hypermobility OMIM:613075
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... ORPHA:169090
Cerebrotendinous Xanthomatosis
Abnormal circulating cholesterol concentration, Osteoporosis OMIM:213700
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia OMIM:613388
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... ORPHA:2614
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi... ORPHA:186
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility ORPHA:363705
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Autoimmunity ORPHA:405
Brucellosis
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukope... ORPHA:1304
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Farber Disease
Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthritis, Anemia ORPHA:333
Chime Syndrome
Osteolysis, Acute leukemia ORPHA:3474
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
X Small Rings
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:96201
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Singleton-Merten Syndrome 2
Osteopenia, Osteolytic defects of the phalanges of the hand OMIM:616298
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... OMIM:607330
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... OMIM:112240
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... OMIM:618268
Mucopolysaccharidosis, Type Ivb
Joint laxity, Osteoporosis, Joint stiffness OMIM:253010
Adrenomyodystrophy
Reduced bone mineral density ORPHA:977
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocyto... ORPHA:77293
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no... ORPHA:543
Mucopolysaccharidosis, Type Iva
Joint laxity, Osteoporosis OMIM:253000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Recurrent fractures, Craniosynostosis, Joint hypermobility, Osteoporosis, Elbow flexi... OMIM:245600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex OMIM:309583
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thrombocytosis, Lym... OMIM:615934
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... ORPHA:391487
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur... ORPHA:1900
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Erythema nodosum, Spleno... ORPHA:99827
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Glycerol Kinase Deficiency
Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia OMIM:307030
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Leukopenia, Decrea... OMIM:615688
Caffey Disease
Increased circulating antibody level ORPHA:1310
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Abnormality of neutrophils, Splenomegaly, Leukemia, Monoclon... ORPHA:33226
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis OMIM:300998
Visceral Myopathy 1
Pancreatitis OMIM:155310
Cantú Syndrome
Osteoporosis ORPHA:1517
Cleidocranial Dysplasia
Decreased skull ossification, Osteoporosis, Recurrent fractures ORPHA:1452
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Dec... OMIM:619381
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ... ORPHA:90033
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis ORPHA:398079
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ... OMIM:601812
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... ORPHA:79078
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Diabetes mellitus, Liver abscess, Autoimmunity, Cholangitis, ... ORPHA:183675
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Dyskeratosis Congenita
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, An... ORPHA:1775
Occipital Horn Syndrome
Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... OMIM:304150
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... ORPHA:168558
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... OMIM:166220
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... ORPHA:289548
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Stuve-Wiedemann Syndrome 1
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac... OMIM:601559
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Prolactinoma
Osteopenia, Osteoporosis ORPHA:2965
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr... OMIM:102500
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... OMIM:259770
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Osteoporosis ORPHA:398069
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:99880
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia OMIM:170100
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad... ORPHA:536467
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:143
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Elevated circulat... ORPHA:800
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Jaundice, Pancreatic hyperplasia, Thro... ORPHA:99829
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density ORPHA:652
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Osteoporosis ORPHA:488632
Glass Syndrome
Generalized osteoporosis, Camptodactyly OMIM:612313
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Anti-thyroid peroxidase antibody pos... ORPHA:64744
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia, Reduced bone mineral density ORPHA:935
Classic Homocystinuria
Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:394
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Cholecystitis, Hepatic steatosis ORPHA:98908
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis ORPHA:2232
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Osteoporosis ORPHA:98754
Prader-Willi Syndrome
Osteopenia, Osteoporosis, Increased susceptibility to fractures ORPHA:739
Immunodeficiency 55
Absent natural killer cells, Recurrent infections, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly OMIM:249420
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Osteoporosis ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Osteoporosis ORPHA:177904
Prader-Willi Syndrome
Osteopenia, Osteoporosis OMIM:176270
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Abnormal... ORPHA:3243
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Osteoporosis ORPHA:177901
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
17Q11 Microdeletion Syndrome
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones ORPHA:97685
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... ORPHA:54251
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... ORPHA:79330
Autosomal Dominant Progressive External Ophthalmoplegia
Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:254892
Scorpion Envenomation
Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia ORPHA:466677
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, R... OMIM:617718
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Osteoporosis, Joint laxity OMIM:225400
Menkes Disease
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility ORPHA:565
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Congenital Disorder Of Deglycosylation 1
Hyperalaninemia, Osteoporosis, Elevated circulating alpha-fetoprotein concentration OMIM:615273
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Anemia, Iron deficiency an... ORPHA:79408
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Splenomegaly, Medias... OMIM:181000
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Hypermobile Ehlers-Danlos Syndrome
Joint hyperflexibility, Osteoarthritis, Limitation of joint mobility, Osteolysis ORPHA:285
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... OMIM:271640
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Cystic Echinococcosis
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess ORPHA:400
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type... OMIM:606721
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Recurrent fractures, Camptodactyly ORPHA:3063
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:365
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Thrombocytopenia OMIM:305000
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali... ORPHA:536471
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... OMIM:620005
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint... ORPHA:79474
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture... ORPHA:666
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... ORPHA:89936
Cranioectodermal Dysplasia 1
Joint laxity, Osteoporosis, Hypocalcemia, Sagittal craniosynostosis OMIM:218330
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis ORPHA:96253
Rothmund-Thomson Syndrome, Type 2
Osteoporosis OMIM:268400
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Osteoporosis, Joint hypermobility ORPHA:536545
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:90796
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... OMIM:242900
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Osteoporosis OMIM:203700
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility ORPHA:558
Cerebrotendinous Xanthomatosis
Osteopenia, Osteoporosis, Increased susceptibility to fractures ORPHA:909
Tsh-Secreting Pituitary Adenoma
Osteopenia, Hypokalemia, Osteoporosis ORPHA:91347
Cystic Fibrosis
Osteopenia, Osteoporosis ORPHA:586
Cockayne Syndrome B
Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the... OMIM:133540
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Dpagt1-Cdg
Flexion contracture, Osteoporosis, Anemia, Camptodactyly ORPHA:86309
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Hardikar Syndrome
Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia OMIM:301068
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level OMIM:613385
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Severe Generalized Junctional Epidermolysis Bullosa
Osteoporosis, Abnormal blood ion concentration, Anemia ORPHA:79404
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia OMIM:619525
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe generalized osteoporosis, Knee flexion contracture OMIM:210730
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... ORPHA:284984
Primary Sjögren Syndrome
Normocytic anemia, Decreased circulating antibody level, Complement deficiency, Leukopenia, Normo... ORPHA:289390
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... ORPHA:284
Wolf-Hirschhorn Syndrome
Osteoporosis ORPHA:280
Poems Syndrome
Thrombocytosis, Polycythemia, Increased circulating antibody level ORPHA:2905
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Decreased serum iron, Osteoporosis, Anemia ORPHA:438213
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Osteoporosis ORPHA:459070
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Increased circulating antibody level, Cryogl... ORPHA:781
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Abnorm... OMIM:188400
46,Xy Partial Gonadal Dysgenesis
Osteoporosis ORPHA:251510
Vascular Ehlers-Danlos Syndrome
Joint hyperflexibility, Hypokalemia, Osteoarthritis, Osteolysis ORPHA:286
Primrose Syndrome
Hip contracture, Joint hypermobility, Elevated circulating alpha-fetoprotein concentration, Flexi... OMIM:259050
Pseudoaminopterin Syndrome
Limited elbow movement, Sagittal craniosynostosis, Asplenia, Patchy reduction of bone mineral den... ORPHA:221120
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Rheumatoid factor positive, Rheumatoid arthritis OMIM:180300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Al Amyloidosis
Howell-Jolly bodies, Anemia, Increased circulating antibody level ORPHA:85443
Loeys-Dietz Syndrome 2
Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:610168
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Anemia, Leu... ORPHA:50918
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Hypercalcemia, Elevated circulating cre... ORPHA:904
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Osteoporosis, Reduced bone mineral density ORPHA:99413
Mosaic Monosomy X
Osteopenia, Osteoporosis, Reduced bone mineral density ORPHA:99228
Monosomy X
Osteopenia, Osteoporosis, Reduced bone mineral density ORPHA:99226
Turner Syndrome
Osteopenia, Osteoporosis, Reduced bone mineral density ORPHA:881
Alström Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h... ORPHA:64
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastr... OMIM:612132
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Singleton-Merten Syndrome 1
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand OMIM:182250
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis ORPHA:99889
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Hypercalcemia, Flexion contracture, Osteoporosis, Radioulnar synostosis OMIM:194050
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Scleromyxedema
Paraproteinemia ORPHA:167635
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Throm... OMIM:615846
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Thr... ORPHA:567
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Reduced thyroxin-binding globulin, Osteopo... ORPHA:79318
Postinfectious Vasculitis
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... ORPHA:48435
Trichinellosis
Increased circulating IgE level ORPHA:863
Cysticercosis
Increased circulating antibody level ORPHA:1560
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ciita

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ciita.

No publications found that use IMPC mice or data for Ciita.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ciitatm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ciitatm277723(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ciitatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ciitatm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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