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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Immunodeficiency 24
Severe varicella zoster infection, Decreased specific pneumococcal antibody level, Defective T ce... OMIM:615897
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Medial Condensing Osteitis Of The Clavicle
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... ORPHA:57196
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... OMIM:300853
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Hyaline Fibromatosis Syndrome
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia OMIM:228600
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Osteoporosis
Osteoporosis OMIM:166710
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
Immunodeficiency 12
Osteoporosis OMIM:615468
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia OMIM:264010
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis OMIM:256720
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... OMIM:614493
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Mu-Heavy Chain Disease
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Recurrent opportunistic infections, Lack of T cell function, R... ORPHA:277
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre... OMIM:618261
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Lymp... OMIM:618982
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increa... OMIM:618495
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Mahvash Disease
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... OMIM:619290
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Meningitis, In... OMIM:212050
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis ORPHA:408
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis ORPHA:2028
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Osteopenia OMIM:619256
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... OMIM:615607
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infections, Splenom... OMIM:614470
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Dermatoosteolysis, Kirghizian Type
Joint contracture of the hand, Flexion contracture, Osteolysis OMIM:221810
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... OMIM:608184
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Hepatitis, Systemic lupus erythematosus, Splenomegaly, Auto... ORPHA:444463
Immunodeficiency 20
BCGitis, Severe varicella zoster infection, Recurrent viral upper respiratory tract infections, R... OMIM:615707
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:411593
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint laxity OMIM:616033
Hereditary Chronic Pancreatitis
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice ORPHA:676
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... OMIM:615559
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia ORPHA:53697
Gorham-Stout Disease
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... ORPHA:73
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence of anti-ne... ORPHA:572
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... OMIM:209950
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity, Diabetes mellitus, Insulin resistance OMIM:612227
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... OMIM:618986
Immunodeficiency 48
Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly OMIM:269840
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Chylous Ascites
Pancreatitis ORPHA:1160
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... OMIM:616098
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Lymphoproliferative Syndrome 2
Sepsis, Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level,... OMIM:615122
Ollier Disease
Joint stiffness, Anemia, Osteolysis ORPHA:296
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Osteopenia OMIM:612287
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Rheumatoid factor positive, Splenomegaly, Perianal abscess, Hepat... OMIM:618935
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Osteoporosis, Reduced bone mineral density ORPHA:2410
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Thrombocytopenia, Osteoporosis, Joint laxity OMIM:614727
Tenosynovial Giant Cell Tumor
Joint stiffness, Localized osteoporosis, Limitation of joint mobility, Osteolysis ORPHA:66627
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Hypophosphatemia, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecular... ORPHA:93160
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Osteosarcoma
Osteolysis, Pathologic fracture ORPHA:668
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... OMIM:308230
Thymic Aplasia
Sepsis, Lymphadenopathy, Recurrent infections, Recurrent candida infections, Oligoclonal T cell e... ORPHA:83471
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Osteoporosis, Joint laxity OMIM:248010
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Ramon Syndrome
Osteolysis ORPHA:3019
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Osteoporosis, Elev... ORPHA:79230
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Recurrent infections OMIM:618048
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neutroph... OMIM:612852
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, Carpal osteolysis, ... ORPHA:2774
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Recurre... OMIM:209920
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Insulin resistance OMIM:606721
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Juvenile Paget Disease
Osteoporosis, Hyperuricemia, Coarse metaphyseal trabecularization, Cranial hyperostosis, Recurren... ORPHA:2801
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... ORPHA:217390
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hyperglycemia OMIM:608600
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... OMIM:178610
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Hyperostosis, Anemia, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Elevated circulating... ORPHA:324964
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia, Atopic dermat... OMIM:618806
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Adrenal insufficiency, Hypoglycemia, Pancreatitis OMIM:619386
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... OMIM:613179
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Pathologic fracture,... ORPHA:98850
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Pancreatitis, Hepatic steatosis OMIM:618805
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Osteopenia OMIM:612286
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Generalized osteoporosis OMIM:613849
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis OMIM:166230
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... ORPHA:331235
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis OMIM:243300
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Immunodeficiency 31C
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Lymphopenia, Hypothyroidism, Diabetes me... OMIM:614162
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Decrea... OMIM:616100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, Pancreatitis, N... ORPHA:69663
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... OMIM:242700
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis ORPHA:85193
Shashi-Pena Syndrome
Osteoporosis OMIM:617190
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... ORPHA:65682
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Recurrent oti... OMIM:601495
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Hyperzincemia With Functional Zinc Depletion
Osteoporosis, Increased serum zinc OMIM:601979
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Indolent Systemic Mastocytosis
Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast cel... ORPHA:98848
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Lymphadenopathy, Hepatosplenomegaly, Recur... OMIM:619126
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Recurrent uppe... ORPHA:70593
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Increased susceptibility to fractures, Pathol... ORPHA:52430
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis OMIM:309610
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Lymphoproliferative Syndrome 1
Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating antibody leve... OMIM:613011
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Splenomegaly ORPHA:79301
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis ORPHA:391
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Leukopenia, Pancreatitis, Thrombocytopenia OMIM:251000
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... OMIM:616576
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis involving bones of the lower limbs, Increased susceptibility to fractures, Osteolysis ... ORPHA:371428
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Knee flexion con... OMIM:214150
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Increased susceptibility to fractures, Osteoporosis, ... OMIM:259450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Recurrent bacterial infections, Severe varicella zoster infe... OMIM:606367
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutro... ORPHA:231154
Lichtenstein Syndrome
Increased susceptibility to fractures, Osteoporosis, Neutropenia OMIM:246550
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteoarthritis, Osteolysis ORPHA:1657
Felty Syndrome
Neutropenia, Synovitis, Abnormal lymphocyte morphology, Anemia, Arthritis, Splenomegaly, Limitati... ORPHA:47612
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Keratoconjunctivitis sicca, Hepatomegaly, Xerostomia, Pancreatitis, Angular cheilitis, Sclerosing... OMIM:260480
Propionic Acidemia
Hepatomegaly, Eczema, Neutropenia, Hypoglycemia, Anemia, Pancreatitis, Pancytopenia, Thrombocytop... OMIM:606054
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia ORPHA:83313
Gaucher Disease Type 1
Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Hypersplenism, Increased bone ... ORPHA:77259
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
Reticular Dysgenesis
Sepsis, Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteoporosis, Osteopenia OMIM:126550
Frank-Ter Haar Syndrome
Joint stiffness, Camptodactyly of finger, Osteolysis ORPHA:137834
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Hyperlipidemia, Osteopenia ORPHA:369
Refractory Celiac Disease
Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Hypo... ORPHA:398063
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections, Lymphopenia, Splenomegaly OMIM:605309
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Increased susceptibility to fractures, Osteolysis OMIM:602080
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity, Skin rash OMIM:618795
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... OMIM:616871
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... OMIM:616005
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Symmetric polyarthritis, Reduced bone mineral density, Osteopenia, Limitation of joint... ORPHA:85435
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bro... OMIM:619164
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Systemic lupus erythematosus, Arthritis, Ma... OMIM:152700
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... ORPHA:90280
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Recurrent infections, Decreased circulat... OMIM:617780
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis, Bone marrow hypocell... ORPHA:549
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Perrault Syndrome 1
Osteoporosis OMIM:233400
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Osteolysis involving tarsal bones, Osteopenia, Carp... OMIM:166300
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Glycerol Kinase Deficiency
Osteoporosis, Hypertriglyceridemia, Pathologic fracture OMIM:307030
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... OMIM:608189
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Pancrea... ORPHA:79083
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Osteoporosis, Osteopenia ORPHA:319195
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Primary Lipodystrophy
Type II diabetes mellitus, Insulin resistance, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic ste... ORPHA:90970
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Recurrent viral infections, Absence of lymph node germinal center, Anem... ORPHA:79124
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Menkes Disease
Osteoporosis, Joint laxity OMIM:309400
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis ORPHA:188
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia, Arthriti... ORPHA:31205
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Elevated circulating creatine kinase concentration, Reduced bone mineral density ORPHA:262
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... OMIM:615518
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitus ORPHA:2348
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density OMIM:614856
Sialidosis Type 2
Osteoporosis, Flexion contracture, Splenomegaly ORPHA:87876
Acquired Partial Lipodystrophy
Hepatic steatosis, Autoimmunity, Lymphocytosis, Insulin resistance ORPHA:79087
Immunodeficiency 22
Autoimmunity, Panniculitis, Decreased proportion of CD4-positive helper T cells OMIM:615758
Bruck Syndrome
Joint stiffness, Recurrent fractures, Osteoporosis, Arthrogryposis multiplex congenita ORPHA:2771
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Osteopenia, Infantile hypercalcemia, Generalized osteoporosis ORPHA:99879
Microscopic Polyangiitis
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increa... ORPHA:727
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections, Splenomegaly OMIM:201100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Recurrent fractures... OMIM:600081
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pancreatitis, Pneumonia ORPHA:70578
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia, Recurrent infections OMIM:615387
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone mineral density, Recurr... OMIM:239000
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Osteoarthritis ORPHA:77296
Warburg Micro Syndrome 1
Joint hypermobility, Osteoporosis OMIM:600118
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Osteoporosis, Joint laxity, Osteopenia ORPHA:2788
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia, Reduced bone mineral density ORPHA:172
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... OMIM:301000
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Autoimmunity, Neutropenia, Minimal change glomerulonep... ORPHA:1830
Mycetoma
Bone cyst, Osteoporosis, Abnormal bone structure, Osteomyelitis, Painless fractures due to injury... ORPHA:2583
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Recurrent fractures... OMIM:300554
Acquired Generalized Lipodystrophy
Hepatomegaly, Autoimmunity, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis... ORPHA:79086
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Acute pancreatitis, Lymphopenia, Maculopapular exanthema, Thrombocytopenia ORPHA:319218
Immunodeficiency 23
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... OMIM:615816
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... OMIM:102700
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Osteoporosis OMIM:266510
Alpha-Heavy Chain Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysi... ORPHA:90154
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hyperparathyroidism OMIM:145001
Hyperparathyroidism 4
Hypercalcemia, Osteopenia OMIM:617343
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal ... ORPHA:90153
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Erythroid hyp... ORPHA:231222
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Hypophosphatemic Bone Disease
Osteomalacia, Hypophosphatemia, Rickets OMIM:146350
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Hall-Riggs Mental Retardation Syndrome
Osteoporosis OMIM:234250
Myeloma, Multiple
Paraproteinemia OMIM:254500
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte mo... ORPHA:229717
Fibrous Dysplasia Of Bone
Hypercalcemia, Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Hypophosphatemia, Abnor... ORPHA:249
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Osteoporosis, Synostosis of carpal bones, Limitation of joint mobility ORPHA:93351
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... OMIM:614700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca... OMIM:150550
Cranioectodermal Dysplasia
Craniosynostosis, Osteoporosis, Joint hyperflexibility ORPHA:1515
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Osteoarthr... OMIM:208230
Cach Syndrome
Hepatosplenomegaly, Pancreatitis, Optic neuritis ORPHA:135
Pachydermoperiostosis
Osteoporosis, Anemia, Abnormal cortical bone morphology, Arthritis, Osteomyelitis, Splenomegaly, ... ORPHA:2796
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia OMIM:615923
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Osteopenia OMIM:619489
Microsporidiosis
Brain abscess, Myocarditis, Sinusitis, Cholangitis, Hepatitis, Infectious encephalitis, Lymphaden... ORPHA:2552
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia marcescens infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia marcescens infec... OMIM:233710
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type II diabetes mellitus, Pancreatitis, Iridocyclitis, Type I diabetes mellitus, Hypothyroidism ORPHA:412057
Amish Lethal Microcephaly
Decreased skull ossification, Osteoporosis, Limitation of joint mobility ORPHA:99742
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Meningitis, In... ORPHA:3392
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Glycogen Storage Disease Ib
Hepatomegaly, Neutropenia, Hypoglycemia, Hepatocellular carcinoma, Gout, Pancreatitis OMIM:232220
Hemochromatosis, Type 1
Increased serum iron, Increased circulating ferritin concentration, Osteoporosis, Splenomegaly OMIM:235200
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Recurrent fractures... OMIM:241530
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density ORPHA:2501
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarc... ORPHA:480520
Sapho Syndrome
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... ORPHA:793
Mast Cell Sarcoma
Lymphadenopathy, Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Osteoporosis, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Mixed Connective Tissue Disease
Leukopenia, Arthritis, Splenomegaly, Joint stiffness, Hemolytic anemia, Osteolysis ORPHA:809
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Cutaneou... OMIM:242840
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia marcescens infec... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia marcescens infec... OMIM:233690
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoarthritis, Osteoporosis OMIM:618000
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Osteoporosis, Flexion contracture of toe, Camptodactyly of finger ORPHA:3409
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acro... OMIM:614008
Osteogenesis Imperfecta, Type Xxi
Joint hypermobility, Recurrent fractures, Osteoporosis OMIM:619131
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Thrombocytopenia, H... OMIM:263700
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Pyle Disease
Limited elbow extension, Reduced bone mineral density OMIM:265900
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Hypertriglyceridemia, Flexion contracture OMIM:615381
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Joint laxity OMIM:617952
Mucolipidosis Type Iii
Joint stiffness, Craniofacial hyperostosis, Reduced bone mineral density ORPHA:577
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Hepatic steatosis, Perianal abscess, Hepatosplenomegaly, Acute pancreatit... ORPHA:444490
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... OMIM:615952
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypomethioninemia, Macrocytic anemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Hypophosphatemia, Hypophosphatemic rickets, Rickets OMIM:193100
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Os... ORPHA:79277
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenom... ORPHA:565612
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Hypocalcemic seizures, Rickets, Hypophosphatemia, Delayed epiphyseal ossificati... OMIM:264700
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap... ORPHA:91139
Leishmaniasis
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circ... ORPHA:507
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
H Syndrome
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Camptodactyly, Recurrent fractures, ... ORPHA:168569
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Increased susceptibility to fracture... ORPHA:98849
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections, Anemia, Splenomegaly ORPHA:30
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Hypocalcemic seizures, Rickets, Hypophosphatemia, Delayed epiphyseal ossificati... OMIM:277440
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Primary Sclerosing Cholangitis
Hepatomegaly, Autoimmunity, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, He... ORPHA:171
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Werner Syndrome
Osteoporosis OMIM:277700
Niemann-Pick Disease, Type A
Osteoporosis, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Sea-blue histiocytosis OMIM:257200
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Increased susceptibility to fractures, Osteopenia OMIM:615066
Papillon-Lefèvre Syndrome
Liver abscess, Recurrent cutaneous abscess formation, Osteolysis ORPHA:678
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia OMIM:610489
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Leukocytosis, Sepsis, Anemia, Abnormality of the lymph nodes, Spl... OMIM:612840
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine... OMIM:231095
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Hypocalcemic seizures, Rickets, Increased susceptibility to fractures, Hypophos... ORPHA:289157
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Mastocytosis
Hypercalcemia, Acute leukemia, Chronic leukemia, Osteoporosis, Mastocytosis, Splenomegaly, Recurr... ORPHA:98292
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Osteoporosis, Reduced bone mineral density, H... ORPHA:261476
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Osteoporosis, Hyperphosphatemia OMIM:612462
Dent Disease 1
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Osteomalacia, Recur... OMIM:300009
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the... ORPHA:464321
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Spondylo-Ocular Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:85194
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive helper T cells... ORPHA:66628
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Increased circulating... OMIM:617303
Classic Galactosemia
Osteoporosis, Abnormal erythrocyte enzyme level, Reduced bone mineral density ORPHA:79239
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Arthritis, Osteopenia, Limitation of joint mobility, Osteolytic defects of the phal... OMIM:259100
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Splenomegaly, Increased bone mineral density, Panc... ORPHA:77261
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Infectious... ORPHA:540
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Recurrent urinary trac... ORPHA:169105
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Anemia... ORPHA:20
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Rickets OMIM:607748
Kaposiform Lymphangiomatosis
Fractures of the long bones, Anemia, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly... ORPHA:464329
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Osteoporosis, Limitation of joint mobility, Hypermethioninemia, Generalized ... OMIM:236200
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Lymphadenopathy, Recurrent fungal infections, ... OMIM:603554
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Inflammation of the large intestine, Hypoglycemia, Hepatocellu... ORPHA:79259
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody level... OMIM:617591
Nasu-Hakola Disease
Acute leukemia, Bone cyst, Limitation of joint mobility, Reduced bone mineral density ORPHA:2770
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Osteoporosis, Reduced bone mineral density ORPHA:2235
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive helper T cells... ORPHA:179494
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Rheumatoid arth... ORPHA:48377
Estrogen Resistance Syndrome
Osteoporosis, Delayed epiphyseal ossification, Osteopenia ORPHA:785
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Camptodactyly, Recurrent fractur... OMIM:231070
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Osteoporosis, Splenomegaly, Osteolysis, Osteopenia, Hemolytic anemia, Abno... ORPHA:95159
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Chronic oral candidiasis, Lymphad... OMIM:260920
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Pericarditis, Tubulointerstitial nephritis, Urinary bladder... ORPHA:449395
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis, Eosinophilia ORPHA:449427
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Recurrent fractures, Anemia, Osteopenia OMIM:618107
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Acute colitis, Panc... ORPHA:90038
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Osteoporosis, Arthritis, Elevated transferrin saturation, Spleno... ORPHA:465508
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... OMIM:618213
Infantile Systemic Hyalinosis
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Recurrent fractures, Camptodacty... ORPHA:2176
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia OMIM:612562
Beta-Thalassemia
Abnormality of iron homeostasis, Abnormal hemoglobin, Anemia, Splenomegaly, Reduced bone mineral ... ORPHA:848
Gaucher Disease
Elevated circulating C-reactive protein concentration, Pancytopenia, Anemia, Arthrogryposis multi... ORPHA:355
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Dermatosparaxis Ehlers-Danlos Syndrome