Gene Summary

Name:
stimulator of interferon response cGAMP interactor 1
Synonyms:
ERIS,  MPYS,  2610307O08Rik,  Tmem173,  Sting

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Sting1tm1.1(KOMP)Mbp HOM Early adult 0.00
female infertility Sting1tm1.1(KOMP)Mbp HOM Early adult 0.00
abnormal heart morphology Sting1tm1.1(KOMP)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Sting1 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 Sting1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, I... OMIM:615934

The table below shows human diseases predicted to be associated to Sting1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ethanolaminosis
Cardiomegaly OMIM:227150
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R... OMIM:619220
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Immunodeficiency 95
Increased circulating IgG3 level, Respiratory distress, Recurrent viral upper respiratory tract i... OMIM:619773
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Tularemia
Localized skin lesion, Cervical lymphadenopathy, Pneumonia, Anemia, Lymphadenopathy, Mediastinal ... ORPHA:3392
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Reticular Dysgenesis
Chronic otitis media, Skin ulcer, Anemia, Skin rash, Decreased circulating antibody level, Dehydr... ORPHA:33355
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Skin ulcer, Recurrent lower respiratory tract infections, Meg... OMIM:620603
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Skin ulcer, B lymphocytopenia, Increased circulating IgE level, Recurrent b... ORPHA:217390
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyeliti... OMIM:209950
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Classic Mycosis Fungoides
Hypopigmented skin patches, Hepatomegaly, Skin ulcer, Lymphadenopathy, Skin rash, Abnormal lympho... ORPHA:2584
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Sterile abscess, Arthritis, ... OMIM:604416
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... OMIM:615615
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocytopenia, Recu... OMIM:150550
Chilblain Lupus
Skin ulcer, Increased circulating antibody level, Malar rash, Erythematous papule, Skin rash, Dis... ORPHA:90280
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Anemia, Inflammatory abnormality of the eye, Abnormality of the tonsils, A... ORPHA:229717
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Papule, Macule, Increa... ORPHA:37748
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Respiratory distress, Pleural effusion, Dyspnea, Abnormal lung mor... ORPHA:50251
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Abnormal immunogl... ORPHA:98813
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphedema, Pleural... ORPHA:545
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating IgG level, Petechiae, Nephrit... OMIM:603909
Necrobiosis Lipoidica
Skin ulcer, Indurated nodule, Atrophic scars, Papule, Abnormality of neutrophil physiology, Granu... ORPHA:542592
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Resp... ORPHA:36238
X-Linked Agammaglobulinemia
Chronic otitis media, Hypopigmented skin patches, Skin ulcer, Anemia, Hypocalcemia, Abnormality o... ORPHA:47
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat... OMIM:612387
Pneumocystosis
Chronic oral candidiasis, Exertional dyspnea, Abnormal neutrophil count, Increased circulating an... ORPHA:723
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Recu... OMIM:619644
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency 62
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c... OMIM:618459
Papa Syndrome
Skin ulcer, Lymphadenopathy, Increased circulating antibody level, Myositis, Arthritis, Crohn's d... ORPHA:69126
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Petechiae, Skin rash, Skin nodule, Macule, Incr... ORPHA:83313
Acute Interstitial Pneumonia
Peripheral edema, Reduced hematocrit, Atelectasis, Lymphadenopathy, Elevated circulating creatini... ORPHA:79126
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Aspergillosis
Localized skin lesion, Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, ... ORPHA:1163
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ... ORPHA:85414
Pyoderma Gangrenosum
Skin ulcer, Increased circulating antibody level, Myositis, Atrophic scars, Papule, Rheumatoid ar... ORPHA:48104
Focal Segmental Glomerulosclerosis 1
Anemia, Pleural effusion, Hyperlipidemia, Ascites, Edema, Hypoalbuminemia OMIM:603278
Meige Disease
Edema of the dorsum of hands, Skin ulcer, Predominantly lower limb lymphedema, Lymphedema, Pleura... ORPHA:90186
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Complete or nea... OMIM:620282
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... OMIM:618944
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Skin ulcer, Petechiae, Eczematoid der... OMIM:170100
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph... OMIM:608971
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Hepatomegaly, Chylopericardium, Respiratory distress, Pleural effusion, Ascites,... ORPHA:2414
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Skin ulcer, Thrombocytopen... ORPHA:848
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Avian Influenza
Pneumothorax, Myelitis, Elevated circulating C-reactive protein concentration, Respiratory distre... ORPHA:454836
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Dyspnea, Abnormal peritoneum morphology ORPHA:48686
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion, Facial erythema, Increas... ORPHA:284227
Fusariosis
Papule, Sinusitis, Granuloma, Skin detachment, Lymphopenia, Neutropenia, Hypersensitivity pneumon... ORPHA:228119
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Inc... ORPHA:457077
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Erythematous macule, Hep... OMIM:615559
Immunodeficiency 43
Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Hypoproteinemia, Decreased circu... OMIM:241600
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decr... OMIM:613500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Congenital Enterovirus Infection
Myocarditis, Hydrops fetalis, Anemia, Polyhydramnios, Respiratory distress, Abnormal macrophage m... ORPHA:292
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Lymphadenopathy, Respiratory distress, Pleural effusion, Dyspnea, Pericardial effus... ORPHA:411703
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Recurrent lower respiratory tract ... ORPHA:169154
Q Fever
Increased circulating antibody level, Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Myoca... ORPHA:781
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni... OMIM:614470
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Aplasia Cutis Congenita
Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, ... ORPHA:1114
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Dyspnea, Nodular pattern on pulmonary HRCT, Follicula... ORPHA:60026
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, ... OMIM:619707
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis OMIM:619986
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemoph... OMIM:613101
Polyarteritis Nodosa
Skin ulcer, Elevated circulating C-reactive protein concentration, Pleuritis, Pericarditis, Abnor... ORPHA:767
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Abnormal circulating IgG level, N... OMIM:226990
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... ORPHA:209004
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased circ... OMIM:619281
Acquired Purpura Fulminans
Prolonged prothrombin time, Elevated circulating C-reactive protein concentration, Erythematous m... ORPHA:49566
Brucellosis
Cutaneous cyst, Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, ... ORPHA:1304
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, Decreased circulating IgG level, T lymphocyt... OMIM:233650
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... OMIM:616100
Free Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Skin ulcer, Ascites, Splenomegaly, Recurrent respiratory infections ORPHA:834
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, T lymphocytopenia, Sinusitis, Increased circulating IgM level, Bronchiectasis, Reduced... OMIM:242860
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia OMIM:620443
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Hydrops fetalis, Cholelithiasis, Pleural... ORPHA:846
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis,... OMIM:604571
Dracunculiasis
Skin ulcer, Arthritis, Skin rash, Subcutaneous nodule, Recurrent cutaneous abscess formation ORPHA:231
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Panacinar emphysema, Hepatocellular carcinoma, Dyspnea, Splenomegaly, Bronchiectasis, ... OMIM:613490
Chronic Granulomatous Disease
Hypermelanotic macule, Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Skin ulcer, Infl... ORPHA:379
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis, Lymphopenia, Recurrent respiratory i... OMIM:300988
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Emphysema, Lymphadenopathy, Inflammatory abnormality of the eye, Arthritis, Skin ra... ORPHA:36412
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Neutrophilic infiltration... OMIM:618048
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertional dyspnea, Mediastinal lymphadenop... ORPHA:199241
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Erythema, Papule ORPHA:2337
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Increase... ORPHA:178320
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Lymphatic Malformation 7
Pulmonary edema, Anemia, Respiratory distress, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:617300
Interstitial Lung Disease 2
Cirrhosis, Exertional dyspnea, Increased circulating antibody level, Dyspnea, Elevated bronchoalv... OMIM:178500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating... OMIM:617099
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Incr... OMIM:602450
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Anemia, Acute colitis, Pleural empyema, Pleural effusion, Leukocytos... ORPHA:67
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... OMIM:617638
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Pleural effusion, Ascites, Increased circulati... OMIM:235200
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia,... OMIM:607616
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Respiratory distress, Hyperbilirub... ORPHA:673
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Kikuchi-Fujimoto Disease
Palpebral edema, Lymphocytosis, Skin rash, Papule, Skin nodule, Macule, Pustule, Leukopenia, Sple... ORPHA:50918
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Neutrophilic Dermatosis, Acute Febrile
Panniculitis, Anemia, Elevated circulating C-reactive protein concentration, Increased circulatin... OMIM:608068
Sweet Syndrome
Skin nodule, Pustule, Abnormality of tumor necrosis factor secretion, Increased circulating inter... ORPHA:3243
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... OMIM:615688
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema, Subcutaneous nodule ORPHA:31112
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir... OMIM:618495
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Panniculitis, Hemophagocytosis, Erythematous papule, Hepatosplenomegaly, Erythematous... ORPHA:86884
Pediatric Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Lymphadenopathy, Malar rash, Arthritis, Skin r... ORPHA:93552
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Skin ulcer, Atelectasis, Skin vesicle, Skin rash, Increased circulating IgE... ORPHA:2314
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... ORPHA:2688
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Cryoglobulinemic Vasculitis
Purpura, Hepatomegaly, Mediastinal lymphadenopathy, Skin ulcer, Circulating immune complexes, Pet... ORPHA:91138
Chilblain Lupus 1
Skin ulcer, Chilblains OMIM:610448
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Pyoderma gangrenosum, Acute myeloid leukemia, Recurrent aphthous stomatitis, Per... ORPHA:486
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Cirrhosis, Jaundice, Pleural effusion, Ascites, Hyperammonemia, Nonim... OMIM:617049
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, Recurrent respiratory infections, T l... OMIM:619510
Immunodeficiency 23
Erythema, Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulati... OMIM:615816
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Purpura, Lymphadenopathy, Pedal edema, Pleural effusion, Cryoglo... ORPHA:33226
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Gaucher Disease Type 2
Hepatomegaly, Respiratory distress, Splenomegaly, Abnormal pattern of respiration, Recurrent resp... ORPHA:77260
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Skin ras... OMIM:603552
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Hypochromic microcytic anem... OMIM:619632
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... OMIM:212050
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress ORPHA:141152
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Skin ulcer, Aplasia/Hypoplasia of the skin, Papule ORPHA:2028
Ollier Disease
Lymphangioma, Anemia, Subcutaneous nodule, Skin ulcer ORPHA:296
Coccidioidomycosis
Indurated nodule, Skin rash, Papule, Granuloma, Pericarditis, Erythema nodosum, Skin plaque, Morb... ORPHA:228123
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre... OMIM:619752
Hereditary Elliptocytosis
Jaundice, Hydrops fetalis, Skin ulcer, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poiki... ORPHA:288
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Ascites, Hyperalaninemia, Hyperammonemia, Pericardial effusion, Cardiomegaly, O... OMIM:614702
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cholelithiasis, Skin ulcer, A... ORPHA:231222
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Respiratory distress, Re... OMIM:617303
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Leukopenia, Splen... OMIM:620210
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Recurrent ... OMIM:620233
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Bronchitis, Optic neuritis, Biliary ci... ORPHA:289390
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... ORPHA:542323
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Respiratory distress, Thrombocytopenia, Pneumonia, P... ORPHA:238459
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, In... ORPHA:454831
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... OMIM:600802
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Emphysema,... OMIM:181000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Anasarca, Minimal change glomerulonephritis, Hyperlipidemia, Pleural effusion, A... ORPHA:567546
Secondary Intestinal Lymphangiectasia
Cirrhosis, Anasarca, Intestinal lymphedema, Decreased circulating IgG1 level, Decreased circulati... ORPHA:90363
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Skin ulcer, Acral ulceration ORPHA:139578
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Localized skin lesion, Purpura, Acral ulceration, Chronic lymphatic ... ORPHA:91139
C1Q Deficiency 2
Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Elevat... OMIM:620321
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Skin ulcer, ... ORPHA:231226
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Abnormality of the lymphat... ORPHA:69735
Takayasu Arteritis
Skin ulcer, Anemia, Inflammatory abnormality of the eye, Arthritis, Subcutaneous nodule, Abnormal... ORPHA:3287
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection... ORPHA:444463
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleuritis, Crohn's disease, ... OMIM:249100
Idiopathic Achalasia
Bronchitis, Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia ORPHA:930
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Recurre... OMIM:614069
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Skin rash, ... OMIM:618963
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Skin ulcer, Anemia, Pancytopenia, Hyperhomocystinemia, ... ORPHA:542643
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... OMIM:618282
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Prolidase Deficiency
Hepatomegaly, Skin ulcer, Aplasia/Hypoplasia of the skin, Dry skin, Papule, Thin skin, Splenomega... ORPHA:742
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Pleural effusion, Ascites, V... ORPHA:2905
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum, Recur... OMIM:615214
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc... ORPHA:448237
Immunodeficiency 11A
Decreased circulating antibody level, Agammaglobulinemia, Reduced antigen-specific T cell prolife... OMIM:615206
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, Decreased CD4:CD8 rat... OMIM:606367
Malignant Atrophic Papulosis
Pleural effusion, Constrictive pericarditis, Papule OMIM:602248
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Papule, Angioedema, Skin nodule, Splenomegaly, Cholangitis, Dyspnea, Neutrophili... ORPHA:3260
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Dyspnea, Portal hypertension, Abnormality of the hepatic vasculature, Bone marrow hypocellularity... ORPHA:210136
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Skin rash, Hypoproteinemia, Abnormal platele... ORPHA:167
Hydrops Fetalis
Polyhydramnios, Abnormality of the lymphatic system, Lymphedema, Pleural effusion, Ascites, Gener... ORPHA:1041
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Aplasia/Hypoplasia of the skin, Papule ORPHA:409
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportio... OMIM:615518
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Dry skin, Eczematoid dermatitis, Bone marrow hypoce... OMIM:618116
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Respiratory distress, Dehydration, Hyperammonemia, Thrombocyt... ORPHA:79312
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Dyspnea, Splenomegaly, Pallor ORPHA:75563
Common Variable Immunodeficiency
Chronic otitis media, Pneumonia, Purpura, Emphysema, Lymphadenopathy, Recurrent respiratory infec... ORPHA:1572
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Increased circulating creatine kinas... OMIM:232300
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Congenital Heart Block
Hydrops fetalis, Pleural effusion, Pericardial effusion, Peripheral edema, Pallor, Oligohydramnios ORPHA:60041
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... ORPHA:449280
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, I... OMIM:615934
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit... ORPHA:231214
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer, Pulmonary fibrosis ORPHA:220402
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... OMIM:615122
Acrogeria
Thin skin, Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin ORPHA:2500
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Atelectasis, Rectal abscess, Discoid lupus rash, Pl... OMIM:306400
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Papule, Hepatitis, Dermal atrophy ORPHA:525
Infection-Related Hemolytic Uremic Syndrome
Edema, Myocarditis, Increased circulating interleukin 6 concentration, Hypocalcemia, Pleural empy... ORPHA:544482
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu... ORPHA:766
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med... OMIM:612783
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Dry... ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy, Neoplasm of the lung ORPHA:424019
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... OMIM:619705
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Female infertility OMIM:617577
Aplasia Cutis-Myopia Syndrome
Skin ulcer, Aplasia cutis congenita ORPHA:1117
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Recurrent otitis media, Decreased circulating total IgM, Sclerosing chola... OMIM:243700
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Respiratory distress, Tongue edema, Angioedema, Pharyngeal edema, Facial edema, ... ORPHA:100057
Bacterial Toxic-Shock Syndrome
Scaling skin, Skin rash, Sinusitis, Edema, Elevated circulating creatinine concentration, Myocard... ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Anasarca, Polyhydramnios, Hypocalcemia, Decreased circulating antibody leve... OMIM:618183
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Leukocytosis, Sple... OMIM:618042
Infantile Myofibromatosis
Neoplasm of the pancreas, Skin ulcer, Neoplasm of the lung, Hypercalcemia, Subcutaneous nodule ORPHA:2591
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopu... OMIM:242700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, T lymphocytopenia, Sinusitis, Decrea... ORPHA:572
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Atelectasis, Respiratory distress, Bronchiectasis, Recurrent respiratory in... OMIM:619466
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Elevated circulating C-reactive protein concentration, Periodontitis, Rectal abscess,... OMIM:116920
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Panniculitis, Recurrent lower respiratory tract infections, Dec... OMIM:615758
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Cholestasis, Ascites, Splenomegaly, Polyclonal elevation of IgM, Jaun... ORPHA:171
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Purpura, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:743
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Skin rash, Increased circulating antibody level ORPHA:90000
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Leukocytosis, Pericarditis, Pedal e... ORPHA:188
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Acute infectious pneumonia, Elevated circulating carcinoembryonic antigen c... ORPHA:264675
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Panniculitis, B lymphocytopenia, Optic neuritis, Decreased circu... OMIM:301081
Lymphatic Malformation 6
Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effu... OMIM:616843
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Recurren... OMIM:619774
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... OMIM:102700
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Bronchi... OMIM:300755
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Pleural effusion, Ascites, Thrombocytopenia OMIM:617397
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Increased circulating IgE level, Dehydration, Papule, Pustule, Recurrent pneumoni... OMIM:616069
Dystrophic Epidermolysis Bullosa Pruriginosa
Milia, Increased circulating IgE level, Atrophic scars, Papule, Subcutaneous nodule, Skin plaque,... ORPHA:89843
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypertriglyceridemia, Skin rash, Splenomegaly, Abnormality of tumor ne... ORPHA:540
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Cryptogenic Organizing Pneumonia
Pneumothorax, Elevated circulating C-reactive protein concentration, Respiratory distress, Dyspne... ORPHA:1302
Nocardiosis
Pericarditis, Thyroiditis, Dyspnea, Conjunctivitis, Pneumonia, Scleritis, Cutaneous abscess, Oste... ORPHA:31204
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Arthritis, Skin rash, Xerostomia, Ascites, Infecti... ORPHA:779
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, L... ORPHA:3226
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Granulomatosis With Polyangiitis
Chronic otitis media, Skin ulcer, Pleuritis, Localized pulmonary hemorrhage, Episcleritis, Sinusi... OMIM:608710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Psoriasiform dermatitis, Neutropenia, Hypocalcemi... ORPHA:37042
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Respiratory distress, Stomat... OMIM:612852
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Anasarca, Decreased CD4:CD8 ratio, Oligo... OMIM:619573
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormal circulating cytokine concentration, Skin ulcer, Arthritis, Thrombocytopenia... ORPHA:464343
Familial Multiple Nevi Flammei
Hypermelanotic macule, Skin ulcer, Nevus flammeus, Papule, Edema ORPHA:624
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Mogs-Cdg
Hypoventilation, Pulmonary edema, Hepatomegaly, Polyhydramnios, Cardiomegaly, Respiratory distres... ORPHA:79330
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Hypouricemia, Neutrope... OMIM:613179
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:139406
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Skin rash, Bone marrow hypocellularity, Pericarditis, S... ORPHA:829
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas... OMIM:603554
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Recurrent otitis media, Bronchiolitis, Respiratory distress OMIM:615993
Juvenile Dermatomyositis
Calcinosis, Palpebral edema, Skin ulcer, Elevated circulating C-reactive protein concentration, M... ORPHA:93672
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Edema, Tachypnea OMIM:267450
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... OMIM:615010
Drug-Induced Lupus Erythematosus
Decreased circulating complement C3 concentration, Anemia, Elevated circulating C-reactive protei... ORPHA:231111
Primary Biliary Cholangitis
Gastrointestinal inflammation, Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hep... ORPHA:186
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Abnormal lymph node morphology, Lymphadeno... ORPHA:911
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Toxic Epidermal Necrolysis
Skin ulcer, Pancreatitis, Anemia, Respiratory distress, Macule, Thrombocytopenia, Abnormal pleura... ORPHA:537
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia... OMIM:610913
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Respiratory distress, Decreased circulating carnitine concentration, Mildly elevate... ORPHA:254864
Ovarian Fibroma
Mesenteric cyst, Pleural effusion, Ascites, Peritonitis ORPHA:314473
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Lassa Fever
Jaundice, Dyspnea, Increased circulating IgM level, Conjunctivitis, Facial edema ORPHA:99824
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Chronic rhinitis, Recurrent upper respiratory tract i... ORPHA:922
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent upper respiratory ... OMIM:608184
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Noonan Syndrome 8
Polyhydramnios, Pleural effusion, Eczematoid dermatitis, Left ventricular hypertrophy, Palmoplant... OMIM:615355
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Recurrent aspiration pneumonia, Jaundice, P... ORPHA:79124
Felty Syndrome
Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Neutrop... ORPHA:47612
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentra... OMIM:611762
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Respiratory distress, Hyperammonemia, Thrombocytopenia, Neutr... ORPHA:289916
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Buerger Disease
Skin ulcer ORPHA:36258
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Pulmonary edema, Anemia, Acute tubulointerstitial nephritis, Increased circulating ... ORPHA:340
Cryptococcosis
Cirrhosis, Pneumonia, Mediastinal lymphadenopathy, Prostatitis, Respiratory distress, Pleural eff... ORPHA:1546
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Sarcoidosis
Increased T cell count, Skin nodule, Leukopenia, Erythema nodosum, Skin plaque, Dyspnea, Portal h... ORPHA:797
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Pet... OMIM:301000
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Iga Pemphigus
Skin vesicle, Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophi... ORPHA:555905
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Increased circulating ... OMIM:617591
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Anasarca, Normochromic anemia, Pleural effusion, Thrombocytopenia, Edema, Hypoalbuminemia OMIM:254900
Acute Myelomonocytic Leukemia
Anemia, Dyspnea, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Hennekam Syndrome
Hydrops fetalis, Lymphadenopathy, Chylothorax, Hypocalcemia, Decreased circulating antibody level... ORPHA:2136
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Polyhydramnios, Respiratory distress, Ascite... ORPHA:367
Immunodeficiency 35
Recurrent respiratory infections, Increased circulating IgE level OMIM:611521
Lymphangioleiomyomatosis
Pneumothorax, Atelectasis, Emphysema, Lymphadenopathy, Recurrent respiratory infections, Chylotho... ORPHA:538
Gorham-Stout Disease
Edema, Lymphangioma, Pleural effusion, Osteomyelitis ORPHA:73
Microscopic Polyangiitis
Skin ulcer, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Peritoniti... ORPHA:727
Kimura Disease
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Brooke-Spiegler Syndrome
Skin nodule, Nodular changes affecting the eyelids, Skin ulcer, Skin-colored papule ORPHA:79493
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration... OMIM:616414
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Pallor, Hepatomegaly, Respiratory distress OMIM:613561
Granulomatosis With Polyangiitis
Chronic otitis media, Purpura, Prostatitis, Pancreatitis, Skin ulcer, Elevated circulating C-reac... ORPHA:900
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Respiratory distress ORPHA:238329
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Anemia, Petechiae, Splenomegaly, Recurrent upper respiratory tract infecti... OMIM:620296
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Respiratory distress, Paraseptal emphyse... OMIM:610921
Autoimmune Disease, Multisystem, Infantile-Onset, 1