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Gene: Sting1 MGI:1919762

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Sting1tm1b(KOMP)Mbp HOM Early adult 0.00
abnormal heart morphology Sting1tm1b(KOMP)Mbp HOM Early adult 0.00
enlarged heart Sting1tm1b(KOMP)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Adult LacZ

LacZ Images Section

11 Images

View 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
Increased circulating IgA level, Recurrent respiratory infections, Malar rash, Erythema, Leukopen... 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
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 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Recurren... OMIM:615513
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Ethanolaminosis
Cardiomegaly OMIM:227150
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Respiratory distress, Recurrent viral pneumonia, R... OMIM:619773
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Cervical lymphadenopathy, Autoimmune thrombo... OMIM:618534
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent bacterial sk... ORPHA:217390
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 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
Tularemia
Leukocytosis, Cervical lymphadenopathy, Increased circulating antibody level, Skin rash, Cough, A... ORPHA:3392
Leishmaniasis
Abnormal macrophage morphology, Skin plaque, Leukopenia, Increased circulating antibody level, An... ORPHA:507
Immunodeficiency 27A
Hepatosplenomegaly, Abnormal bronchus physiology, Leukocytosis, Anemia, Histiocytosis, Increased ... OMIM:209950
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Chronic pulmonary obstruction, Autoimmune hemolytic anemia, P... OMIM:616576
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Decreased circulating I... OMIM:605258
Reticular Dysgenesis
Chronic otitis media, Recurrent respiratory infections, Aplasia/Hypoplasia of the thymus, Dehydra... ORPHA:33355
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Lymphoproliferative Syndrome 1
Leukopenia, Stomatitis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatom... OMIM:613011
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... ORPHA:90280
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:606843
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased CD4:CD8 ratio, Com... OMIM:607271
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hypoalbuminemia, Hemophagocytosis, Aplastic anemia, Fulminant h... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Increased circulating antibody level, Respiratory insufficienc... ORPHA:723
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Classic Mycosis Fungoides
Erythema, Skin plaque, Edema, Skin rash, Hypopigmented skin patches, Dry skin, Hepatomegaly, Abno... ORPHA:2584
Immunodeficiency 48
Eczematoid dermatitis, Absence of CD8-positive T cells, Recurrent respiratory infections, Hepatom... OMIM:269840
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Cystic acne, Sterile abscess, Sterile arthritis, Colitis, Arthritis, Microcyt... OMIM:604416
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Abnormal spermatogenesis, Oocyte arrest at metaphase I ORPHA:488191
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Dyspnea, Atopic dermatitis, Leukocytosis, Atelectasis, Restrictive ventilatory... ORPHA:2902
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Recurrent aphthous stomatitis, Abscess, Neutropenia, Chronic oral ... OMIM:150550
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... ORPHA:50251
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Leukocytosis, Leukopenia, Cough, Hypoxemia, Nonproductive cough, Neutrophilia... ORPHA:36238
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Skin rash, Anemia, Abnor... ORPHA:229717
Acute Interstitial Pneumonia
Atelectasis, Hypoxemia, Respiratory failure, Subpleural honeycombing, Dyspnea, Decreased DLCO, Pe... ORPHA:79126
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... OMIM:613953
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Schnitzler Syndrome
Leukocytosis, Anemia, Skin rash, Hepatomegaly, Arthritis, Increased circulating IgM level, Macule... ORPHA:37748
Follicular Lymphoma
Abnormality of the peritoneum, Skin nodule, Lymphadenopathy, Lymphedema, Mediastinal lymphadenopa... ORPHA:545
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Recurrent lower respirator... OMIM:616005
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Hep... OMIM:612387
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Aspergillosis
Pleuritis, Chronic pulmonary obstruction, Dyspnea, Sinusitis, Abnormality on pulmonary function t... ORPHA:1163
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Bronchiolitis obliterans, Increased circulating IgE level, Increased ci... OMIM:617241
Boutonneuse Fever
Maculopapular exanthema, Leukopenia, Cervical lymphadenopathy, Skin rash, Skin nodule, Macule, In... ORPHA:83313
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating total IgM, Edema, Anemia, Decreased proportion of CD3-posi... ORPHA:90362
Necrobiosis Lipoidica
Erythema, Inflammatory abnormality of the skin, Skin plaque, Granuloma, Skin nodule, Abnormality ... ORPHA:542592
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Hypoxemia, Hepatomegaly, Recurrent lower respiratory tract i... OMIM:308230
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Anemia, Hypopigmented ski... ORPHA:47
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:601859
Beta-Thalassemia
Anemia, Respiratory insufficiency, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatiti... ORPHA:848
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... OMIM:247800
Immunodeficiency 102
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... OMIM:301082
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Hepatomegaly, Lymphadenopathy, Elevated... ORPHA:85414
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Hydrops fetalis, Cough, Hepatomeg... ORPHA:2414
Avian Influenza
Productive cough, Hypoxemia, Elevated circulating creatine kinase concentration, Respiratory fail... ORPHA:454836
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased proportion of HLA DR+ T cells, Hepatomegaly, Increased circulating IgM level, Decreased... OMIM:603909
Meige Disease
Edema of the dorsum of hands, Skin dimple, Skin erosion, Recurrent bacterial skin infections, Per... ORPHA:90186
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Chronic lu... OMIM:617514
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Maculopapular exanthema, Pleural effusion, Hemophagocytosis, Edema, Monocytos... OMIM:619644
Focal Segmental Glomerulosclerosis 1
Edema, Anemia, Hyperlipidemia, Ascites, Pleural effusion, Hypoalbuminemia OMIM:603278
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Prolidase Deficiency
Increased circulating antibody level, Anemia, Hepatomegaly, Prolonged neonatal jaundice, Chronic ... OMIM:170100
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Atopic de... OMIM:618944
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Lymphadenopa... ORPHA:411703
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Recurrent otitis media, Lymphadenopathy, Pneumonia, Eczema, Otit... OMIM:608971
Papa Syndrome
Increased inflammatory response, Increased circulating antibody level, Pustule, Arthritis, Acne, ... ORPHA:69126
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Decreased CD4:CD8 ratio, Decreased specific anti-polysaccharide... OMIM:300853
Tempi Syndrome
Facial erythema, Polycythemia, Hypoxemia, Transudative pleural effusion, Increased circulating Ig... ORPHA:284227
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Increased circulating antibody level, Pust... ORPHA:48104
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Cough, Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy, Nodular patte... ORPHA:60026
Fusariosis
Peritonitis, Maculopapular exanthema, Productive cough, Granuloma, Skin detachment, Abnormality o... ORPHA:228119
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Herpes simplex encephalitis, Increased circu... OMIM:618982
Immunodeficiency 43
Recurrent respiratory infections, Hypoproteinemia, Lung abscess, Decreased circulating beta-2-mic... OMIM:241600
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... ORPHA:443811
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Abnormal T cell morphology, Decreased circula... OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... OMIM:613500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Abscess, G... OMIM:618935
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, Cervical lymphadenopathy, Decr... OMIM:618987
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Abnormality of the peritoneum, Pericardial effusion ORPHA:48686
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Cirr... OMIM:613490
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent lower respiratory tract infections, Hepatomegaly, Reduced natural killer cell activity,... OMIM:615559
Congenital Enterovirus Infection
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hyperammonemia, Skin rash,... ORPHA:292
Q Fever
Myocarditis, Maculopapular exanthema, Granuloma, Hepatomegaly, Hepatosplenomegaly, Endocarditis, ... ORPHA:781
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... OMIM:612692
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Partial absence of specific antibody response to Haemophilus influ... OMIM:618986
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Decrease... OMIM:613493
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Absent tonsils, Abnormality of humoral immunity, Increased ... ORPHA:277
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... OMIM:619707
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Hypertriglyceridemia, Abnormal natural kil... OMIM:613101
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Anemia, Hepatomegaly, Abnormal circul... OMIM:226990
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody... OMIM:178500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Increased circulating IgA level, Psoriasiform lesion, Increased circulating a... ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Skin rash, Restrictive ventilatory defect, Cough, Uveitis, Angioedema, Hepatomegaly, Art... ORPHA:36412
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bron... OMIM:604571
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis OMIM:619986
Chronic Granulomatous Disease
Recurrent respiratory infections, Liver abscess, Chronic pulmonary obstruction, Hypermelanotic ma... ORPHA:379
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, ... ORPHA:178320
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Colitis, Hepatosplenomegaly, Lym... OMIM:619802
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Inflammation of the large intestine, Colitis, Decr... OMIM:619281
Brucellosis
Myocarditis, Leukocytosis, Granuloma, Hepatomegaly, Increased circulating IgM level, Erythematous... ORPHA:1304
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Ulcerative c... OMIM:617638
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Decreased lymphocyte apoptosis, Hemolytic anemia, Increased cir... OMIM:614470
Polyarteritis Nodosa
Pleuritis, Erythema, Skin ulcer, Elevated circulating C-reactive protein concentration, Abnormal ... ORPHA:767
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurr... OMIM:616100
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Pulmonary bulla, Increased circulating IgE level, Reduced circul... OMIM:619632
X-Linked Lymphoproliferative Disease
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... ORPHA:2442
Malaria
Anemia, Respiratory distress, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reacti... ORPHA:673
Acquired Purpura Fulminans
Prolonged prothrombin time, Skin rash, Macule, Pyoderma gangrenosum, Thrombocytopenia, Elevated c... ORPHA:49566
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Capill... ORPHA:199241
Aplasia Cutis Congenita
Congenital localized absence of skin, Aplasia cutis congenita over the scalp vertex, Prolonged bl... ORPHA:1114
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Decreased circulating IgA level, Reduced natural killer cell count, Increased... OMIM:242860
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Absent tonsils, Decreased circulating IgA level, Pulmonary fibro... OMIM:611926
Idiopathic Achalasia
Bronchitis, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia, Wheezing ORPHA:930
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Recurrent sinopulmonary infections, Decreased circulating... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, B lymphocytopenia, Pneumonia, Panhypogammaglobulinemia, Conjunctivi... OMIM:601457
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis, Subcutaneous nodule ORPHA:231
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Hydrops fetalis, Hepatomegaly, Splenomegaly, Skin ulcer, Ascites ORPHA:834
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Recurrent otitis media, ... OMIM:240500
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased circulating IgA level, Skin rash, Increased CD4... OMIM:618048
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Increased circulating IgE level, Hepatomegaly, Lymph... OMIM:602450
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Psoriasiform les... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Chronic oral candidiasis, Decreased p... ORPHA:276
Waldenström Macroglobulinemia
Cryoglobulinemia, Normocytic anemia, Respiratory insufficiency, Abnormality of neutrophils, Leuke... ORPHA:33226
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Hemochromatosis, Type 1
Hepatocellular carcinoma, Hepatomegaly, Cirrhosis, Increased serum iron, Increased circulating fe... OMIM:235200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pulmonary arterial hypertension, Dyspnea, Leukocytosis, Atelectasis, Cough, Cholestasis, Recurren... OMIM:620233
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Dyspnea, Leukocytosis, Liver abscess, Anemia, Acute colitis, Cough, Pleural empyema... ORPHA:67
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Jaundice, Nonimmune hydrops fetalis, Hyperammonemia, Elevated circula... OMIM:617049
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Erythema, Increased circulating interleukin 6 concentration, Anemia, Cystic acne, P... OMIM:608068
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Joint swelling, Skin rash, Increased circulating I... OMIM:617099
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Anemia, Facial edema, Respirator... OMIM:617300
Cryptogenic Organizing Pneumonia
Dyspnea, Leukocytosis, Restrictive ventilatory defect, Cough, Hypoxemia, Neutrophilia, Respirator... ORPHA:1302
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Increased LDL cholesterol concentration, Dyspnea, Decreased DLC... OMIM:607616
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Partial absence... OMIM:618108
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Papule, Skin ulcer ORPHA:2337
Kikuchi-Fujimoto Disease
Myocarditis, Skin plaque, Skin erosion, Hepatomegaly, Macule, Erythematous macule, Erythema, Leuk... ORPHA:50918
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Inflammation of the large intestine, Hemophagocytosis, Aplastic... OMIM:300635
Autosomal Dominant Hyper-Ige Syndrome
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Skin rash, Cough, Increased ... ORPHA:2314
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Hemolytic anemia, Splenomegaly, Abnormal leukocyte morphology, Pallor ORPHA:228312
Sweet Syndrome
Leukocytosis, Erythematous papule, Skin vesicle, Neutrophilia, Acute myeloid leukemia, Abnormalit... ORPHA:3243
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Chronic (near) absent circulating IgG4, Reduced isohemagglutini... OMIM:614699
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased circulating total IgM, Skin rash, Decreased ... ORPHA:331206
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Hepatomegaly, Urticarial plaque, Erythema nodosum, Skin ulcer, Hepatosplenomegaly, ... OMIM:615688
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Hereditary Spherocytosis
Jaundice, Maculopapular exanthema, Gout, Increased mean corpuscular hemoglobin concentration, Ret... ORPHA:822
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Immunodeficiency 50
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia, Eczema, Neut... OMIM:300988
Scedosporiosis
Bronchitis, Pleuritis, Abnormal respiratory system physiology, Endocarditis, Arthralgia/arthritis... ORPHA:449280
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Pulmonary arterial hypertension, Jaundice, Leukocyt... ORPHA:231222
Immunodeficiency 23
Recurrent respiratory infections, Erythema, Hemolytic anemia, Abscess, Increased circulating IgE ... OMIM:615816
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Abnormality of the hepatic vasculature, Dyspnea, Restrictive ventilatory defe... ORPHA:210136
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphocyt... OMIM:618495
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Aplastic anemia, Recurrent aphthous stomatitis, Leukemia, Acu... ORPHA:486
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Pediatric Systemic Lupus Erythematosus
Dyspnea, Malar rash, Pleural effusion, Leukopenia, Skin rash, Microangiopathic hemolytic anemia, ... ORPHA:93552
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:542323
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Neutropenia,... OMIM:619752
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis, Erythematous papule, Panniculitis, Skin ulcer, Erythematous... ORPHA:86884
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Dyspnea, Enlarged kidney, Abnormal spleen morphology, Cough, Anemia, Abnormal... ORPHA:464329
Gaucher Disease Type 2
Recurrent respiratory infections, Cough, Hepatomegaly, Respiratory distress, Abnormal pattern of ... ORPHA:77260
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer, Subcutaneous nodule ORPHA:31112
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia ORPHA:141152
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Hepatomegaly, Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody... OMIM:181000
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgA, Decreased circulating ... OMIM:618969
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Increased circulating antibody level, Enlarged ... OMIM:615285
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Elevated carcinoembryonic antigen le... ORPHA:264675
Cryoglobulinemic Vasculitis
Circulating immune complexes, Cryoglobulinemia, Abnormality of the liver, Keratoconjunctivitis si... ORPHA:91138
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnor... ORPHA:2688
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Skin rash, Anemia, Edema, Hepatomegaly, Hypertriglyceridemia, Thrombo... OMIM:603552
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... OMIM:212050
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Atopic dermatitis, Eczema, I... OMIM:243700
Combined Oxidative Phosphorylation Deficiency 10
Hyperammonemia, Hyperalaninemia, Pericardial effusion, Oligohydramnios, Pleural effusion, Cardiom... OMIM:614702
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Abnormal macrophage morphology, Abnormal platelet function, Abn... ORPHA:2585
Coccidioidomycosis
Peritonitis, Skin plaque, Granuloma, Verrucous papule, Increased circulating IgM level, Indurated... ORPHA:228123
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal... OMIM:600802
Immunodeficiency 76
Colitis, Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Lymphadenopathy, Recurrent bronchio... OMIM:619164
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Thin skin, Purpura, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:743
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Recurrent respiratory infections, Decreased circulating t... OMIM:619510
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Chronic hepatitis, Keratoconjunctivitis sicca, Usual... ORPHA:289390
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer ORPHA:2028
Takayasu Arteritis
Pulmonary arterial hypertension, Anemia, Skin ulcer, Arthritis, Inflammatory abnormality of the e... ORPHA:3287
X-Linked Sideroblastic Anemia
Dyspnea, Anemia, Splenomegaly, Abnormality of iron homeostasis, Pallor ORPHA:75563
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... ORPHA:859
Ollier Disease
Lymphangioma, Subcutaneous nodule, Skin ulcer, Anemia ORPHA:296
Slc35A1-Cdg
Hypoxemia, Abnormal platelet granules, Respiratory distress, Giant platelets, Thrombocytopenia, P... ORPHA:238459
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Dyspnea, Pleural effusion, Anasarca, Edema, Pulmonary embolism, Facial edema, Respiratory tract i... ORPHA:567546
Glycogen Storage Disease Ii
Recurrent respiratory infections, Dyspnea, Increased circulating creatine kinase MB isoform, Resp... OMIM:232300
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence... OMIM:619652
Poems Syndrome
Pulmonary arterial hypertension, Polycythemia, Increased circulating antibody level, Edema, Restr... ORPHA:2905
Multiple Myeloma
Increased circulating IgA level, Anemia, Hyperproteinemia, Increased circulating IgG level, Lymph... ORPHA:29073
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Recurrent respiratory infections, Decreased proportion of class-switched memo... OMIM:619126
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Hemolytic anemia, Abnormality of the live... ORPHA:1572
Malignant Atrophic Papulosis
Pleural effusion, Papule, Constrictive pericarditis OMIM:602248
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Cough, Pancreatitis, Cardiorespiratory arrest, Pulmonary edema, Rhinor... ORPHA:188
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Chylous ascites, Intestinal lymphedema, Anasarca, Edema, Decreas... ORPHA:90363
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Dermal atrophy, Palpebral edema, Abnormality of the lymphatic system, Pleural ef... ORPHA:69735
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Pallor ORPHA:46532
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force... ORPHA:1303
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Familial Mediterranean Fever
Peritonitis, Pleuritis, Orchitis, Leukocytosis, Elevated circulating amyloid A, Erysipelas, Hepat... OMIM:249100
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Leukopenia, Enlarged kidney, Anemia, Bone marrow hypocellularit... OMIM:617303
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG2 lev... OMIM:300310
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, Pulmonary sequestration, Chr... ORPHA:70589
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Recurrent sinopulmonary infections, Autoim... OMIM:619846
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Decreased circulating total IgM, Leukopenia, Hepatomegaly, Lymp... OMIM:620210
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Chronic hepatitis, Colitis, Neutrophilia, Hep... ORPHA:3260
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Abnormality of the lymphatic system, Pericardial effus... ORPHA:1041
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Chronic bronchitis, Decreased circulating IgA level, Decreased c... OMIM:614069
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Respiratory insufficiency, Intraalveolar phosphol... OMIM:618042
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hemophagocytosis, Periodontitis, Epistaxis, Hepatosplenomegaly, Recurrent... ORPHA:167
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Skin rash, Pancytopenia, Thrombocytosis, Increased circ... OMIM:618963
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Hepatocellular carcinoma, Dyspnea, Jaundice, Chronic hepatitis,... ORPHA:231226
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Abnormality of the liver, Hepatomegaly, Respiratory... ORPHA:254864
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Liver abscess, Atelectasis, Impaired oxidative burst, Cough, Recurrent bac... OMIM:306400
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent respiratory infections, Atopic dermatitis, Increased circulating IgE level, Chronic muc... OMIM:618282
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Skin ulcer, Hypopigmented skin patches, Pulmonary fibrosis ORPHA:220402
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Abnormal circulating lipid concentration... ORPHA:542643
Simple Cryoglobulinemia
Localized skin lesion, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA, Arthr... ORPHA:91139
Wiskott-Aldrich Syndrome
Chronic otitis media, Chronic pulmonary obstruction, Hemolytic anemia, Epistaxis, Skin ulcer, Rec... ORPHA:906
Granulomatosis With Polyangiitis
Chronic otitis media, Pleuritis, Keratitis, Hemosiderin-laden macrophages in bronchoalveolar flui... OMIM:608710
Zika Virus Disease
Maculopapular exanthema, Edema, Skin rash, Arthritis, Increased circulating IgM level, Infectious... ORPHA:448237
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Inflamma... OMIM:615767
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Foot osteomyelitis, Skin ulcer ORPHA:139578
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Pleuritis, Abnormal circulating lipid concentration, Le... ORPHA:829
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Hepatomegaly, Thrombocytopenia, P... OMIM:617397
Immunodeficiency 13
Decreased CD4:CD8 ratio, Bronchiolitis obliterans organizing pneumonia, Lymphopenia, T lymphocyto... OMIM:615518
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Respirat... ORPHA:444463
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Streak ovary, Secondary ... OMIM:612310
Beta-Thalassemia Major
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Dyspnea, Anisopoikilocytosis, Extramedull... ORPHA:231214
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:409
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Mu-Heavy Chain Disease
Abnormal B cell count, Increased circulating antibody level, Anemia, Hepatomegaly, Lymphadenopath... ORPHA:100024
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Nonimmune hydrops fetalis, Chylous ascites, Edema, Polyhydramni... OMIM:265300
Familial Multiple Nevi Flammei
Edema, Hypermelanotic macule, Pulmonary embolism, Nevus flammeus, Papule, Skin ulcer ORPHA:624
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Uveitis, Hepatomegaly, Recurrent pneumonia... OMIM:615122
Prolidase Deficiency
Recurrent respiratory infections, Erythema, Dry skin, Hepatomegaly, Thin skin, Papule, Aplasia/Hy... ORPHA:742
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Chronic oral candidiasis... OMIM:606367
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Hyperammonemia, Anemia, Pancreatitis, Hepatomegaly, Respiratory distress, Thrombocyt... ORPHA:79312
Whim Syndrome 1
Decreased circulating IgG level, Bronchiectasis, Recurrent upper respiratory tract infections, De... OMIM:193670
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Catastrophic Antiphospholipid Syndrome
Myocarditis, Pulmonary arterial hypertension, Microangiopathic hemolytic anemia, Abnormality of s... ORPHA:464343
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronch... OMIM:619466
Reynolds Syndrome
Jaundice, Skin rash, Respiratory insufficiency, Keratoconjunctivitis sicca, Hepatomegaly, Xerosto... ORPHA:779
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Aspiration pneumonia, Cough, Elevated circulating creatine kinase concentration, Respira... ORPHA:90117
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine... OMIM:102700
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Recurrent respiratory infections, Myeloproliferative disorder, Leukocytosis... ORPHA:3226
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Nonimmune hydrops fetalis, Reduced haptoglobin level, Jau... OMIM:266200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Acute otitis media, Recurrent respiratory infections, Impaired lymphocyte tra... ORPHA:35078
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Asthma, Allergic rhinitis OMIM:147050
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Angioedema, Pharyngeal edema, Facial edema, Laryngeal edema, Tongue edema, Respiratory ... ORPHA:100057
Nocardiosis
Peritonitis, Pleuritis, Productive cough, Respiratory failure, Pneumothorax, Cutaneous abscess, S... ORPHA:31204
Acrogeria
Thin skin, Aplasia/Hypoplasia of the skin, Skin ulcer, Excessive wrinkled skin ORPHA:2500
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pleuritis, Leukocytosis, Hemolytic anemia, Dyspnea, Edema, Thrombocytopenia, Abnorma... ORPHA:544482
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Recurrent respiratory infections, Malar rash, Erythema, Leukopen... OMIM:615934
Immunodeficiency 11
Recurrent respiratory infections, Reduced antigen-specific T cell proliferation, Monocytopenia, A... OMIM:615206
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Lichen Planopilaris
Hypopigmented skin patches, Dermal atrophy, Hepatitis, Papule, Skin ulcer ORPHA:525
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased serum pyruvate, Respiratory distress ORPHA:238329
Agammaglobulinemia, X-Linked
Recurrent lower respiratory tract infections, B lymphocytopenia, Complete or near-complete absenc... OMIM:300755
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Skin rash OMIM:619175
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Erythema, Skin rash, Increased circula... OMIM:147060
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... OMIM:202700
Diarrhea 10, Protein-Losing Enteropathy Type
Recurrent upper respiratory tract infections, Anasarca, Polyhydramnios, Hypertriglyceridemia, Hyp... OMIM:618183
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Reduced delayed hypersensitivity, Recurre... OMIM:242700
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Dysgammaglobulinemia, Ascites ORPHA:100025
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... ORPHA:171
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Edema, Polyhydramnios, Periorbital edema, Facial edema, Genital edema,... OMIM:616843
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Elevated circulating creatine kinase concentration, Increased circulati... ORPHA:36234
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Sézary Syndrome
Abnormal immunoglobulin level, Edema, Abnormal pleura morphology, Dry skin, Abnormal lymphocyte m... ORPHA:3162
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased circulating beta-2-microglobulin level, Decreased proportion of CD4-positive helper T c... ORPHA:572
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Lymphadenopathy, Skin ulcer, Neoplasm of the liver ORPHA:424019
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Dyspnea, Increased circulating interleukin 6 conc... ORPHA:70578
Congenital Myopathy 10A, Severe Variant
Restrictive ventilatory defect, Respiratory insufficiency, Elevated circulating creatine kinase c... OMIM:614399
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Leukopenia, Anemia, Bone marrow hypocellularity, Dry skin, Decr... OMIM:618116
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Female infertility, Dextrocardia OMIM:617577
Immunodeficiency 22
Decreased circulating total IgM, Anemia, Abscess, Recurrent lower respiratory tract infections, D... OMIM:615758
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Increased circulating IgE level, Polyhydramnios, Recurrent pneumonia, Recurrent bron... OMIM:616069
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Periodontitis, Rectal abscess, Elevated circulating C-reactive protein concentratio... OMIM:116920
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor ORPHA:517
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... OMIM:301081
Granulomatosis With Polyangiitis
Chronic otitis media, Pleuritis, Chronic pulmonary obstruction, Epistaxis, Skin ulcer, Recurrent ... ORPHA:900
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Splenomegaly, Anemia OMIM:602079
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Respiratory distress, Sideroblast... OMIM:613561
Hereditary Sensory And Autonomic Neuropathy Type 1
Cough, Penetrating foot ulcers, Osteomyelitis, Skin ulcer ORPHA:36386
Juvenile Dermatomyositis
Dyspnea, Erythema, Skin rash, Restrictive ventilatory defect, Cough, Dry skin, Skin ulcer, Arthri... ORPHA:93672
Infantile Myofibromatosis
Hypercalcemia, Neoplasm of the pancreas, Neoplasm of the lung, Subcutaneous nodule, Skin ulcer ORPHA:2591
Immunodeficiency 87 And Autoimmunity
Hemolytic anemia, Anasarca, Cholestasis, Hepatomegaly, Hypokalemia, Necrotizing enterocolitis, Pu... OMIM:619573
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Ag... OMIM:615214
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... OMIM:615482
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Hepatomegaly, Hepatosplenomegaly, Recurrent ... ORPHA:79124
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Dyspnea, Tachypnea, Crescentic glomerulon... OMIM:616414
Selective Igm Deficiency
Chronic sinusitis, Decreased specific antibody response to vaccination, Decreased proportion of C... ORPHA:331235
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Increased circulating antibody level, Skin rash ORPHA:90000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Ovarian Fibroma
Peritonitis, Pleural effusion, Mesenteric cyst, Ascites ORPHA:314473
Pontocerebellar Hypoplasia, Type 13
Recurrent respiratory infections, Edema, Sleep apnea, Pleural effusion, Asthma OMIM:618606
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Hemophagocytosis, Colitis, Hepatomegaly, Reduced natural killer cell act... ORPHA:540
Buerger Disease
Skin ulcer ORPHA:36258
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Hepatomegaly, Spleno... OMIM:603554
Hemorrhagic Fever-Renal Syndrome
Dyspnea, Glomerulonephritis, Leukocytosis, Tubulointerstitial nephritis, Anemia, Cough, Increased... ORPHA:340
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... OMIM:610910
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ... ORPHA:60032
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Atelectasis, Edema, Respiratory distress, Pulmonary edema... OMIM:267450
Lassa Fever
Jaundice, Dyspnea, Cough, Facial edema, Increased circulating IgM level, Conjunctivitis ORPHA:99824
Gorham-Stout Disease
Edema, Rhinorrhea, Osteomyelitis, Pleural effusion, Lymphangioma ORPHA:73
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... ORPHA:169079
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Prolonged prothrombin time, Nonimmune hydrops fetalis, Respiratory insufficie... ORPHA:367
Dystrophic Epidermolysis Bullosa Pruriginosa
Milia, Skin plaque, Increased circulating IgE level, Dermal atrophy, Atrophic scars, Papule, Subc... ORPHA:89843
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatome... OMIM:615234
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Stomatitis, Skin rash, Recurrent bacterial skin infections, Autoimmune thromb... ORPHA:911
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent otitis... OMIM:618523
Noonan Syndrome 8
Palmoplantar cutis laxa, Left ventricular hypertrophy, Polyhydramnios, Pleural effusion, Eczema OMIM:615355
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level, Asthma OMIM:208600
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Skin rash, Anemia, Reduced natural killer cell count, Reduced natura... OMIM:616050
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Recurrent lower res... OMIM:619774
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... OMIM:608184
Microscopic Polyangiitis
Peritonitis, Erythema, Skin rash, Pancreatitis, Uveitis, Skin ulcer, Arthritis, Episcleritis, Sin... ORPHA:727
Drug-Induced Lupus Erythematosus
Dyspnea, Malar rash, Anemia, Increased blood urea nitrogen, Elevated circulating creatine kinase ... ORPHA:231111
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Recurrent otitis media OMIM:615993
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... ORPHA:37042
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Erythema, Anemia, Restrictive ventilatory defect, Pancreatitis,... ORPHA:537
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Stomatitis, Joint swelling, Skin rash, Abscess, Hepatomegaly, Pulmonary fibrosis, Respiratory dis... OMIM:612852
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG leve... ORPHA:2643
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Anemia, Pancreatitis, Hepatomegaly, Respiratory distress, Thrombocytopenia, Neutr... ORPHA:289916
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca, Autoimmu... OMIM:617388
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hennekam Syndrome
Recurrent respiratory infections, Hydrops fetalis, Erysipelas, Respiratory insufficiency, Lymphop... ORPHA:2136
Felty Syndrome
Chronic otitis media, Pleuritis, Hepatomegaly, Episcleritis, Synovitis, Subcutaneous nodule, Recu... ORPHA:47612
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating total IgM, Edema, Left ventricular hypertrophy, Polyhyd... ORPHA:79330
Zygomycosis
Peritonitis, Myocarditis, Skin plaque, Atelectasis, Colitis, Gastritis, Pneumothorax, Splenic abs... ORPHA:73263
Good Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the thymus, Dyspnea, Thymoma, Mediastinal... ORPHA:169105
Omenn Syndrome
Leukocytosis, Edema, Anemia, Dry skin, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly... ORPHA:39041
Cryptococcosis
Peritonitis, Dyspnea, Cough, Cirrhosis, Cerebral edema, Respiratory distress, Osteomyelitis, Pneu... ORPHA:1546
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Nonimmune hydrops fetalis, Impaired lymphocyte transformation with phyt... OMIM:619313
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Skin rash, Anemia, Periorbital edema, Myositis, Hepatomegal... OMIM:617591
Sarcoidosis
Maculopapular exanthema, Skin plaque, Hemolytic anemia, Keratoconjunctivitis sicca, Hepatomegaly,... ORPHA:797
Peeling Skin Syndrome 1
Increased circulating IgE level, Scaling skin, Eosinophilia, Asthma, Erythroderma OMIM:270300
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Erythema, Skin rash, Cheilitis, Cough, Hepatitis, Papule, Skin ... ORPHA:1334
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Restrictive ventilatory defect, Cough, Ch... ORPHA:538
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Anasarca, Edema, Thrombocytopenia, Normochromic anemia, Pleural effusion, Hypoalbuminemia OMIM:254900
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Skin rash, Recurrent aphthous stomatitis, Arthritis, Lymphadenopathy, Elevated circ... OMIM:611762
Neurogenic Arthrogryposis Multiplex Congenita
Skin dimple, Respiratory insufficiency due to muscle weakness, Respiratory distress, Oligohydramn... ORPHA:1143
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Riddle Syndrome
Bronchitis, Decreased circulating total IgM, Chronic sinusitis, Generalized lymphadenopathy, Eryt... ORPHA:420741
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... OMIM:301000
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:158061
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Colitis, Hepatomegaly, Gastritis, Decrease... ORPHA:3261
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Skin ulcer ORPHA:352723
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Increased serum pyruvate, Hepatomegaly OMIM:614741
Sepsis In Premature Infants
Jaundice, Dyspnea, Abnormal respiratory system physiology, Leukocytosis, Increased circulating in... ORPHA:90051
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Recurrent lower respiratory tract infections, Decreased specific pneumococcal ... ORPHA:183675
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Recurrent respiratory infections, Pulmonary arterial hypertension, Leukopenia... ORPHA:505248
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Desquamative interstiti... OMIM:615952
Iga Pemphigus
Increased circulating IgA level, Skin plaque, Skin erosion, Monoclonal elevation of circulating I... ORPHA:555905
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Liver abscess, Bacterial endocarditis, Cough, Hypoxemia... ORPHA:2038
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy, Eosinophilia ORPHA:482
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Erysipelas, Pleura