eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| good syndrome | ||||
| Disease ID | 703 |
|---|---|
| Disease | good syndrome |
| Definition | An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. [url:http://en.wikipedia.org/wiki/Good_syndrome, url:http://icvts.ctsnetjournals.org/cgi/reprint/9/4/750] - NORD Reference: NORD |
| Synonym | good's syndrome goods syndrome immunodeficiency with thymoma immunodeficiency with thymoma (disorder) thymoma with immunodeficiency |
| Orphanet | |
| DOID | |
| UMLS | C0221027 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0281963 | red cell aplasia | 4 C0034902 | pure red cell aplasia | 4 C0270612 | leukoencephalopathy | 3 C0023524 | progressive multifocal leukoencephalopathy | 3 C0040100 | thymoma | 3 C0206178 | cmv retinitis | 1 C0024312 | lymphopenia | 1 C0002171 | alopecia areata | 1 C0221027 | good syndrome | 1 C0035333 | retinitis | 1 C0206178 | cytomegalovirus retinitis | 1 C0205969 | malignant thymoma | 1 C0002170 | alopecia | 1 C0011991 | diarrhea | 1 C0023646 | lichen planus | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:28) 375790 | AGRN | 1.968 | DISEASES 930 | CD19 | 1.291 | DISEASES 959 | CD40LG | 1.911 | DISEASES 55748 | CNDP2 | 2.314 | DISEASES 2833 | CXCR3 | 1.094 | DISEASES 27436 | EML4 | 1.625 | DISEASES 1969 | EPHA2 | 2.468 | DISEASES 2051 | EPHB6 | 3.807 | DISEASES 50943 | FOXP3 | 1.256 | DISEASES 4038 | LRP4 | 2.602 | DISEASES 4043 | LRPAP1 | 2.313 | DISEASES 100507436 | MICA | 1.523 | DISEASES 727897 | MUC5B | 2.816 | DISEASES 3084 | NRG1 | 1.435 | DISEASES 5100 | PCDH8 | 2.72 | DISEASES 5133 | PDCD1 | 1.3 | DISEASES 5537 | PPP6C | 2.428 | DISEASES 83482 | SCRT1 | 2.532 | DISEASES 6400 | SEL1L | 2.88 | DISEASES 6444 | SGCD | 2.153 | DISEASES 9058 | SLC13A2 | 1.661 | DISEASES 284111 | SLC13A5 | 1.668 | DISEASES 23583 | SMUG1 | 1.323 | DISEASES 8676 | STX11 | 2.751 | DISEASES 6949 | TCOF1 | 2.386 | DISEASES 7124 | TNF | 1.064 | DISEASES 7133 | TNFRSF1B | 1.206 | DISEASES 7153 | TOP2A | 1.459 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 703 |
|---|---|
| Disease | good syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:20) HP:0001618 | Dysphonia HP:0002094 | Dyspnea HP:0003473 | Fatigable weakness HP:0001873 | Thrombocytopenia HP:0002110 | Bronchiectasis HP:0100721 | Mediastinal lymphadenopathy HP:0002014 | Diarrhea HP:0000246 | Sinusitis HP:0001903 | Anemia HP:0000819 | Diabetes mellitus HP:0002015 | Dysphagia HP:0004313 | Decreased antibody level in blood HP:0100522 | Thymoma HP:0010515 | Aplasia/Hypoplasia of the thymus HP:0012735 | Cough HP:0000010 | Recurrent urinary tract infections HP:0000508 | Ptosis HP:0001581 | Recurrent skin infections HP:0001881 | Abnormality of leukocytes HP:0002205 | Recurrent respiratory infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002721 | Immunodeficiency | 4 HP:0012410 | Pure red cell aplasia | 4 HP:0002352 | Leukoencephalopathy | 3 HP:0100522 | Thymoma | 3 HP:0006532 | Pneumonia, recurrent episodes | 1 HP:0002229 | Alopecia areata | 1 HP:0002028 | Chronic diarrhea | 1 HP:0001596 | Hair loss | 1 HP:0002014 | Diarrhea | 1 HP:0005425 | Recurrent sinopulmonary infections | 1 HP:0001888 | Lymphocytopenia | 1 HP:0002719 | infections, recurrent | 1 HP:0004313 | Decreased immunoglobulin level | 1 |
| Disease ID | 703 |
|---|---|
| Disease | good syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0004313 | Decreased antibody level in blood | MP:0011460 | decreased urine chloride ion level | abnormally low amounts of chloride ion in the urine |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0003473 | Fatigable weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003473 | Fatigable weakness | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0100721 | Mediastinal lymphadenopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002110 | Bronchiectasis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001618 | Dysphonia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000246 | Sinusitis | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0004313 | Decreased antibody level in blood | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| Disease ID | 703 |
|---|---|
| Disease | good syndrome |
| Case | (Waiting for update.) |