eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| carney-stratakis syndrome | ||||
| Disease ID | 1076 |
|---|---|
| Disease | carney-stratakis syndrome |
| Definition | A rare, inherited disorder marked by tumors of the gastrointestinal tract and tumors that form in embryonic nervous tissue in the head, neck, and torso. |
| Synonym | carney dyad carney stratakis dyad carney stratakis syndrome carney-stratakis dyad paraganglioma and gastric stromal sarcoma paraganglioma and gastric stromal sarcoma syndrome paraganglioma and gastric stromal sarcoma syndrome (disorder) paraganglioma and gastrointestinal stromal tumor |
| Orphanet | |
| OMIM | |
| UMLS | C1847319 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 1076 |
|---|---|
| Disease | carney-stratakis syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0002239 | Gastrointestinal hemorrhage HP:0007378 | Gastrointestinal tract neoplasm HP:0002668 | Paragangliomas HP:0002668 | Paraganglioma HP:0002015 | Dysphagia HP:0000365 | Hearing impairment HP:0002027 | Abdominal pain HP:0001824 | Weight loss HP:0006824 | Cranial nerve paralysis HP:0100723 | Gastrointestinal stroma tumor HP:0000360 | Tinnitus HP:0005214 | Intestinal obstruction |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1076 |
|---|---|
| Disease | carney-stratakis syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587776649 | NA | 6392 | SDHD | umls:C1847319 | CLINVAR | NA | 0.361628651 | NA | SDHD;TIMM8B | 11 | 112087861 | G | - |
| rs587776653 | NA | 6391 | SDHC | umls:C1847319 | CLINVAR | NA | 0.36 | NA | SDHC | 1 | 161356841 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100723 | Gastrointestinal stroma tumor | MP:0010279 | increased gastrointestinal tumor incidence | greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100723 | Gastrointestinal stroma tumor | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000360 | Tinnitus | 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0007378 | Neoplasm of the gastrointestinal tract | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002668 | Paraganglioma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| Disease ID | 1076 |
|---|---|
| Disease | carney-stratakis syndrome |
| Case | (Waiting for update.) |