eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial gestational hyperthyroidism | ||||
| Disease ID | 1929 |
|---|---|
| Disease | familial gestational hyperthyroidism |
| Synonym | familial gestational hyperthyroidism (disorder) hyperthyroidism, familial gestational |
| Orphanet | |
| OMIM | |
| UMLS | C1863959 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) TSHR | 14q24-q31 |
| Disease ID | 1929 |
|---|---|
| Disease | familial gestational hyperthyroidism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0000836 | Overactive thyroid HP:0000752 | Hyperactivity HP:0000853 | Goiter HP:0012188 | Hyperemesis gravidarum HP:0011784 | Thyrotoxicosis with diffuse goiter HP:0000520 | Proptosis HP:0001270 | Motor delay HP:0011790 | Activating thyroid-stimulating hormone receptor (TSHR) defect HP:0002014 | Diarrhea HP:0002378 | Hand tremor HP:0001824 | Weight loss HP:0000713 | Agitation HP:0030057 | Autoimmune antibody positivity HP:0008249 | Thyroid hyperplasia HP:0002360 | Sleep disturbance HP:0001673 | Tachycardia (with pheochromocytoma) HP:0000836 | Hyperthyroidism |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1929 |
|---|---|
| Disease | familial gestational hyperthyroidism |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908879 | NA | 7253 | TSHR | umls:C1863959 | CLINVAR | NA | 0.48 | NA | TSHR;LOC101928462 | 14 | 81096641 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000836 | Hyperthyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001673 | Tachycardia (with pheochromocytoma) | 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 |
| HP:0008249 | Thyroid hyperplasia | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0012188 | Hyperemesis gravidarum | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002378 | Hand tremor | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0000853 | Goiter | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000713 | Agitation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000752 | Hyperactivity | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| Disease ID | 1929 |
|---|---|
| Disease | familial gestational hyperthyroidism |
| Case | (Waiting for update.) |