eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hypoadrenalism | ||||
| Disease ID | 1421 |
|---|---|
| Disease | hypoadrenalism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0020649 | hypotension | 6 C0020625 | hyponatremia | 6 C0020598 | hypoglycemia | 4 C0015672 | fatigue | 4 C0151467 | adrenal crisis | 4 C0020676 | hypothyroidism | 4 C0341714 | renal lymphoma | 2 C0020437 | hypercalcemia | 2 C0342500 | adrenal mass | 1 C1168291 | ampulla cardiomyopathy | 1 C0344432 | polymorphic ventricular tachycardia | 1 C0020550 | hyperthyroidism | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894086 | 11509019 | 6770 | STAR | umls:C0001623 | BeFree | We report a novel homozygous splice site mutation (IVS1 + 2T --> G) in STAR in two sisters (46XY, 46XX) who presented with primary adrenal insufficiency at birth and a novel homozygous R182H missense mutation in the putative lipid transfer domain of StAR in a phenotypic female (46XY) with adrenal failure and a parotid tumor. | 0.002171535 | 2001 | STAR | 8 | 38146068 | C | T,A |
| rs104894118 | 15472171 | 2516 | NR5A1 | umls:C0001623 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.128067311 | 2004 | NR5A1 | 9 | 124500196 | C | A |
| rs104894119 | 15472171 | 2516 | NR5A1 | umls:C0001623 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.128067311 | 2004 | NR5A1 | 9 | 124500685 | C | T |
| rs104894897 | 11443184 | 190 | NR0B1 | umls:C0001623 | BeFree | All DAX-1 missense mutant constructs showed marked loss of repressor function, with the exception of I439S, a mutation previously shown to be associated with delayed-onset adrenal failure and incomplete hypogonadotropic hypogonadism. | 0.007328931 | 2001 | NR0B1 | X | 30304676 | A | C |
| rs104894899 | 11113848 | 190 | NR0B1 | umls:C0001623 | BeFree | A novel DAX1 mutation (L381H) was discovered in the asymptomatic 8-month-old brother of a boy with primary adrenal failure. | 0.007328931 | 2000 | NR0B1 | X | 30308222 | A | T |
| rs104894906 | 12629128 | 190 | NR0B1 | umls:C0001623 | BeFree | Immunohistochemical analysis of testicular tissue obtained from an affected sibling of the subject with the Y399X mutation, who had died with adrenal failure as a neonate, showed normal testicular morphology and expression of DAX-1, steroidogenic factor-1, and anti-Mullerian hormone protein. | 0.007328931 | 2003 | NR0B1 | X | 30304795 | G | T |
| rs104894906 | 12629128 | 268 | AMH | umls:C0001623 | BeFree | Immunohistochemical analysis of testicular tissue obtained from an affected sibling of the subject with the Y399X mutation, who had died with adrenal failure as a neonate, showed normal testicular morphology and expression of DAX-1, steroidogenic factor-1, and anti-Mullerian hormone protein. | 0.000271442 | 2003 | NR0B1 | X | 30304795 | G | T |
| rs121918654 | 15472171 | 2516 | NR5A1 | umls:C0001623 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.128067311 | 2004 | NA | NA | NA | NA | NA |
| rs121918654 | 12907682 | 2516 | NR5A1 | umls:C0001623 | BeFree | Not long ago, a mutation (G35E) in the human SF-1 gene was identified as the cause of sex reversal and adrenal failure in a phenotypically female but genotypically XY individual. | 0.128067311 | 2003 | NA | NA | NA | NA | NA |
| rs121918655 | 20453312 | 2516 | NR5A1 | umls:C0001623 | BeFree | Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. | 0.128067311 | 2010 | NR5A1 | 9 | 124493143 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1421 |
|---|---|
| Disease | hypoadrenalism |
| Case | (Waiting for update.) |