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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   familial isolated hyperparathyroidism
  

Disease ID 1890
Disease familial isolated hyperparathyroidism
Synonym
hrpt1
hyperparathyroidism 1
hyperparathyroidism, familial isolated primary
Orphanet
OMIM
UMLS
C1840402
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
4221  |  MEN1  |  CLINVAR;CTD_human;UNIPROT
79577  |  CDC73  |  CLINVAR;CTD_human;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:2)
CDC73  |  1q31.2
MEN1  |  11q13
Disease ID 1890
Disease familial isolated hyperparathyroidism
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:14)
HP:0003109  |  Hyperphosphaturia
HP:0003072  |  Hypercalcemia
HP:0040160  |  Generalized osteoporosis
HP:0002150  |  Hypercalciuria
HP:0011458  |  Abdominal symptom
HP:0000121  |  Nephrocalcinosis
HP:0003165  |  Elevated circulating parathyroid hormone level
HP:0000938  |  Osteopenia
HP:0000934  |  Chondrocalcinosis
HP:0008250  |  Infantile hypercalcemia
HP:0008200  |  Primary hyperparathyroidism
HP:0002148  |  Hypophosphatemia
HP:0002897  |  Parathyroid adenoma
HP:0000083  |  Renal insufficiency
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
HP:0003072  |  Hypercalcemia  |  1
Disease ID 1890
Disease familial isolated hyperparathyroidism
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:6)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894262NA4221MEN1umls:C1840402CLINVARNA0.443800186NAMEN11164807994AT
rs104894268NA4221MEN1umls:C1840402CLINVARNA0.443800186NAMEN11164807572CT
rs121434264NA79577CDC73umls:C1840402CLINVARNA0.363257302NACDC73;LOC1019291601193125171TC
rs587776558NA79577CDC73umls:C1840402CLINVARNA0.363257302NACDC73;LOC1019291601193122332GA
rs794727303NA79577CDC73umls:C1840402CLINVARNA0.363257302NACDC73;LOC1019291601193125218GT
rs80356649NA79577CDC73umls:C1840402CLINVARNA0.363257302NACDC731193142016-AG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:4)
HP ID HP Name MP ID MP Name Annotation
HP:0003165Elevated circulating parathyroid hormone (PTH) levelMP:0011612increased circulating ghrelin levelgreater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from th
HP:0040160Generalized osteoporosisMP:0000066osteoporosisreduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility
HP:0002897Parathyroid adenomaMP:0013383increased sebaceous gland adenoma incidencegreater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period
HP:0000083Renal insufficiencyMP:0003335exocrine pancreatic insufficiencyinadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients
Mapped by homologous gene(Total Items:13)
HP ID HP Name MP ID MP Name Annotation
HP:0003165Elevated circulating parathyroid hormone (PTH) levelMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0008200Primary hyperparathyroidismMP:0013572abnormal parathyroid gland chief cell morphologyany structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH)
HP:0008250Infantile hypercalcemiaMP:0011228abnormal vitamin D levelany anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin
HP:0002148HypophosphatemiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0003072HypercalcemiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000083Renal insufficiencyMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002897Parathyroid adenomaMP:0013602abnormal Leydig cell differentiationatypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development
HP:0000938OsteopeniaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0040160Generalized osteoporosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003109HyperphosphaturiaMP:0013774decreased KLRG1-positive T-helper cell numberreduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0002150HypercalciuriaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000121NephrocalcinosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000934ChondrocalcinosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 1890
Disease familial isolated hyperparathyroidism
Case(Waiting for update.)