eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| central precocious puberty | ||||
| Disease ID | 1714 |
|---|---|
| Disease | central precocious puberty |
| Definition | Premature onset of sexual development triggered by the premature secretion of gonadotropins.(NICHD) |
| Synonym | central precocious puberty (disorder) gonadotropin-dependent precocious puberty precocious puberty, central |
| Orphanet | |
| UMLS | C0342543 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0342418 | hypothalamic hamartoma | 3 C0018552 | hamartoma | 3 C0041296 | tuberculosis | 2 C0025149 | medulloblastoma | 1 C1621895 | adrenal hyperplasia | 1 C0001627 | congenital adrenal hyperplasia | 1 C0022735 | klinefelter syndrome | 1 C0206620 | hygroma | 1 C0034013 | precocious puberty | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1714 |
|---|---|
| Disease | central precocious puberty |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:19) HP:0002444 | Hypothalamic hamartoma HP:0000821 | Underactive thyroid HP:0003508 | Proportionate short stature HP:0001061 | Acne HP:0004322 | Stature below 3rd percentile HP:0000957 | Cafe-au-lait spot HP:0002805 | Accelerated bone age after puberty HP:0001513 | Obesity HP:0002686 | Prenatal maternal abnormality HP:0004324 | Increased body weight HP:0000837 | Increased circulating gonadotropin level HP:0008232 | Elevated follicle-stimulating hormone HP:0011969 | Elevated luteinizing hormone HP:0000238 | Hydrocephalus HP:0001287 | Meningitis HP:0001548 | Overgrowth HP:0008236 | Isosexual precocious puberty HP:0009888 | Abnormality of secondary sexual hair HP:0010314 | Premature thelarche |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) |
| Disease ID | 1714 |
|---|---|
| Disease | central precocious puberty |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0016429 | ovarian follicular cyst |
| 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 |
| rs121908499 | NA | 84634 | KISS1R | umls:C0342543 | CLINVAR | NA | 0.241628651 | NA | KISS1R | 19 | 920708 | G | C |
| rs192636495 | 20631455 | 3814 | KISS1 | umls:C0342543 | BeFree | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 0.001628651 | 2010 | KISS1 | 1 | 204190573 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008232 | Elevated follicle stimulating hormone | MP:0003967 | abnormal follicle stimulating hormone level | anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly |
| HP:0000837 | Increased circulating gonadotropin level | MP:0011533 | increased urine major urinary protein level | increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine |
| HP:0004324 | Increased body weight | MP:0001262 | decreased body weight | lower than normal average weight |
| HP:0000957 | Cafe-au-lait spot | MP:0002939 | head spot | the appearance of a round area of white fur on the head |
| HP:0002805 | Accelerated bone age after puberty | MP:0008271 | abnormal bone ossification | any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0011969 | Elevated luteinizing hormone | MP:0003967 | abnormal follicle stimulating hormone level | anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly |
| HP:0003508 | Proportionate short stature | MP:0004708 | short lumbar vertebrae | reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000837 | Increased circulating gonadotropin level | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008236 | Isosexual precocious puberty | MP:0013308 | decreased adrenal gland weight | reduced average weight 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 medulla |
| HP:0002805 | Accelerated bone age after puberty | MP:0011425 | abnormal kidney interstitium morphology | any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchym |
| HP:0011969 | Elevated luteinizing hormone | MP:0013604 | abnormal adult Leydig cell differentiation | atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that contr |
| HP:0001287 | Meningitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001548 | Overgrowth | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000957 | Cafe-au-lait spot | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0003508 | Proportionate short stature | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002444 | Hypothalamic hamartoma | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0004324 | Increased body weight | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0010314 | Premature thelarche | MP:0013239 | impaired skeletal muscle regeneration | reduced ability to repair skeletal muscle after injury or disease |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008232 | Elevated follicle stimulating hormone | MP:0013604 | abnormal adult Leydig cell differentiation | atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that contr |
| HP:0002686 | Prenatal maternal abnormality | MP:0011092 | embryonic lethality, complete penetrance | death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14) |
| Disease ID | 1714 |
|---|---|
| Disease | central precocious puberty |
| Case | (Waiting for update.) |