eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial male-limited precocious puberty | ||||
| Disease ID | 1304 |
|---|---|
| Disease | familial male-limited precocious puberty |
| Definition | Premature development of secondary sexual characteristics due to the presence of sex steroids independent of pituitary gonadotropin release.(NICHD) |
| Synonym | familial gonadotrophin-independent sexual precocity familial testotoxicosis gonadotrophin-independent familial sexual precocity gonadotrophin-independent precocious puberty gonadotropin-independent familial sexual precocity gonadotropin-independent familial sexual precocity (disorder) gonadotropin-independent precocious puberty peripheral precocious puberty precocious puberty, gonadotropin-independent precocious puberty, male-limited pseudoprecocious puberty sexual precocity, familial, gonadotropin-independent testotoxicosis, familial |
| Orphanet | |
| OMIM | |
| UMLS | C0342549 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0029927 | ovarian cyst | 2 C0206686 | adrenocortical carcinoma | 1 C0242292 | mccune-albright syndrome | 1 C0085113 | neurofibromatosis | 1 C0206661 | gonadoblastoma | 1 C0242292 | albright syndrome | 1 C0029927 | ovarian cysts | 1 |
| 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) LHCGR | 2p16.3 |
| Disease ID | 1304 |
|---|---|
| Disease | familial male-limited precocious puberty |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0000053 | Macroorchidism HP:0000708 | Behavioral abnormality HP:0000098 | Tall stature HP:0001061 | Acne HP:0008185 | Early onset of puberty in males HP:0000798 | Oligospermia HP:0000826 | Precocious puberty HP:0008734 | Decreased testicular size HP:0000040 | Long penis HP:0003251 | Male infertility HP:0007018 | Attention deficit hyperactivity disorder HP:0001595 | Abnormality of the hair HP:0005616 | Accelerated skeletal maturation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0000138 | Ovarian cyst | 2 HP:0006744 | Adrenal carcinoma | 1 HP:0000150 | Gonadoblastoma | 1 HP:0030731 | Carcinoma | 1 HP:0001067 | Neurofibromas | 1 HP:0000832 | Primary hypothyroidism | 1 |
| Disease ID | 1304 |
|---|---|
| Disease | familial male-limited precocious puberty |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912518 | 23861372 | 3973 | LHCGR | umls:C0342549 | BeFree | To generate a mouse model for the human disease, we have introduced an aspartic acid to glycine mutation in amino acid residue 582 (D582G) of the mouse LHR gene corresponding to the most common D578G mutation found in boys with familial male-limited precocious puberty (FMPP). | 0.367524428 | 2013 | LHCGR;STON1-GTF2A1L | 2 | 48688064 | T | C |
| rs121912526 | 8607787 | 3973 | LHCGR | umls:C0342549 | BeFree | We describe a Japanese patient with male-limited precocious puberty who has a heterozygous thymine to cytosine (T to C) transition at nucleotide 1193; the mutation encodes a methionine to threonine substitution in residue 398 (M398T) of transmembrane helix 2 of the luteinizing hormone/choriogonadotropin receptor. | 0.367524428 | 1996 | LHCGR;STON1-GTF2A1L | 2 | 48688604 | A | G |
| rs28934586 | 9329393 | 1584 | CYP11B1 | umls:C0342549 | BeFree | We found the typical plasma steroid pattern of 11 beta-hydroxylase deficiency and identified the R448H mutation in the CYP11B1 gene in a boy presenting with pseudoprecocious puberty at age 2 yr. | 0.000542884 | 1997 | CYP11B1;GML | 8 | 142875012 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal cha |
| HP:0003251 | Male infertility | MP:0001924 | infertility | inability to produce live offspring |
| HP:0005616 | Accelerated skeletal maturation | MP:0003378 | early sexual maturation | pubertal changes occur at an earlier than normal age |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| HP:0000040 | Long penis | MP:0005188 | small penis | reduced size of the organ of copulation and urination in the male |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003251 | Male infertility | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000053 | Macroorchidism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008185 | Precocious puberty in males | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0000826 | Precocious puberty | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0005616 | Accelerated skeletal maturation | 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:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000098 | Tall stature | MP:0020039 | increased bone ossification | increase 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:0000040 | Long penis | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000798 | Oligospermia | MP:0013505 | decreased embryonic tissue cell apoptosis | decrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| Disease ID | 1304 |
|---|---|
| Disease | familial male-limited precocious puberty |
| Case | (Waiting for update.) |