PedAM

Pediatric Disease Annotations & Medicines


	familial male-limited precocious puberty

Disease ID	757
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	ORPHANET:3000 ORPHANET:178040
OMIM	OMIM:176410
UMLS	C0342549
SNOMED-CT	SNOMEDCT_US_2016_09_01:237818003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0085113 \| neurofibromatosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) LHCGR \| 3973 \| CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) LHCGR \| 2p16.3

Disease ID	757
Disease	familial male-limited precocious puberty
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0008734 \| Decreased testicular size HP:0007018 \| Attention deficit hyperactivity disorder HP:0000798 \| Oligospermia HP:0001595 \| Abnormality of the hair HP:0003251 \| Male infertility HP:0000708 \| Behavioral abnormality HP:0001061 \| Acne HP:0000053 \| Macroorchidism HP:0000098 \| Tall stature HP:0005616 \| Accelerated skeletal maturation HP:0000040 \| Long penis HP:0000826 \| Precocious puberty HP:0008185 \| Early onset of puberty in males
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001067 \| Neurofibromas \| 1

Disease ID	757
Disease	familial male-limited precocious puberty
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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