FMPP
MCID: PRC038
MIFTS: 51

Precocious Puberty, Male-Limited (FMPP)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Precocious Puberty, Male-Limited

MalaCards integrated aliases for Precocious Puberty, Male-Limited:

Name: Precocious Puberty, Male-Limited 56 54
Testotoxicosis 12 74 52 25 58 73 71
Familial Male-Limited Precocious Puberty 12 25 58 36
Gonadotropin-Independent Familial Sexual Precocity 29 6 39
Familial Testotoxicosis 52 43 71
Fmpp 12 58 73
Familial Gonadotropin-Independent Male-Limited Sexual Precocity 12 58
Leydig Cell Adenoma, Somatic, with Precocious Puberty 56 13
Sexual Precocity, Familial, Gonadotropin-Independent 56 52
Male-Limited Precocious Puberty 12 58
Pubertas Praecox 52 25
Familial Gonadotrophin-Independent Sexual Precocity 25
Gonadotrophin-Independent Precocious Puberty 25
Precocious Puberty, Male Limited 52
Familial Male Precocious Puberty 73
Precocious Puberty in Males 6
Testotoxicosis, Familial 56
Precocious Puberty, Male 56
Precocious Pseudopuberty 25
Gipp 25

Characteristics:

Orphanet epidemiological data:

58
familial male-limited precocious puberty
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
sex-limited autosomal dominant


HPO:

31
precocious puberty, male-limited:
Inheritance sex-limited autosomal dominant


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0111545
OMIM 56 176410
KEGG 36 H02019
MeSH 43 C536961
MESH via Orphanet 44 C536961
ICD10 via Orphanet 33 E30.1
UMLS via Orphanet 72 C0342549 C1504412
Orphanet 58 ORPHA3000
UMLS 71 C0342549 C1504412

Summaries for Precocious Puberty, Male-Limited

NIH Rare Diseases : 52 Testotoxicosis is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. The disease generally presents between 2 and 4 years of age. Patients have accelerated growth, early development of secondary sexual characteristics and reduced adult height. Testotoxicosis is caused by an activating mutation of the luteinizing hormone receptor (LHCGR) gene , which leads to increased levels of sex steroids in the context of low luteinizing hormone . The condition may be sporadic or transmitted as a dominant trait . It is only expressed in males. Treatment consists of reducing hyperandrogenism in children (sexual maturation, stature), with ketoconazole or a combination of antiandrogens and aromatase inhibitors.

MalaCards based summary : Precocious Puberty, Male-Limited, also known as testotoxicosis, is related to leydig cell tumor and precocious puberty. An important gene associated with Precocious Puberty, Male-Limited is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Calcium signaling pathway and Prolactin signaling pathway. The drugs Anastrozole and Bicalutamide have been mentioned in the context of this disorder. Affiliated tissues include testes, testis and pituitary, and related phenotypes are precocious puberty and tall stature

Disease Ontology : 12 An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has material basis in heterozygous mutation in LHCGR on chromosome 2p16.3.

Genetics Home Reference : 25 Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.

OMIM : 56 Familial male precocious puberty is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by age 4 years (Shenker et al., 1993). (176410)

KEGG : 36 Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing hormone-releasing hormone and serum luteinizing hormone levels. Activating mutations in the human luteinizing hormone receptor (hLHR) have been described.

UniProtKB/Swiss-Prot : 73 Familial male precocious puberty: In FMPP the receptor is constitutively activated.

Wikipedia : 74 Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual... more...

Related Diseases for Precocious Puberty, Male-Limited

Diseases related to Precocious Puberty, Male-Limited via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 leydig cell tumor 30.2 LHCGR CYP19A1
2 precocious puberty 30.1 LHCGR CYP19A1
3 estrogen excess 29.8 FSHR CYP19A1
4 hypogonadotropic hypogonadism 29.6 LHCGR CYP19A1
5 hypogonadism 29.5 LHCGR CYP19A1
6 pseudohermaphroditism 29.1 LHCGR FSHR CYP19A1
7 amenorrhea 29.1 LHCGR FSHR CYP19A1
8 infertility 29.1 LHCGR FSHR CYP19A1
9 cortisone reductase deficiency 1 11.5
10 cortisone reductase deficiency 2 11.5
11 meningitis 10.6
12 juvenile type testicular granulosa cell tumor 10.6
13 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
14 fibrous dysplasia 10.5
15 tuberculous meningitis 10.5
16 hemihyperplasia, isolated 10.4
17 ovarian cyst 10.4
18 precocious puberty, central, 1 10.3
19 helix syndrome 10.3
20 hypogonadotropism 10.3
21 nevus, epidermal 10.3
22 hydrocephalus 10.3
23 hypothyroidism 10.3
24 hypothalamic disease 10.3
25 choriocarcinoma 10.3
26 craniopharyngioma 10.3
27 glioma 10.3
28 glial tumor 10.3
29 mccune-albright syndrome 10.2
30 leri-weill dyschondrosteosis 10.2
31 germinoma 10.2
32 embryonal carcinoma 10.2
33 embryonal testis carcinoma 10.2
34 enchondromatosis, multiple, ollier type 10.2
35 lipoid congenital adrenal hyperplasia 10.2
36 adrenocortical carcinoma, hereditary 10.2
37 yemenite deaf-blind hypopigmentation syndrome 10.2
38 glucocorticoid resistance, generalized 10.2
39 adrenal cortical carcinoma 10.2
40 aphasia 10.2
41 conn's syndrome 10.2
42 sertoli-leydig cell tumor 10.2
43 vaginal discharge 10.2
44 adrenal carcinoma 10.2
45 adrenal cortical adenocarcinoma 10.2
46 granulosa cell tumor of the ovary 10.2
47 neurofibromatosis, type ii 10.2
48 neurofibromatosis, type i 10.2
49 neurofibromatosis, type iv, of riccardi 10.2
50 autosomal recessive disease 10.2

Graphical network of the top 20 diseases related to Precocious Puberty, Male-Limited:



Diseases related to Precocious Puberty, Male-Limited

Symptoms & Phenotypes for Precocious Puberty, Male-Limited

Human phenotypes related to Precocious Puberty, Male-Limited:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 precocious puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000826
2 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
3 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
4 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
5 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
6 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
7 abnormal hair morphology 31 frequent (33%) HP:0001595
8 macroorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000053
9 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
10 oligospermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000798
11 behavioral abnormality 58 Occasional (29-5%)
12 decreased testicular size 31 HP:0008734
13 abnormality of the hair 58 Frequent (79-30%)
14 precocious puberty in males 31 HP:0008185

Symptoms via clinical synopsis from OMIM:

56
G U:
small testes

Lab:
increased gonadotropin-independent gonadal testosterone secretion
low basal and gonadotropin-releasing hormone-induced secretion of luteinizing hormone (lh)
advanced spermatogenesis on testis biopsy
novel plasma stimulator of testicular testosterone

Endocrine:
male-limited sexual precocity
extremely rapid virilization

Clinical features from OMIM:

176410

MGI Mouse Phenotypes related to Precocious Puberty, Male-Limited:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.8 CYP19A1 FSHR LHCGR

Drugs & Therapeutics for Precocious Puberty, Male-Limited

Drugs for Precocious Puberty, Male-Limited (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
2
Bicalutamide Approved Phase 2 90357-06-5 56069 2375
3
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
4
Testolactone Approved, Investigational Phase 2 968-93-4 13769
5
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 6013 10204
6
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
7 Estrogens Phase 2
8 Aromatase Inhibitors Phase 2
9 Hormone Antagonists Phase 2
10 Androgen Antagonists Phase 2
11 Antineoplastic Agents, Hormonal Phase 2
12 Estrogen Antagonists Phase 2
13 Steroid Synthesis Inhibitors Phase 2
14 Estrogen Receptor Antagonists Phase 2
15 Hormones Phase 2
16 Mineralocorticoids Phase 2
17 Mineralocorticoid Receptor Antagonists Phase 2
18 Natriuretic Agents Phase 2
19 Diuretics, Potassium Sparing Phase 2
20 diuretics Phase 2
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22
Racepinephrine Approved 329-65-7 838
23
Inulin Approved, Investigational, Nutraceutical 9005-80-5 24763
24 Androgens
25 Sympathomimetics
26 Epinephryl borate
27 Respiratory System Agents
28 Neurotransmitter Agents
29 Vasoconstrictor Agents
30 Anti-Asthmatic Agents
31 Adrenergic beta-Agonists
32 Adrenergic Agonists
33 Bronchodilator Agents
34 Autonomic Agents
35 Mydriatics
36 Adrenergic Agents
37 Bifidobacterium
38 Acidophilus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Non-comparative, Multi-centre Study to Assess the Efficacy and Safety of Bicalutamide When Used in Combination With Anastrozole for the Treatment of Gonadotropin-independent Precocious Puberty in Boys With Testotoxicosis Completed NCT00094328 Phase 2 Bicalutamide;Anastrozole
2 Spironolactone and Testolactone Treatment of Boys With Familial Isosexual Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
3 Adolescence, Puberty, Hormones, and Emotion Regulation: An fMRI Study Completed NCT00016731
4 Exploratory Study Aiming at Assessing the Impact of Specific and Controlled Diets Combined With a Fermented Milk Product on Gas-related Symptoms and Associated Measurements in FGID and Non-FGID Subjects Completed NCT02936713
5 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159
6 Fermented Milk Product With Probiotic and Its Impact on Mood of Patients With Treatment Resistant Depression Suspended NCT03317678

Search NIH Clinical Center for Precocious Puberty, Male-Limited

Cochrane evidence based reviews: familial testotoxicosis

Genetic Tests for Precocious Puberty, Male-Limited

Genetic tests related to Precocious Puberty, Male-Limited:

# Genetic test Affiliating Genes
1 Gonadotropin-Independent Familial Sexual Precocity 29 LHCGR

Anatomical Context for Precocious Puberty, Male-Limited

MalaCards organs/tissues related to Precocious Puberty, Male-Limited:

40
Testes, Testis, Pituitary, Ovary, Bone, Heart, Tongue

Publications for Precocious Puberty, Male-Limited

Articles related to Precocious Puberty, Male-Limited:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors. 61 56 6
11857565 2002
2
Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty. 54 56 6
11391350 2001
3
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. 56 6
10580072 1999
4
Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor. 56 6
9703386 1998
5
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. 56 6
7692306 1993
6
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. 54 6
11134146 2000
7
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). 61 6
7562970 1995
8
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. 54 6
7892197 1995
9
Familial testotoxicosis in a Chinese family. 61 56
8194554 1994
10
Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. 61 56
3901957 1985
11
Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. 61 56
3917500 1985
12
Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. 61 56
6223935 1983
13
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. 6
9661624 1998
14
A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. 6
9467560 1998
15
Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study. 6
8855841 1996
16
A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. 6
8929952 1996
17
A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. 6
7714085 1995
18
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. 6
7757065 1995
19
A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. 6
7527413 1994
20
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. 6
8281137 1993
21
A novel testis-stimulating factor in familial male precocious puberty. 56
1898671 1991
22
Treatment of familial male precocious puberty with spironolactone and testolactone. 56
2492636 1989
23
Male-limited familial precocious puberty in three generations. Apparent Leydig-cell autonomy and elevated glycoprotein hormone alpha subunit. 56
6205273 1984
24
Testicular leydig cell hyperplasia as a cause of familial sexual precocity. 56
6780588 1981
25
Treatment of familial male-limited precocious puberty (testotoxicosis) with anastrozole and bicalutamide in a boy with a novel mutation in the luteinizing hormone receptor. 54 61
20333877 2009
26
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. 54 61
16887451 2006
27
Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation. 61
31394950 2020
28
TESTOTOXICOSIS WITH AN EPISODIC COURSE: AN UNUSUAL CASE WITHIN A SERIES. 61
31967000 2019
29
Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring. 61
29858851 2018
30
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels. 61
29538680 2018
31
Germ Cell Neoplasia in Situ and Preserved Fertility Despite Suppressed Gonadotropins in a Patient With Testotoxicosis. 61
29029242 2017
32
Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis. 61
27532428 2017
33
Dopa-testotoxicosis: disruptive hypersexuality in hypogonadal men with prolactinomas treated with dopamine agonists. 61
27601019 2017
34
Reply; Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. 61
26757946 2016
35
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation. 61
26680572 2016
36
Letter to the Editor regarding "Testotoxicosis: Report of Two Cases, One with a Novel Mutation in Luteinizing Hormone/Choriogonadotropin Receptor Gene". 61
26777051 2015
37
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. 61
26831561 2015
38
Mixed germ cell tumour after testotoxicosis. 61
24467671 2014
39
Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis. 61
24790387 2014
40
Behavioral aggressiveness in boys with sexual precocity. 61
22629506 2012
41
[Peripheral precocious puberty: clinical, diagnostic and therapeutical principles]. 61
22119235 2012
42
Aromatase inhibitors in pediatrics. 61
22024975 2011
43
Strategies for maximizing growth in puberty in children with short stature. 61
21981954 2011
44
Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene. 61
21490077 2011
45
Bicalutamide plus anastrozole for the treatment of gonadotropin-independent precocious puberty in boys with testotoxicosis: a phase II, open-label pilot study (BATT). 61
21158211 2010
46
Bicalutamide and third-generation aromatase inhibitors in testotoxicosis. 61
20713483 2010
47
Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty. 61
21060208 2010
48
[Peripheral precocious puberty]. 61
20041371 2009
49
Strategies for maximizing growth in puberty in children with short stature. 61
19717007 2009
50
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis. 61
19492585 2009

Variations for Precocious Puberty, Male-Limited

ClinVar genetic disease variations for Precocious Puberty, Male-Limited:

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LHCGR NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val)SNV Pathogenic 14397 rs121912528 2:48915818-48915818 2:48688679-48688679
2 LHCGR NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu)SNV Pathogenic 14402 rs121912531 2:48915312-48915312 2:48688173-48688173
3 LHCGR NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro)SNV Pathogenic 14406 rs121912533 2:48915833-48915833 2:48688694-48688694
4 LHCGR NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val)SNV Pathogenic 14407 rs121912534 2:48915233-48915233 2:48688094-48688094
5 LHCGR NM_000233.4(LHCGR):c.1370T>G (p.Leu457Arg)SNV Pathogenic 14408 rs121912535 2:48915566-48915566 2:48688427-48688427
6 LHCGR NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly)SNV Pathogenic 14412 rs121912540 2:48915245-48915245 2:48688106-48688106
7 LHCGR NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)SNV Pathogenic 14384 rs121912518 2:48915203-48915203 2:48688064-48688064
8 LHCGR NM_000233.4(LHCGR):c.1713G>A (p.Met571Ile)SNV Pathogenic 14385 rs121912519 2:48915223-48915223 2:48688084-48688084
9 LHCGR NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile)SNV Pathogenic 14389 rs121912521 2:48915206-48915206 2:48688067-48688067
10 LHCGR NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val)SNV Pathogenic 14390 rs121912522 2:48915221-48915221 2:48688082-48688082
11 LHCGR NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)SNV Pathogenic/Likely pathogenic 14394 rs121912526 2:48915743-48915743 2:48688604-48688604
12 LHCGR NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr)SNV Likely pathogenic 36468 rs121912532 2:48915204-48915204 2:48688065-48688065
13 LHCGR NM_000233.4(LHCGR):c.458+3A>GSNV Conflicting interpretations of pathogenicity 36469 rs76210637 2:48950758-48950758 2:48723619-48723619
14 LHCGR NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile)SNV Conflicting interpretations of pathogenicity 336461 rs114320052 2:48915576-48915576 2:48688437-48688437
15 LHCGR NM_000233.4(LHCGR):c.384-15T>CSNV Uncertain significance 336467 rs753540458 2:48950850-48950850 2:48723711-48723711
16 LHCGR NM_000233.4(LHCGR):c.*724T>CSNV Uncertain significance 336445 rs886056145 2:48914112-48914112 2:48686973-48686973
17 LHCGR NM_000233.4(LHCGR):c.*273T>CSNV Uncertain significance 336453 rs886056146 2:48914563-48914563 2:48687424-48687424
18 LHCGR NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr)SNV Uncertain significance 336463 rs886056147 2:48925809-48925809 2:48698670-48698670
19 LHCGR NM_000233.4(LHCGR):c.605+52deldeletion Uncertain significance 36470 rs111834744 2:48941073-48941073 2:48713934-48713934
20 LHCGR NM_000233.4(LHCGR):c.*383C>ASNV Uncertain significance 336449 rs777978092 2:48914453-48914453 2:48687314-48687314
21 LHCGR NM_000233.4(LHCGR):c.54G>A (p.Gln18=)SNV Uncertain significance 336472 rs780848944 2:48982757-48982757 2:48755618-48755618
22 LHCGR NM_000233.4(LHCGR):c.*300T>ASNV Uncertain significance 336451 rs771456886 2:48914536-48914536 2:48687397-48687397
23 LHCGR NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys)SNV Likely benign 336460 rs146785679 2:48915267-48915267 2:48688128-48688128
24 LHCGR NM_000233.4(LHCGR):c.81G>A (p.Glu27=)SNV Likely benign 336470 rs527550554 2:48982730-48982730 2:48755591-48755591
25 LHCGR NM_000233.4(LHCGR):c.*535G>ASNV Likely benign 336447 rs534109670 2:48914301-48914301 2:48687162-48687162
26 LHCGR NM_000233.4(LHCGR):c.378A>C (p.Lys126Asn)SNV Likely benign 336468 rs373456950 2:48952820-48952820 2:48725681-48725681
27 LHCGR NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn)SNV Likely benign 336469 rs140691492 2:48952861-48952861 2:48725722-48725722
28 LHCGR NM_000233.4(LHCGR):c.*281deldeletion Likely benign 336452 rs558291070 2:48914555-48914555 2:48687416-48687416
29 LHCGR NM_000233.4(LHCGR):c.*131C>TSNV Likely benign 336456 rs73928204 2:48914705-48914705 2:48687566-48687566
30 LHCGR NM_000233.4(LHCGR):c.*7C>TSNV Likely benign 336457 rs200256443 2:48914829-48914829 2:48687690-48687690
31 LHCGR NM_000233.4(LHCGR):c.2002A>C (p.Thr668Pro)SNV Likely benign 336458 rs199807908 2:48914934-48914934 2:48687795-48687795
32 LHCGR NM_000233.4(LHCGR):c.*577T>ASNV Likely benign 336446 rs542577446 2:48914259-48914259 2:48687120-48687120
33 LHCGR NM_000233.4(LHCGR):c.430G>A (p.Val144Ile)SNV Likely benign 336466 rs121912539 2:48950789-48950789 2:48723650-48723650
34 LHCGR NM_000233.4(LHCGR):c.1875A>T (p.Ile625=)SNV Likely benign 336459 rs200691173 2:48915061-48915061 2:48687922-48687922
35 LHCGR NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser)SNV Benign/Likely benign 336462 rs61996314 2:48915926-48915926 2:48688787-48688787
36 LHCGR NM_000233.4(LHCGR):c.606-5C>TSNV Benign/Likely benign 336465 rs78135094 2:48936166-48936166 2:48709027-48709027
37 LHCGR NM_000233.4(LHCGR):c.610C>T (p.Leu204=)SNV Benign/Likely benign 336464 rs61996322 2:48936157-48936157 2:48709018-48709018
38 LHCGR NM_001198593.1(STON1-GTF2A1L):c.3442-20551C>ASNV Benign 336473 rs10176989 2:48982868-48982868 2:48755729-48755729
39 LHCGR NM_000233.4(LHCGR):c.*528T>CSNV Benign 336448 rs73928203 2:48914308-48914308 2:48687169-48687169
40 LHCGR NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup)duplication Benign 336471 rs71245621 2:48982755-48982756 2:48755616-48755617
41 LHCGR NM_000233.4(LHCGR):c.*221G>CSNV Benign 336454 rs62137532 2:48914615-48914615 2:48687476-48687476
42 LHCGR NM_000233.4(LHCGR):c.*360G>ASNV Benign 336450 rs10495956 2:48914476-48914476 2:48687337-48687337
43 LHCGR NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser)SNV Benign 138116 rs12470652 2:48921438-48921438 2:48694299-48694299
44 LHCGR NM_000233.4(LHCGR):c.1065T>C (p.Asp355=)SNV Benign 255607 rs11125179 2:48915871-48915871 2:48688732-48688732
45 LHCGR NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser)SNV Benign 255609 rs2293275 2:48921375-48921375 2:48694236-48694236
46 LHCGR NM_000233.4(LHCGR):c.866+8G>ASNV Benign 255608 rs6755901 2:48925746-48925746 2:48698607-48698607
47 LHCGR NM_000233.4(LHCGR):c.*148T>CSNV Benign 336455 rs79248442 2:48914688-48914688 2:48687549-48687549

UniProtKB/Swiss-Prot genetic disease variations for Precocious Puberty, Male-Limited:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 LHCGR p.Ala373Val VAR_003553 rs121912528
2 LHCGR p.Met398Thr VAR_003554 rs121912526
3 LHCGR p.Ala568Val VAR_003555 rs121912534
4 LHCGR p.Met571Ile VAR_003556 rs121912519
5 LHCGR p.Ala572Val VAR_003557 rs121912522
6 LHCGR p.Thr577Ile VAR_003558 rs121912521
7 LHCGR p.Asp578Gly VAR_003559 rs121912518
8 LHCGR p.Leu457Arg VAR_010156 rs121912535
9 LHCGR p.Ile542Leu VAR_010157 rs121912531
10 LHCGR p.Asp564Gly VAR_010159 rs121912540
11 LHCGR p.Ile575Leu VAR_010160
12 LHCGR p.Asp578Glu VAR_010161
13 LHCGR p.Asp578Tyr VAR_010163 rs121912532
14 LHCGR p.Cys581Arg VAR_010164
15 LHCGR p.Leu368Pro VAR_062338 rs121912533

Expression for Precocious Puberty, Male-Limited

Search GEO for disease gene expression data for Precocious Puberty, Male-Limited.

Pathways for Precocious Puberty, Male-Limited

Pathways related to Precocious Puberty, Male-Limited according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Prolactin signaling pathway hsa04917

Pathways related to Precocious Puberty, Male-Limited according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.7 LHCGR FSHR
2 11.49 LHCGR FSHR
3 10.82 LHCGR FSHR CYP19A1
4 10.69 FSHR CYP19A1
5 10.3 LHCGR FSHR CYP19A1
6 10.27 LHCGR FSHR

GO Terms for Precocious Puberty, Male-Limited

Biological processes related to Precocious Puberty, Male-Limited according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.43 LHCGR FSHR
2 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.4 LHCGR FSHR
3 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.37 LHCGR FSHR
4 hormone-mediated signaling pathway GO:0009755 9.32 LHCGR FSHR
5 activation of adenylate cyclase activity GO:0007190 9.26 LHCGR FSHR
6 female gonad development GO:0008585 9.16 FSHR CYP19A1
7 uterus development GO:0060065 8.96 FSHR CYP19A1
8 ovulation cycle process GO:0022602 8.62 LHCGR FSHR

Molecular functions related to Precocious Puberty, Male-Limited according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled peptide receptor activity GO:0008528 8.96 LHCGR FSHR
2 protein-hormone receptor activity GO:0016500 8.62 LHCGR FSHR

Sources for Precocious Puberty, Male-Limited

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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