ORPHA:3000
Familial peripheral male-limited precocious puberty
Synonyms: FMPP · Familial gonadotropin-independent male-limited sexual precocity · Male-limited precocious puberty · Testotoxicosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial peripheral male-limited precocious puberty | FMPP · Familial gonadotropin-independent male-limited sexual precocity · Male-limited precocious puberty · Testotoxicosis |
| fr | Puberté périphérique précoce familiale limitée aux garçons | FMPP · Puberté précoce indépendante des gonadotropines chez le garçon · Puberté précoce limitée aux garçons · Testotoxicose |
| de | Vorzeitige männliche Pubertät, familiäre Form | FMPP · Familiäre gonadotropin-unabhängige männlich-limitierte Pubertas praecox · Pubertas praecox bei Knaben · Testotoxikose |
| es | Pubertad precoz familiar limitada al varón | FMPP · Pubertad precoz familiar independiente de gonadotropinas limitada al varón · Pubertad precoz limitada al varón · Testotoxicosis |
| it | Pubertà precoce familiare limitata ai maschi | FMPP · Precocità sessuale familiare indipendente dalle gonadotropine limitata ai maschi · Pubertà precoce limitata ai maschi · Testotossicosi |
| nl | Familiale vroegtijdige puberteit beperkt tot mannen | FMPP · Familiale gonadotrofine-onafhankelijke pubertas praecox beperkt tot mannen · Testotoxicose · Vroegtijdige puberteit beperkt tot mannen |
| pt | Puberdade precoce familiar limitada ao sexo masculino | Puberdade precoce limitada ao sexo masculino · Testotoxicose · Puberdade precoce familiar independente da gonadotrofina limitada ao sexo masculino |
| pl | Rodzinne męskie przedwczesne dojrzewanie płciowe | FMPP · Męskie przedwczesne dojrzewanie płciowe · Rodzinne męskie przedwczesne dojrzewanie płciowe niezależne od gonadotropin · Testotoksykoza |
| cs | Familiární mužská předčasná puberta | FMPP · Testotoxikóza · Familiární mužská testotoxikóza · Familiární mužská předčasná puberta závislá na gonadotropinu · Mužská předčasná puberta |
| uk | Сімейне периферичне передчасне статеве дозрівання, обмежене чоловічою статтю | Сімейний гонадотропін-незалежний чоловічий синдром передчасного статевого дозрівання · FMPP · Передчасне статеве дозрівання, обмежене чоловічою статтю · Тестотоксикоз |
| zh | 家族性男性性早熟 | 家族性促性腺激素非依赖性男性性早熟 |
| tr | Ailesel erkek cinsiyetle sınırlı erken ergenlik | FMPP · Testotoksikoz · Erkeklerle sınırlı erken ergenlik · Ailesel gonadotropin bağımsız, erkek sınırlı cinsel erken gelişmişlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176410 | E | validated | |
| ICD-10 | E30.1 | NTBT | attributed | validated |
| ICD-11 | 5A81.0 | NTBT | index | validated |
| MeSH | C536961 | E | validated | |
| UMLS | C0342549 | E | validated | |
| GARD | 4475 | E | validated | |
| MedDRA | 10063654 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:178040Rare peripheral precocious puberty
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LHCGR | Disease-causing germline mutation(s) in | Assessed | HGNC:6585 | ENSG00000138039 | 152790 | 2p16.3 | luteinizing hormone/choriogonadotropin receptor |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0003251 | Male infertility | |
| HP:0000826 | Precocious puberty | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0001061 | Acne | |
| HP:0000040 | Long penis | |
| Occasional (29-5%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000053 | Macroorchidism | |
| HP:0000798 | Oligozoospermia | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3000
- This record as JSON: /data/d/3000.json