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2 OMIM references -
6 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Athyreosis
Familial male-limited precocious puberty

FOXE1 LHCGR
NKX2-1
NKX2-5
PAX8
SLC26A4
TSHR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSHR
(0.52)
LHCGR



Citations in the biomedical literature:


Athyreosis
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR

Familial male-limited precocious puberty
LHCGR



Athyreosis
Familial male-limited precocious puberty

Synonym(s):
(no synonyms)

Synonym(s):
- FMPP
- Familial gonadotropin-independent male-limited sexual precocity
- Male-limited precocious puberty
- Testotoxicosis

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536961

Athyreosis
Familial male-limited precocious puberty

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Muscle weakness / flaccidity
- Sleep and vigilance disorders

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism



Very frequent
- Advanced bone age
- Autosomal dominant inheritance
- Precocious puberty
- Sterility / hypofertility
- Tall stature / gigantism / growth acceleration

Frequent
- Acne / acnea
- Hair and scalp anomalies
- Macropenis / megapenis / large penis

Occasional
- Azoospermia / oligospermia / asthenospermia
- Hyperactivity / attention deficit
- Macroorchidism / macrotestes
- Psychic / behavioural troubles