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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial male-limited precocious puberty

SLC34A1 LHCGR
SLC9A3R1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC9A3R1
(0.52)
LHCGR



Citations in the biomedical literature:


Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SLC34A1 SLC9A3R1
Familial male-limited precocious puberty
LHCGR



Dominant hypophosphatemia with nephrolithiasis or osteoporosis
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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare endocrine disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
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

Familial male-limited precocious puberty

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


Dominant hypophosphatemia with nephrolithiasis or osteoporosis

(no data available)