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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Leydig cell hypoplasia due to partial LH resistance

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
Leydig cell hypoplasia due to partial LH resistance
LHCGR



Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Leydig cell hypoplasia due to partial LH resistance

Synonym(s):
(no synonyms)

Synonym(s):
- 46,XY DSD due to partial LH receptor inactivation
- 46,XY DSD due to partial LH resistance
- 46,XY DSD due to partial luteinizing hormone resistance
- 46,XY disorder of sex developement due to partial LH receptor inactivation
- 46,XY disorder of sex developement due to partial LH resistance
- 46,XY disorder of sex developement due to partial luteinizing hormone resistance
- Leydig cell hypoplasia due to partial LH receptor inactivation
- Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
- Leydig cell hypoplasia due to partial luteinizing hormone resistance

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

No signs/symptoms info available.