ODCs

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Dominant hypophosphatemia with nephrolithiasis or osteoporosis

2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Leydig cell hypoplasia due to complete LH resistance

1 OMIM reference -
1 associated gene
No signs/symptoms info

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Leydig cell hypoplasia due to complete LH resistance

SLC34A1	(UniProt - OMIM)		LHCGR	(UniProt - OMIM)
SLC9A3R1	(UniProt - OMIM)


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		Leydig cell hypoplasia due to complete LH resistance
	Synonym(s): (no synonyms)		Synonym(s): - 46,XY DSD due to complete LH receptor inactivation - 46,XY DSD due to complete LH resistance - 46,XY DSD due to complete luteinizing hormone receptor inactivation - 46,XY DSD due to complete luteinizing hormone resistance - 46,XY disorder of sex development due to complete LH receptor inactivation - 46,XY disorder of sex development due to complete LH resistance - 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation - 46,XY disorder of sex development due to complete luteinizing hormone resistance - Leydig cel hypoplasia due to complete LH receptor inactivation - Leydig cel hypoplasia due to complete luteinizing hormone receptor inactivation - Leydig cel hypoplasia due to complete 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.