Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Leydig cell hypoplasia, type I

OMIM:238320
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolLHCGR
Reference transcriptNM_000233.3
DNA Changec.907C>T
A.A. Changep.Gln303X
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceAthanasoulia AP, Stalla GK, Auer MK. Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia.
Hormones (Athens). 2014 Jul-Sep;13(3):424-9.

Gene SymbolLHCGR
Reference transcriptNM_000233.3
DNA Changec.935A>G
A.A. Changep.Asn312Ser
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceAthanasoulia AP, Stalla GK, Auer MK. Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia.
Hormones (Athens). 2014 Jul-Sep;13(3):424-9.