Mendelian Diseases
Multifactorial Diseases
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

Lipodystrophy, congenital generalized, type 1

OMIM:608594
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolAGPAT2
Reference transcriptNM_006412.3
DNA Changec.202C>T
A.A. Changep.Arg68X
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceMagre J, Delepine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M.Prevalence of mutations in AGPAT2 among human lipodystrophies.
Diabetes. 2003 Jun;52(6):1573-8.
Gene SymbolAGPAT2
Reference transcriptNM_006412.3
DNA Changec.194G>A
A.A. Changep.Trp65X
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceMagre J, Delepine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M.Prevalence of mutations in AGPAT2 among human lipodystrophies.
Diabetes. 2003 Jun;52(6):1573-8.