Phenotype: Achalasia-addisonianism-alacrimia syndrome


OMIM: 231550
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

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AAAS || c.1331+1G> A (c.IVS14+1G>A)

Gene/Locus:    AAAS
Dna Change:    c.1331+1G> A (c.IVS14+1G>A)
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    Intron 14
Transcript:    NM_015665.5

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANANAmore than 2400 years agoTullio-Pelet A et al., 2000Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S, . Mutant WD-repeat protein in triple-A syndrome.. Nat. Genet.. 2000; 26(3):332-5
TunisiaNANA1 patientNACherif Ben Abdallah L et al., 2014Cherif Ben Abdallah L, Lakhoua Y, Nagara M, Khiari K, Elouej S, Messaoud O, Bouyacoub Y, Romdhane L, Turki Z, Abdelhak S, Ben Abdallah N, . A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism.. Horm Res Paediatr. 2014; 0(0):

References

Cherif Ben Abdallah L, Lakhoua Y, Nagara M, Khiari K, Elouej S, Messaoud O, Bouyacoub Y, Romdhane L, Turki Z, Abdelhak S, Ben Abdallah N, A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism.Horm Res Paediatr. 2014; 0(0):

Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S, Mutant WD-repeat protein in triple-A syndrome.Nat. Genet.. 2000; 26(3):332-5