Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.(428+1_967-1)_(*1_?)del homozygous deletion that included, at least, the exons 9 and 10 of the LIPA gene || . A six months old male patient with respiratory insufficiency and sepsis, abdominal distension, severe hepatosplenomegaly, diarrhea, and severe growth retardation, c.358A > C (pSer120Arg) inherited from the mother and of the known variant c.428 + 1G > T, inherited from the father
| Title : Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis - Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| Author(s) : Baronio F , Conti F , Miniaci A , Carfagnini F , Di Natale V , Di Donato G , Testi M , Totaro C , De Fanti A , Boenzi S , Dionisi-Vici C , Esposito S , Pession A |
| Ref : Mol Genet Metab Rep , 30 :100833 , 2022 |
| Abstract : Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| ESTHER : Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| PubMedSearch : Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| PubMedID: 35242567 |
| Gene_locus related to this paper: human-LIPA |
| Title : Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review - Alabbas_2021_BMC.Pediatr_21_72 |
| Author(s) : Alabbas F , Elyamany G , Alanzi T , Ali TB , Albatniji F , Alfaraidi H |
| Ref : BMC Pediatr , 21 :72 , 2021 |
| Abstract : Alabbas_2021_BMC.Pediatr_21_72 |
| ESTHER : Alabbas_2021_BMC.Pediatr_21_72 |
| PubMedSearch : Alabbas_2021_BMC.Pediatr_21_72 |
| PubMedID: 33568092 |
| Gene_locus related to this paper: human-LIPA |