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X-linked congenital hemolytic anemia(HACXL)

MedGen UID:
1648376
Concept ID:
C4746970
Disease or Syndrome
Synonym: HACXL
 
Gene (location): ATP11C (Xq27.1)
 
Monarch Initiative: MONDO:0060455
OMIM®: 301015

Clinical features

From HPO
Dark urine
MedGen UID:
604849
Concept ID:
C0426396
Finding
An abnormal dark color of the urine.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).

Professional guidelines

PubMed

León NY, Harley VR
Hum Genet 2021 Dec;140(12):1625-1634. Epub 2021 Sep 15 doi: 10.1007/s00439-021-02361-5. PMID: 34524523
Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS; ACMG Professional Practice and Guidelines Committee
Genet Med 2021 Oct;23(10):1793-1806. Epub 2021 Jul 20 doi: 10.1038/s41436-021-01203-z. PMID: 34285390Free PMC Article
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Recent clinical studies

Etiology

Israel A, Schäffer AA, Berkovitch M, Ozeri DJ, Merzon E, Green I, Golan-Cohen A, Ruppin E, Vinker S, Magen E
Front Immunol 2023;14:1232560. Epub 2023 Sep 11 doi: 10.3389/fimmu.2023.1232560. PMID: 37753082Free PMC Article
Mierlo PV, Braakman H, Vandenbussche N, Schelhaas HJ, Pillen S
Neuropediatrics 2022 Apr;53(2):109-114. Epub 2021 Dec 21 doi: 10.1055/s-0041-1740551. PMID: 34933379
Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS; ACMG Professional Practice and Guidelines Committee
Genet Med 2021 Oct;23(10):1793-1806. Epub 2021 Jul 20 doi: 10.1038/s41436-021-01203-z. PMID: 34285390Free PMC Article
Ryan K, Tekwani BL
Pharmacol Ther 2021 Jun;222:107788. Epub 2020 Dec 14 doi: 10.1016/j.pharmthera.2020.107788. PMID: 33326820Free PMC Article
Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J
Prenat Diagn 2020 Feb;40(3):301-310. Epub 2019 Nov 29 doi: 10.1002/pd.5611. PMID: 31774570

Diagnosis

Belfield KD, Tichy EM
Am J Health Syst Pharm 2018 Feb 1;75(3):97-104. Epub 2018 Jan 5 doi: 10.2146/ajhp160961. PMID: 29305344
Luzzatto L, Nannelli C, Notaro R
Hematol Oncol Clin North Am 2016 Apr;30(2):373-93. doi: 10.1016/j.hoc.2015.11.006. PMID: 27040960
des Portes V
Handb Clin Neurol 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. PMID: 23622180
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031
Bernini LF, Harteveld CL
Baillieres Clin Haematol 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. PMID: 10872473

Therapy

Ryan K, Tekwani BL
Pharmacol Ther 2021 Jun;222:107788. Epub 2020 Dec 14 doi: 10.1016/j.pharmthera.2020.107788. PMID: 33326820Free PMC Article
Recht J, Ashley EA, White NJ
PLoS Negl Trop Dis 2018 Apr;12(4):e0006230. Epub 2018 Apr 19 doi: 10.1371/journal.pntd.0006230. PMID: 29672516Free PMC Article
Belfield KD, Tichy EM
Am J Health Syst Pharm 2018 Feb 1;75(3):97-104. Epub 2018 Jan 5 doi: 10.2146/ajhp160961. PMID: 29305344
De La Fuente R, Baumann C, Viveiros MM
Reproduction 2011 Aug;142(2):221-34. Epub 2011 Jun 8 doi: 10.1530/REP-10-0380. PMID: 21653732Free PMC Article
Tiberio G
Acta Genet Med Gemellol (Roma) 1994;43(3-4):207-14. doi: 10.1017/s0001566000001963. PMID: 8588495

Prognosis

Falcinelli M, Dell'Omo G, Grassi E, Mariella E, Leto SM, Scardellato S, Lorenzato A, Arena S, Bertotti A, Trusolino L, Bardelli A, d'Adda di Fagagna F
Cell Death Dis 2023 Feb 9;14(2):96. doi: 10.1038/s41419-023-05640-3. PMID: 36759506Free PMC Article
Heaphy CM, Singhi AD
Hum Pathol 2023 Feb;132:1-11. Epub 2023 Jan 24 doi: 10.1016/j.humpath.2023.01.004. PMID: 36702689Free PMC Article
Recht J, Ashley EA, White NJ
PLoS Negl Trop Dis 2018 Apr;12(4):e0006230. Epub 2018 Apr 19 doi: 10.1371/journal.pntd.0006230. PMID: 29672516Free PMC Article
Gibbons R
Orphanet J Rare Dis 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. PMID: 16722615Free PMC Article
Quak SH, Saha N, Tay JS
Ann Acad Med Singap 1996 Jan;25(1):45-8. PMID: 8779546

Clinical prediction guides

Israel A, Schäffer AA, Berkovitch M, Ozeri DJ, Merzon E, Green I, Golan-Cohen A, Ruppin E, Vinker S, Magen E
Front Immunol 2023;14:1232560. Epub 2023 Sep 11 doi: 10.3389/fimmu.2023.1232560. PMID: 37753082Free PMC Article
Falcinelli M, Dell'Omo G, Grassi E, Mariella E, Leto SM, Scardellato S, Lorenzato A, Arena S, Bertotti A, Trusolino L, Bardelli A, d'Adda di Fagagna F
Cell Death Dis 2023 Feb 9;14(2):96. doi: 10.1038/s41419-023-05640-3. PMID: 36759506Free PMC Article
Morris SA, Crews KR, Hayden RT, Takemoto CM, Yang W, Baker DK, Broeckel U, Relling MV, Haidar CE
Pharmacogenet Genomics 2022 Apr 1;32(3):87-93. doi: 10.1097/FPC.0000000000000456. PMID: 34693927Free PMC Article
Gibbons R
Orphanet J Rare Dis 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. PMID: 16722615Free PMC Article
Bernini LF, Harteveld CL
Baillieres Clin Haematol 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. PMID: 10872473

Recent systematic reviews

León NY, Harley VR
Hum Genet 2021 Dec;140(12):1625-1634. Epub 2021 Sep 15 doi: 10.1007/s00439-021-02361-5. PMID: 34524523
Mbanefo EC, Ahmed AM, Titouna A, Elmaraezy A, Trang NT, Phuoc Long N, Hoang Anh N, Diem Nghi T, The Hung B, Van Hieu M, Ky Anh N, Huy NT, Hirayama K
Sci Rep 2017 Apr 6;7:45963. doi: 10.1038/srep45963. PMID: 28382932Free PMC Article

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