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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

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
Elella SA, Tawfik M, Barseem N, Moustafa W
Ann Saudi Med 2017 Sep-Oct;37(5):362-365. doi: 10.5144/0256-4947.2017.362. PMID: 28988250Free PMC Article
Alli NA
Hematology 2005 Oct;10(5):413-8. doi: 10.1080/10245330500141689. PMID: 16273735
Robbins JB, Skinner RG, Pearson HA
N Engl J Med 1969 Jan 9;280(2):75-9. doi: 10.1056/NEJM196901092800205. PMID: 4972924
Kerr CB
Bibl Haematol 1968;29:59-70. doi: 10.1159/000384594. PMID: 5303926

Diagnosis

Aiello S, Mancardi MM, Romano A, Santucci M, Scaduto MC, Vari MS, Striano P, Operto FF, Elia M, Vitiello G, Del Giudice E, Terrone G
Eur J Paediatr Neurol 2022 Sep;40:69-72. Epub 2022 Aug 18 doi: 10.1016/j.ejpn.2022.08.002. PMID: 36031702
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

Therapy

Aung JM, Moon Z, VanBik D, Dinzouna-Boutamba SD, Lee S, Ring Z, Chung DI, Hong Y, Goo YK
Parasites Hosts Dis 2023 May;61(2):154-162. Epub 2023 May 23 doi: 10.3347/PHD.23004. PMID: 37258262Free 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
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
Persons DA
Hematology Am Soc Hematol Educ Program 2009:690-7. doi: 10.1182/asheducation-2009.1.690. PMID: 20008255
Robbins JB, Skinner RG, Pearson HA
N Engl J Med 1969 Jan 9;280(2):75-9. doi: 10.1056/NEJM196901092800205. PMID: 4972924

Prognosis

Malgulwar PB, Danussi C, Dharmaiah S, Johnson W, Singh A, Rai K, Rao A, Huse JT
Neuro Oncol 2024 Jan 5;26(1):55-67. doi: 10.1093/neuonc/noad155. PMID: 37625115Free 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
Mallik N, Singh N, Jamwal M, Chhabra S, Hira JK, Malhotra P, Das R, Sharma P
Cancer Genet 2022 Jan;260-261:53-56. Epub 2021 Jul 20 doi: 10.1016/j.cancergen.2021.07.001. PMID: 34330696
Hackeng WM, Brosens LAA, Kim JY, O'Sullivan R, Sung YN, Liu TC, Cao D, Heayn M, Brosnan-Cashman J, An S, Morsink FHM, Heidsma CM, Valk GD, Vriens MR, Nieveen van Dijkum E, Offerhaus GJA, Dreijerink KMA, Zeh H, Zureikat AH, Hogg M, Lee K, Geller D, Marsh JW, Paniccia A, Ongchin M, Pingpank JF, Bahary N, Aijazi M, Brand R, Chennat J, Das R, Fasanella KE, Khalid A, McGrath K, Sarkaria S, Singh H, Slivka A, Nalesnik M, Han X, Nikiforova MN, Lawlor RT, Mafficini A, Rusev B, Corbo V, Luchini C, Bersani S, Pea A, Cingarlini S, Landoni L, Salvia R, Milione M, Milella M, Scarpa A, Hong SM, Heaphy CM, Singhi AD
Gut 2022 May;71(5):961-973. Epub 2021 Apr 13 doi: 10.1136/gutjnl-2020-322595. PMID: 33849943Free 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

Clinical prediction guides

Sarkar A, Rohilla M, Kumari S
J Obstet Gynaecol 2022 Jul;42(5):747-750. Epub 2022 Jan 24 doi: 10.1080/01443615.2021.2024157. PMID: 35068323
Alaithan MA, AbdulAzeez S, Borgio JF
Saudi Med J 2018 Apr;39(4):329-335. doi: 10.15537/smj.2018.4.21360. PMID: 29619482Free PMC Article
Huh MS, Price O'Dea T, Ouazia D, McKay BC, Parise G, Parks RJ, Rudnicki MA, Picketts DJ
J Clin Invest 2012 Dec;122(12):4412-23. Epub 2012 Nov 1 doi: 10.1172/JCI63765. PMID: 23114596Free PMC Article
Gibbons RJ
Cold Spring Harb Perspect Med 2012 Oct 1;2(10) doi: 10.1101/cshperspect.a011759. PMID: 23028133Free 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

Iyer NS, Mossayebi MH, Gao TJ, Haizler-Cohen L, Di Mascio D, McLaren RA Jr, Al-Kouatly HB
Mol Genet Genomic Med 2024 Jul;12(7):e2491. doi: 10.1002/mgg3.2491. PMID: 39041728Free PMC Article
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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