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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hemolytic anemia
MedGen UID:
1916
•Concept ID:
C0002878
•
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

ATR-X syndrome: genetics, clinical spectrum, and management.
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
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
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
Diagnosis and management of G6PD deficiency.
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Recent clinical studies

Etiology

ATR-X syndrome: genetics, clinical spectrum, and management.
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
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
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
Current investigations on clinical pharmacology and therapeutics of Glucose-6-phosphate dehydrogenase deficiency.
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
International perspectives on the implementation of reproductive carrier screening.
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
Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States?
Watchko JF, Kaplan M, Stark AR, Stevenson DK, Bhutani VK
J Perinatol 2013 Jul;33(7):499-504. Epub 2013 Feb 21 doi: 10.1038/jp.2013.14. PMID: 23429543

Diagnosis

Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.
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
Glucose-6-Phosphate Dehydrogenase Deficiency.
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
X-linked mental deficiency.
des Portes V
Handb Clin Neurol 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. PMID: 23622180
Diagnosis and management of G6PD deficiency.
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031
Alpha-thalassaemia.
Bernini LF, Harteveld CL
Baillieres Clin Haematol 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. PMID: 10872473

Therapy

Current investigations on clinical pharmacology and therapeutics of Glucose-6-phosphate dehydrogenase deficiency.
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
Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.
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
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
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
X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malaria.
Guindo A, Fairhurst RM, Doumbo OK, Wellems TE, Diallo DA
PLoS Med 2007 Mar;4(3):e66. doi: 10.1371/journal.pmed.0040066. PMID: 17355169Free PMC Article
MZ female twins discordant for X-linked diseases: a review.
Tiberio G
Acta Genet Med Gemellol (Roma) 1994;43(3-4):207-14. doi: 10.1017/s0001566000001963. PMID: 8588495

Prognosis

Reprint of: The Diagnostic and Prognostic Utility of Incorporating DAXX, ATRX, and Alternative Lengthening of Telomeres (ALT) to the Evaluation of Pancreatic Neuroendocrine Tumors (PanNETs).
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
Non-functional pancreatic neuroendocrine tumours: ATRX/DAXX and alternative lengthening of telomeres (ALT) are prognostically independent from ARX/PDX1 expression and tumour size.
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
Use of primaquine and glucose-6-phosphate dehydrogenase deficiency testing: Divergent policies and practices in malaria endemic countries.
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
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N
Gene 2017 Mar 30;606:47-52. Epub 2017 Jan 9 doi: 10.1016/j.gene.2017.01.001. PMID: 28089922
Alpha thalassaemia-mental retardation, X linked.
Gibbons R
Orphanet J Rare Dis 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. PMID: 16722615Free PMC Article

Clinical prediction guides

Glucose-6-phosphate dehydrogenase deficiency and long-term risk of immune-related disorders.
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
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N
Gene 2017 Mar 30;606:47-52. Epub 2017 Jan 9 doi: 10.1016/j.gene.2017.01.001. PMID: 28089922
Alpha thalassaemia-mental retardation, X linked.
Gibbons R
Orphanet J Rare Dis 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. PMID: 16722615Free PMC Article
Alpha-thalassaemia.
Bernini LF, Harteveld CL
Baillieres Clin Haematol 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. PMID: 10872473
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR
Am J Hum Genet 1992 Nov;51(5):1136-49. PMID: 1415255Free PMC Article

Recent systematic reviews

Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.
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
ATR-X syndrome: genetics, clinical spectrum, and management.
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
Association of glucose-6-phosphate dehydrogenase deficiency and malaria: a systematic review and meta-analysis.
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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      Related information in NCBI Gene
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      Related information in GTR
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      Clinical tests in GTR
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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