U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Y-linked disease

MedGen UID:
289655
•Concept ID:
C1563751
•
Disease or Syndrome
Synonyms: Disease, Y-Linked Genetic; Diseases, Y-Linked Genetic; Genetic Disease, Y-Linked; Genetic Diseases, Y Chromosome Linked; Genetic Diseases, Y Linked; Genetic Diseases, Y-Chromosome Linked; Genetic Diseases, Y-Linked; Y Linked Genetic Diseases; Y-Linked Genetic Disease; Y-Linked Genetic Diseases
 
Monarch Initiative: MONDO:0000428

Definition

Y-linked form of disease. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVY-linked disease

Professional guidelines

PubMed

Zevalin(®) (ibritumomab tiuxetan): After more than a decade of treatment experience, what have we learned?
Rizzieri D
Crit Rev Oncol Hematol 2016 Sep;105:5-17. Epub 2016 Jul 16 doi: 10.1016/j.critrevonc.2016.07.008. PMID: 27497027

Recent clinical studies

Etiology

Disruption of the Uty epigenetic regulator locus in hematopoietic cells phenocopies the profibrotic attributes of Y chromosome loss in heart failure.
Horitani K, Chavkin NW, Arai Y, Wang Y, Ogawa H, Yura Y, Evans MA, Cochran JD, Thel MC, Polizio AH, Sano M, Miura-Yura E, Arai Y, Doviak H, Arnold AP, Gelfand BD, Hirschi KK, Sano S, Walsh K
Nat Cardiovasc Res 2024 Mar;3(3):343-355. Epub 2024 Mar 8 doi: 10.1038/s44161-024-00441-z. PMID: 39183958Free PMC Article
PGD gender selection for non-Mendelian disorders with unequal sex incidence.
Amor DJ, Cameron C
Hum Reprod 2008 Apr;23(4):729-34. Epub 2008 Jan 24 doi: 10.1093/humrep/dem433. PMID: 18222917
Discrepancies in the laws on identifying foetal sex and terminating a pregnancy in India.
Rahman TA, Siddiqui AT
Indian J Med Ethics 2007 Jul-Sep;4(3):119-20. doi: 10.20529/IJME.2007.047. PMID: 18624139
Y chromosome and male infertility.
Krausz C
Andrologia 2005 Dec;37(6):219-23. doi: 10.1111/j.1439-0272.2005.00693.x. PMID: 16336255
The human gene map: a review.
de Grouchy J
Biomed Pharmacother 1983;37(4):159-72. PMID: 6362735

Diagnosis

Non-mosaic X monosomy (77,X) in a female dog with signs of virilization.
Szczerbal I, Malek E, Rigillo A, Lukomska A, Kacprzak K, Gasparini S, Nowacka-Woszuk J, Stachowiak M, Aksoy MO, Switonski M
J Appl Genet 2023 Feb;64(1):169-172. Epub 2022 Nov 28 doi: 10.1007/s13353-022-00739-3. PMID: 36441391Free PMC Article
45,X karyotype in an infertile man: how is this possible?
Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625
Evaluation of sex-specific gene expression in archived dried blood spots (DBS).
Resau JH, Ho NT, Dykema K, Faber MS, Busik JV, Nickolov RZ, Furge KA, Paneth N, Jewell S, Khoo SK
Int J Mol Sci 2012;13(8):9599-9608. Epub 2012 Aug 2 doi: 10.3390/ijms13089599. PMID: 22949818Free PMC Article
PGD gender selection for non-Mendelian disorders with unequal sex incidence.
Amor DJ, Cameron C
Hum Reprod 2008 Apr;23(4):729-34. Epub 2008 Jan 24 doi: 10.1093/humrep/dem433. PMID: 18222917
Y chromosome and male infertility.
Krausz C
Andrologia 2005 Dec;37(6):219-23. doi: 10.1111/j.1439-0272.2005.00693.x. PMID: 16336255

Therapy

Identification of Ribosomal Protein S4, Y-Linked 1 as a cyclosporin A plus corticosteroid resistance gene.
Chang R, Chen L, Su G, Du L, Qin Y, Xu J, Tan H, Zhou C, Cao Q, Yuan G, Kijlstra A, Yang P
J Autoimmun 2020 Aug;112:102465. Epub 2020 Apr 21 doi: 10.1016/j.jaut.2020.102465. PMID: 32331925
Chromosome Y-encoded antigens associate with acute graft-versus-host disease in sex-mismatched stem cell transplant.
Wang W, Huang H, Halagan M, Vierra-Green C, Heuer M, Brelsford JE, Haagenson M, Scheuermann RH, Telenti A, Biggs W, Pearson NM, Udell J, Spellman S, Maiers M, Kennedy CJ
Blood Adv 2018 Oct 9;2(19):2419-2429. doi: 10.1182/bloodadvances.2018019513. PMID: 30262602Free PMC Article
Zevalin(®) (ibritumomab tiuxetan): After more than a decade of treatment experience, what have we learned?
Rizzieri D
Crit Rev Oncol Hematol 2016 Sep;105:5-17. Epub 2016 Jul 16 doi: 10.1016/j.critrevonc.2016.07.008. PMID: 27497027
Impact of antenatal glucocorticosteroids on whole-genome expression in preterm babies.
Saugstad OD, Kwinta P, Wollen EJ, Bik-Multanowski M, Madetko-Talowska A, Jagła M, Tomasik T, Pietrzyk JJ
Acta Paediatr 2013 Apr;102(4):349-55. Epub 2013 Feb 11 doi: 10.1111/apa.12166. PMID: 23347050
Surnames as markers of pathologies--two statistical techniques and their applications.
Rocchi MB
Coll Antropol 2006 Jun;30(2):383-5. PMID: 16848155

Prognosis

Sex-linked genetic mechanisms and atrial fibrillation risk.
Wren G, Davies W
Eur J Med Genet 2022 Apr;65(4):104459. Epub 2022 Feb 19 doi: 10.1016/j.ejmg.2022.104459. PMID: 35189376
Zevalin(®) (ibritumomab tiuxetan): After more than a decade of treatment experience, what have we learned?
Rizzieri D
Crit Rev Oncol Hematol 2016 Sep;105:5-17. Epub 2016 Jul 16 doi: 10.1016/j.critrevonc.2016.07.008. PMID: 27497027
45,X karyotype in an infertile man: how is this possible?
Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625
A fresh look at the male-specific region of the human Y chromosome.
Jangravi Z, Alikhani M, Arefnezhad B, Sharifi Tabar M, Taleahmad S, Karamzadeh R, Jadaliha M, Mousavi SA, Ahmadi Rastegar D, Parsamatin P, Vakilian H, Mirshahvaladi S, Sabbaghian M, Mohseni Meybodi A, Mirzaei M, Shahhoseini M, Ebrahimi M, Piryaei A, Moosavi-Movahedi AA, Haynes PA, Goodchild AK, Nasr-Esfahani MH, Jabbari E, Baharvand H, Sedighi Gilani MA, Gourabi H, Salekdeh GH
J Proteome Res 2013 Jan 4;12(1):6-22. Epub 2012 Dec 20 doi: 10.1021/pr300864k. PMID: 23253012
The genetic basis of infertility in men.
Bhasin S, Mallidis C, Ma K
Baillieres Best Pract Res Clin Endocrinol Metab 2000 Sep;14(3):363-88. doi: 10.1053/beem.2000.0085. PMID: 11097781

Clinical prediction guides

Non-mosaic X monosomy (77,X) in a female dog with signs of virilization.
Szczerbal I, Malek E, Rigillo A, Lukomska A, Kacprzak K, Gasparini S, Nowacka-Woszuk J, Stachowiak M, Aksoy MO, Switonski M
J Appl Genet 2023 Feb;64(1):169-172. Epub 2022 Nov 28 doi: 10.1007/s13353-022-00739-3. PMID: 36441391Free PMC Article
Sex-linked genetic mechanisms and atrial fibrillation risk.
Wren G, Davies W
Eur J Med Genet 2022 Apr;65(4):104459. Epub 2022 Feb 19 doi: 10.1016/j.ejmg.2022.104459. PMID: 35189376
TSPY1 suppresses USP7-mediated p53 function and promotes spermatogonial proliferation.
Shen Y, Tu W, Liu Y, Yang X, Dong Q, Yang B, Xu J, Yan Y, Pei X, Liu M, Xu W, Yang Y
Cell Death Dis 2018 May 1;9(5):542. doi: 10.1038/s41419-018-0589-7. PMID: 29748603Free PMC Article
FoxP3: a genetic link between immunodeficiency and autoimmune diseases.
Chang X, Zheng P, Liu Y
Autoimmun Rev 2006 Jul;5(6):399-402. Epub 2005 Dec 7 doi: 10.1016/j.autrev.2005.10.008. PMID: 16890893
The genetic basis of infertility in men.
Bhasin S, Mallidis C, Ma K
Baillieres Best Pract Res Clin Endocrinol Metab 2000 Sep;14(3):363-88. doi: 10.1053/beem.2000.0085. PMID: 11097781

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...