Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

X-Linked Inherited Disorder

MedGen UID:: 443623
•Concept ID:: C2828000
•: Disease or Syndrome

Definition

An inherited disorder affecting mostly males. It results from defective genes that are present on the X chromosome. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVX-Linked Inherited Disorder

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - X-Linked Inherited Disorder
        Cardiac valvular dysplasia, X-linked
        Creatine transporter deficiency
        Familial X-linked hypophosphatemic vitamin D refractory rickets
        PIGA Deficiency
        X-linked erythropoietic protoporphyria

Professional guidelines

PubMed

Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021.

Silva CAB, Andrade LGM, Vaisbich MH, Barreto FC
J Bras Nefrol 2022 Apr-Jun;44(2):249-267. doi: 10.1590/2175-8239-JBN-2021-0208. PMID: 35212703 Free PMC Article

The management and treatment of children with Fabry disease: A United States-based perspective.

Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR; Fabry Pediatric Expert Panel
Mol Genet Metab 2016 Feb;117(2):104-13. Epub 2015 Oct 23 doi: 10.1016/j.ymgme.2015.10.007. PMID: 26546059

Diagnosis and management of G6PD deficiency.

Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

See all (4)

Recent clinical studies

Etiology

Fabry disease screening in high-risk populations in Japan: a nationwide study.

Yoshida S, Kido J, Sawada T, Momosaki K, Sugawara K, Matsumoto S, Endo F, Nakamura K
Orphanet J Rare Dis 2020 Aug 26;15(1):220. doi: 10.1186/s13023-020-01494-6. PMID: 32843101 Free PMC Article

Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey.

Barman HA, Özcan S, Atıcı A, Özgökçe C, Öztürk A, Kafalı AE, Çakar NE, Tavşanlı ME, Küçük M, Şahin I, Okuyan E
Anatol J Cardiol 2020 Jan;23(2):79-85. doi: 10.14744/AnatolJCardiol.2019.84782. PMID: 32011328 Free PMC Article

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Turaça LT, Ferrer HLF, Gomes CP, Nicolicht P, Mara Marins M, Pessoa JG, Braga MC, D'Almeida V, Martins AM, Pesquero JB
Orphanet J Rare Dis 2020 Jan 29;15(1):30. doi: 10.1186/s13023-019-1274-3. PMID: 31996269 Free PMC Article

Native T1 values identify myocardial changes and stratify disease severity in patients with Duchenne muscular dystrophy.

Olivieri LJ, Kellman P, McCarter RJ, Cross RR, Hansen MS, Spurney CF
J Cardiovasc Magn Reson 2016 Oct 28;18(1):72. doi: 10.1186/s12968-016-0292-8. PMID: 27788681 Free PMC Article

Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.

Huzmeli C, Candan F, Alaygut D, Bagci G, Akkaya L, Bagci B, Sozmen EY, Kurtulgan HK, Kayatas M
Biochem Genet 2016 Aug;54(4):448-456. Epub 2016 Apr 22 doi: 10.1007/s10528-016-9731-3. PMID: 27105876

See all (9)

Diagnosis

Fabry disease - current data and therapeutic approaches.

Dinu IR, Firu ŞG
Rom J Morphol Embryol 2021 Jan-Mar;62(1):5-11. doi: 10.47162/RJME.62.1.01. PMID: 34609404 Free PMC Article

Emerging proteomic biomarkers of X-linked muscular dystrophy.

Dowling P, Murphy S, Zweyer M, Raucamp M, Swandulla D, Ohlendieck K
Expert Rev Mol Diagn 2019 Aug;19(8):739-755. Epub 2019 Aug 2 doi: 10.1080/14737159.2019.1648214. PMID: 31359811

Fabry disease.

Germain DP
Orphanet J Rare Dis 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 21092187 Free PMC Article

Diagnosis and management of G6PD deficiency.

Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Adrenomyeloneuropathy.

Mehndiratta MM, Rao KB, Garg S, Pandey S
J Assoc Physicians India 2005 Jun;53:562-3. PMID: 16121813

See all (24)

Therapy

Cardiac Involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring.

Umer M, Motwani M, Jefferies JL, Nagueh SF, Kalra DK
Curr Probl Cardiol 2023 Jan;48(1):101439. Epub 2022 Oct 4 doi: 10.1016/j.cpcardiol.2022.101439. PMID: 36202174

Fabry disease - current data and therapeutic approaches.

Dinu IR, Firu ŞG
Rom J Morphol Embryol 2021 Jan-Mar;62(1):5-11. doi: 10.47162/RJME.62.1.01. PMID: 34609404 Free PMC Article

New developments in the use of gene therapy to treat Duchenne muscular dystrophy.

Jarmin S, Kymalainen H, Popplewell L, Dickson G
Expert Opin Biol Ther 2014 Feb;14(2):209-30. Epub 2013 Dec 6 doi: 10.1517/14712598.2014.866087. PMID: 24308293

Fabry disease.

Germain DP
Orphanet J Rare Dis 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 21092187 Free PMC Article

Fabry disease: recent advances in enzyme replacement therapy.

Germain DP
Expert Opin Investig Drugs 2002 Oct;11(10):1467-76. doi: 10.1517/13543784.11.10.1467. PMID: 12387706

See all (11)

Prognosis

Emerging proteomic biomarkers of X-linked muscular dystrophy.

Dowling P, Murphy S, Zweyer M, Raucamp M, Swandulla D, Ohlendieck K
Expert Rev Mol Diagn 2019 Aug;19(8):739-755. Epub 2019 Aug 2 doi: 10.1080/14737159.2019.1648214. PMID: 31359811

Native T1 values identify myocardial changes and stratify disease severity in patients with Duchenne muscular dystrophy.

Olivieri LJ, Kellman P, McCarter RJ, Cross RR, Hansen MS, Spurney CF
J Cardiovasc Magn Reson 2016 Oct 28;18(1):72. doi: 10.1186/s12968-016-0292-8. PMID: 27788681 Free PMC Article

Aicardi syndrome in two Turkish children.

Bayram E, Topcu Y, Akinci G, Hiz S, Cakmakci H
Ann Saudi Med 2013 Jan-Feb;33(1):73-5. doi: 10.5144/0256-4947.2012.01.7.1545. PMID: 22750766 Free PMC Article

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

Chiarelli LR, Morera SM, Bianchi P, Fermo E, Zanella A, Galizzi A, Valentini G
PLoS One 2012;7(2):e32065. Epub 2012 Feb 14 doi: 10.1371/journal.pone.0032065. PMID: 22348148 Free PMC Article

Adrenoleukodystrophy associated with vitiligo and ulcerative colitis.

Sawaya RA, Mourad FH, Najjar S, Mikati M, Raymond GV
Eur Neurol 1999;42(3):169-72. doi: 10.1159/000008093. PMID: 10529544

See all (10)

Clinical prediction guides

Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.

Huzmeli C, Candan F, Alaygut D, Bagci G, Akkaya L, Bagci B, Sozmen EY, Kurtulgan HK, Kayatas M
Biochem Genet 2016 Aug;54(4):448-456. Epub 2016 Apr 22 doi: 10.1007/s10528-016-9731-3. PMID: 27105876

Aicardi syndrome in two Turkish children.

Bayram E, Topcu Y, Akinci G, Hiz S, Cakmakci H
Ann Saudi Med 2013 Jan-Feb;33(1):73-5. doi: 10.5144/0256-4947.2012.01.7.1545. PMID: 22750766 Free PMC Article

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

Chiarelli LR, Morera SM, Bianchi P, Fermo E, Zanella A, Galizzi A, Valentini G
PLoS One 2012;7(2):e32065. Epub 2012 Feb 14 doi: 10.1371/journal.pone.0032065. PMID: 22348148 Free PMC Article

Fabry disease: recent advances in enzyme replacement therapy.

Germain DP
Expert Opin Investig Drugs 2002 Oct;11(10):1467-76. doi: 10.1517/13543784.11.10.1467. PMID: 12387706

Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder.

Coude FX, Ogier H, Charpentier C, Thomassin G, Checoury A, Amedee-Manesme O, Saudubray JM, Frezal J
Hum Genet 1981;59(3):263-5. doi: 10.1007/BF00283677. PMID: 7199025

See all (12)

MedGen

National Center for Biotechnology Information