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Alfadhel syndrome(AFDL)

MedGen UID:
1050253
•Concept ID:
CN375873
•
Disease or Syndrome
Synonym: AFDL
 
Gene (location): RAP1GDS1 (4q23)
 
Monarch Initiative: MONDO:0958001
OMIM®: 620655

Recent clinical studies

Etiology

Hereditary Hyperekplexia in Saudi Arabia.
Aldhilan A, Alhakeem A, Al Hajjaj S, Abukhalid M, Aldhalaan H, Salah E, Saeed M, Tabassum S, El Khashab HY, Aljabri M, Ali ES, Alwadei A, Hundallah K, Alghamdi A, Hakami W, AlShafi S, Alkuraya FS, Alanazy N, Seidahmed MZ, Alfadhel M, Tabarki B
Pediatr Neurol 2022 Sep;134:78-82. Epub 2022 Jun 24 doi: 10.1016/j.pediatrneurol.2022.06.015. PMID: 35841715
Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic.
STARSurg Collaborative and COVIDSurg Collaborative
Br J Surg 2021 Dec 1;108(12):1448-1464. doi: 10.1093/bjs/znab336. PMID: 34871379Free PMC Article
Coronary Events in the Pregnant Patient: Who Is at Risk and How Best to Manage?
Samuel R, Alfadhel M, McAlister C, Nestelberger T, Saw J
Can J Cardiol 2021 Dec;37(12):2026-2034. Epub 2021 Sep 14 doi: 10.1016/j.cjca.2021.09.009. PMID: 34530109
Spontaneous Coronary Artery Dissection: Latest Developments and New Frontiers.
Yang C, Alfadhel M, Saw J
Curr Atheroscler Rep 2020 Jul 30;22(9):49. doi: 10.1007/s11883-020-00866-4. PMID: 32734349
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS
Genet Med 2018 Dec;20(12):1609-1616. Epub 2018 Apr 5 doi: 10.1038/gim.2018.50. PMID: 29620724

Diagnosis

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P
Genet Med 2021 Aug;23(8):1551-1568. Epub 2021 Apr 19 doi: 10.1038/s41436-021-01159-0. PMID: 33875846Free PMC Article
Spontaneous Coronary Artery Dissection: Latest Developments and New Frontiers.
Yang C, Alfadhel M, Saw J
Curr Atheroscler Rep 2020 Jul 30;22(9):49. doi: 10.1007/s11883-020-00866-4. PMID: 32734349
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS
Genet Med 2018 Dec;20(12):1609-1616. Epub 2018 Apr 5 doi: 10.1038/gim.2018.50. PMID: 29620724
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.
Alfadhel M, Tabarki B
Neuropediatrics 2018 Apr;49(2):83-92. Epub 2017 Sep 29 doi: 10.1055/s-0037-1607191. PMID: 28962040
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R
Eur J Hum Genet 2017 Feb;25(2):176-182. Epub 2016 Nov 16 doi: 10.1038/ejhg.2016.146. PMID: 27848944Free PMC Article

Therapy

Differences in Demographics and Outcomes Between Men and Women With Spontaneous Coronary Artery Dissection.
McAlister C, Alfadhel M, Samuel R, Starovoytov A, Parolis JA, Grewal T, Aymong E, Sedlak T, Ganesh SK, Saw J
JACC Cardiovasc Interv 2022 Oct 24;15(20):2052-2061. doi: 10.1016/j.jcin.2022.08.023. PMID: 36265936
Spontaneous Coronary Artery Dissection: Latest Developments and New Frontiers.
Yang C, Alfadhel M, Saw J
Curr Atheroscler Rep 2020 Jul 30;22(9):49. doi: 10.1007/s11883-020-00866-4. PMID: 32734349
Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab.
Alfakeeh K, Azar M, Alfadhel M, Abdullah AM, Aloudah N, Alsaad KO
Pediatr Nephrol 2017 May;32(5):885-891. Epub 2017 Feb 16 doi: 10.1007/s00467-016-3577-0. PMID: 28210841
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N
J Med Genet 2015 Mar;52(3):186-94. Epub 2014 Dec 24 doi: 10.1136/jmedgenet-2014-102592. PMID: 25539947

Prognosis

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM
Genet Med 2023 Feb;25(2):100323. Epub 2022 Nov 19 doi: 10.1016/j.gim.2022.10.006. PMID: 36401616
Spontaneous Coronary Artery Dissection: Latest Developments and New Frontiers.
Yang C, Alfadhel M, Saw J
Curr Atheroscler Rep 2020 Jul 30;22(9):49. doi: 10.1007/s11883-020-00866-4. PMID: 32734349
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.
Al Tuwaijri A, Alfadhel M
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):409-413. doi: 10.1515/jpem-2018-0505. PMID: 30796847
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M
BMC Ophthalmol 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4. PMID: 29929488Free PMC Article
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW
J Pediatr 2014 Mar;164(3):553-9.e1-2. Epub 2013 Dec 8 doi: 10.1016/j.jpeds.2013.10.082. PMID: 24321534

Clinical prediction guides

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM
Genet Med 2023 Feb;25(2):100323. Epub 2022 Nov 19 doi: 10.1016/j.gim.2022.10.006. PMID: 36401616
Differences in Demographics and Outcomes Between Men and Women With Spontaneous Coronary Artery Dissection.
McAlister C, Alfadhel M, Samuel R, Starovoytov A, Parolis JA, Grewal T, Aymong E, Sedlak T, Ganesh SK, Saw J
JACC Cardiovasc Interv 2022 Oct 24;15(20):2052-2061. doi: 10.1016/j.jcin.2022.08.023. PMID: 36265936
Spontaneous Coronary Artery Dissection: Latest Developments and New Frontiers.
Yang C, Alfadhel M, Saw J
Curr Atheroscler Rep 2020 Jul 30;22(9):49. doi: 10.1007/s11883-020-00866-4. PMID: 32734349
A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.
Al Mutairi F, Shamseldin HE, Alfadhel M, Rodenburg RJ, Alkuraya FS
Clin Genet 2017 Apr;91(4):629-633. Epub 2016 Nov 30 doi: 10.1111/cge.12891. PMID: 27905109
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R
Eur J Hum Genet 2017 Feb;25(2):176-182. Epub 2016 Nov 16 doi: 10.1038/ejhg.2016.146. PMID: 27848944Free PMC Article

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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