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Myopia 21, autosomal dominant(MYP21)

MedGen UID:
481627
•Concept ID:
C3279997
•
Disease or Syndrome
Synonym: MYP21
 
Gene (location): ZNF644 (1p22.2)
 
Monarch Initiative: MONDO:0013604
OMIM®: 614167

Definition

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700. [from OMIM]

Clinical features

From HPO
High myopia
MedGen UID:
78759
•Concept ID:
C0271183
•
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q
Exp Eye Res 2021 Jul;208:108637. Epub 2021 May 26 doi: 10.1016/j.exer.2021.108637. PMID: 34048777

Recent clinical studies

Etiology

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.
Zhang Y, Sun X, Tian G, Chen Y
Eye (Lond) 2023 Mar;37(4):624-630. Epub 2022 Mar 10 doi: 10.1038/s41433-022-01990-y. PMID: 35273349Free PMC Article
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
Abdelwahed M, Hilbert P, Ahmed A, Dey M, Bouomrani S, Kamoun H, Ammar-Keskes L, Belguith N
Gene 2022 Apr 5;817:146174. Epub 2022 Jan 12 doi: 10.1016/j.gene.2021.146174. PMID: 35031424
Spontaneous suprachoroidal hemorrhage in a high myopia patient with rhegmatogenous retinal detachment: a case report and literature review.
Chai F, Zeng L, Li C, Zhao X
Biosci Rep 2019 Jun 28;39(6) Epub 2019 Jun 25 doi: 10.1042/BSR20181454. PMID: 31160485Free PMC Article
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V
Am J Med Genet A 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. PMID: 14598350

Diagnosis

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.
Zhang Y, Sun X, Tian G, Chen Y
Eye (Lond) 2023 Mar;37(4):624-630. Epub 2022 Mar 10 doi: 10.1038/s41433-022-01990-y. PMID: 35273349Free PMC Article
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
Abdelwahed M, Hilbert P, Ahmed A, Dey M, Bouomrani S, Kamoun H, Ammar-Keskes L, Belguith N
Gene 2022 Apr 5;817:146174. Epub 2022 Jan 12 doi: 10.1016/j.gene.2021.146174. PMID: 35031424
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886

Prognosis

Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
Abdelwahed M, Hilbert P, Ahmed A, Dey M, Bouomrani S, Kamoun H, Ammar-Keskes L, Belguith N
Gene 2022 Apr 5;817:146174. Epub 2022 Jan 12 doi: 10.1016/j.gene.2021.146174. PMID: 35031424
Spontaneous suprachoroidal hemorrhage in a high myopia patient with rhegmatogenous retinal detachment: a case report and literature review.
Chai F, Zeng L, Li C, Zhao X
Biosci Rep 2019 Jun 28;39(6) Epub 2019 Jun 25 doi: 10.1042/BSR20181454. PMID: 31160485Free PMC Article
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886
Pseudoinflammatory fundus dystrophy: a follow-up study.
Eriksson AW, Suvanto EA, Frants RR, Forsius HR
Clin Genet 1990 Jul;38(1):21-32. doi: 10.1111/j.1399-0004.1990.tb03543.x. PMID: 2387082

Clinical prediction guides

Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
Abdelwahed M, Hilbert P, Ahmed A, Dey M, Bouomrani S, Kamoun H, Ammar-Keskes L, Belguith N
Gene 2022 Apr 5;817:146174. Epub 2022 Jan 12 doi: 10.1016/j.gene.2021.146174. PMID: 35031424
Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa.
Wang Y, Chen X, Gao X, Zhao A, Zhao C, Chen X
BMC Ophthalmol 2021 Oct 19;21(1):371. doi: 10.1186/s12886-021-02110-2. PMID: 34666717Free PMC Article
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886
Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.
Nürnberg G, Jacobi FK, Broghammer M, Becker C, Blin N, Nürnberg P, Stephani U, Pusch CM
Int J Mol Med 2008 Apr;21(4):429-38. PMID: 18360688
Familial high myopia linkage to chromosome 18p.
Lam DS, Tam PO, Fan DS, Baum L, Leung YF, Pang CP
Ophthalmologica 2003 Mar-Apr;217(2):115-8. doi: 10.1159/000068554. PMID: 12592049

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • 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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