Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma (MSPKA)

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OMIM® 57 251750 MeSH 44 D007905 ICD10 via Orphanet 33 Q15.8 Orphanet 58 ORPHA238763

MedGen 41 C1562061 C3538951 SNOMED-CT via HPO 68 118166004 204118005 23986001 246991003 258211005 268158009 27272007 38101003 391987005 57190000 74969002 more UMLS 70 C3538951

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 238763 Definition Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.

MalaCards based summary : Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma, is also known as mspka. An important gene associated with Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2). Affiliated tissues include eye and heart, and related phenotypes are high palate and pectus excavatum

OMIM® : ⁵⁷ Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600). (251750) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : ⁷² Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma: A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation.

Clinical features from OMIM®:

251750 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma

Search GEO for disease gene expression data for Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma.