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MSPKA
MCID: MCR253
MIFTS: 21
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Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma (MSPKA)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...
MalaCards integrated aliases for Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma:
Name: Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma
57
75
13
73
Characteristics:Orphanet epidemiological data:59
glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root HPO:32
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases
ICD10:
34
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OMIM
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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)
MalaCards based summary : Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma, also known as mspka, is related to megalocornea - spherophakia - secondary glaucoma. 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, heart and skin, and related phenotypes are pectus excavatum and high palate UniProtKB/Swiss-Prot : 75 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. |
Diseases related to Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:251750Human phenotypes related to Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma:32 (show all 10)
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MalaCards organs/tissues related to Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma:41
Eye,
Heart,
Skin
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Genes related to Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma:6
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Search
GEO
for disease gene expression data for Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma.
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