Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

Preferred Label : Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;

Symbol : MSPKA;

CISMeF acronym : MSPKA;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the latent transforming growth factor beta binding protein 2 gene (LTBP2, 602091.0005);

Prefixed ID : #251750;

Détails

Origin ID

251750;

UMLS CUI

C3538951;

CISMeF manual mappings
- Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Glaucoma secondary to spherophakia/ectopia lentis and megalocornea [ORDO Disease]
Genes related to phenotype
- Latent transforming growth factor-beta-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Deep anterior chamber [HPO term]
- Ectopia lentis [HPO term]
- Glaucoma [HPO term]
- High palate [HPO term]
- Hypermetropia [HPO term]
- Iridodonesis [HPO term]
- Megalocornea [HPO term]
- Microspherophakia [HPO term]
- Myopia [HPO term]
- Pectus excavatum [HPO term]
Not associated HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the skin [HPO term]
ORDO concept(s)
- Glaucoma secondary to spherophakia/ectopia lentis and megalocornea [ORDO Disease]
See also inter- (CISMeF)
- LTBP2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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