Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

General Information (adopted from Orphanet):

Synonyms, Signs: MSPKA
Megalocornea - spherophakia - secondary glaucoma
Number of Symptoms 21
OrphanetNr: 238763
OMIM Id: 251750
ICD-10: Q15.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary glaucoma
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002705) High, narrow palate 308 / 7739
2
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
3
 (HPO:0007906) Increased intraocular pressure 30 / 7739
4
 (HPO:0000540) Hypermetropia rare [HPO:skoehler] 99 / 7739
5
 (HPO:0000501) Glaucoma 180 / 7739
6
 (HPO:0007765) Deep anterior chamber rare [HPO:skoehler] 1 / 7739
7
 (HPO:0100693) Iridodonesis rare [HPO:skoehler] 3 / 7739
8
 (HPO:0008499) High-grade hypermetropia 14 / 7739
9
 (HPO:0000485) Megalocornea 26 / 7739
10
 (HPO:0001083) Ectopia lentis 45 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Retinal detachment, postsurgical (in some patients) 1 / 7739
13
 (OMIM) Normal skin 5 / 7739
14
 (OMIM) Decreased upper-to-lower body ratio (rare) 1 / 7739
15
 (OMIM) Normal gums 1 / 7739
16
 (OMIM) Normal teeth 15 / 7739
17
 (OMIM) Myopia, axial 1 / 7739
18
 (OMIM) Flat anterior chamber (in some patients) 1 / 7739
19
 (OMIM) Microspherophakia 7 / 7739
20
 (OMIM) Increased arm-span-to-height ratio (rare) 1 / 7739
21
 (OMIM) Mild pectus excavatum 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Ben Yahia et al. (2009) studied a sister and brother with isolated microspherophakia from a consanguineous Tunisian family. They had no cardiovascular, musculoskeletal, or metabolic disease, and there was no family history of Marfan syndrome, Weill-Marchesani syndrome, or ...
Molecular genetics OMIM In 3 affected brothers from a consanguineous Indian family segregating microspherophakia mapping to chromosome 14q24-q32.12, Kumar et al. (2010) identified homozygosity for a frameshift mutation in the LTBP2 gene (602091.0005).