MSPKA
MCID: MCR253
MIFTS: 24

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

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 20 72 13 6 70
Mspka 57 20 72
Microspherophakia and/or Megalocornea, with Ectopia Lentis, with/without Secondary Glaucoma 39
Glaucoma Secondary to Spherophakia/ectopia Lentis and Megalocornea 58
Megalocornea-Spherophakia-Secondary Glaucoma Syndrome 58
Megalocornea - Spherophakia - Secondary Glaucoma 20

Characteristics:

Orphanet epidemiological data:

58
glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root


HPO:

31
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 251750
MeSH 44 D007905
ICD10 via Orphanet 33 Q15.8
Orphanet 58 ORPHA238763
UMLS 70 C3538951

Summaries for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

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 20-May-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.

Related Diseases for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

Symptoms & Phenotypes for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

Human phenotypes related to Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma:

31 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 high palate 31 occasional (7.5%) HP:0000218
2 pectus excavatum 31 occasional (7.5%) HP:0000767
3 hypermetropia 31 occasional (7.5%) HP:0000540
4 iridodonesis 31 occasional (7.5%) HP:0100693
5 deep anterior chamber 31 occasional (7.5%) HP:0007765
6 myopia 31 HP:0000545
7 ectopia lentis 31 HP:0001083
8 glaucoma 31 HP:0000501
9 megalocornea 31 HP:0000485
10 microspherophakia 31 HP:0030961

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
megalocornea
microspherophakia
hypermetropia (in some patients)
lens dislocation
myopia, axial
more
Head And Neck Teeth:
normal teeth

Head And Neck Mouth:
high-arched palate (in some patients)
normal gums

Skin Nails Hair Skin:
normal skin

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild (rare)

Growth Other:
increased arm-span-to-height ratio (rare)
decreased upper-to-lower body ratio (rare)

Clinical features from OMIM®:

251750 (Updated 20-May-2021)

Drugs & Therapeutics for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

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

Genetic Tests for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

Anatomical Context for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

MalaCards organs/tissues related to Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma:

40
Eye, Heart

Publications for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

Articles related to Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma:

(showing 6, show less)
# Title Authors PMID Year
1
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. 6 57
22025892 2011
2
A homozygous mutation in LTBP2 causes isolated microspherophakia. 6 57
20617341 2010
3
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 57 6
20179738 2010
4
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 6
21081970 2011
5
Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. 57
19696795 2009
6
Null mutations in LTBP2 cause primary congenital glaucoma. 6
19361779 2009

Variations for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

ClinVar genetic disease variations for Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma:

6 (showing 10, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LTBP2 NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter) SNV Pathogenic 7554 rs121918355 GRCh37: 14:75022332-75022332
GRCh38: 14:74555629-74555629
2 LTBP2 NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr) SNV Pathogenic 31630 rs387907175 GRCh37: 14:74971742-74971742
GRCh38: 14:74505039-74505039
3 LTBP2 NM_000428.3(LTBP2):c.4855C>T (p.Gln1619Ter) SNV Pathogenic 31629 rs387907174 GRCh37: 14:74969955-74969955
GRCh38: 14:74503252-74503252
4 LTBP2 NM_000428.3(LTBP2):c.1012del (p.Ser338fs) Deletion Pathogenic 31628 rs1566636728 GRCh37: 14:75022215-75022215
GRCh38: 14:74555512-74555512
5 LTBP2 NM_000428.3(LTBP2):c.1796dup (p.Val600fs) Duplication Pathogenic 31627 rs1566628109 GRCh37: 14:75002696-75002697
GRCh38: 14:74535993-74535994
6 LTBP2 NM_000428.3(LTBP2):c.5446dup (p.His1816fs) Duplication Pathogenic 7558 rs777661862 GRCh37: 14:74967606-74967607
GRCh38: 14:74500903-74500904
7 LTBP2 NM_000428.3(LTBP2):c.2240A>G (p.Glu747Gly) SNV Uncertain significance 988083 GRCh37: 14:74995314-74995314
GRCh38: 14:74528611-74528611
8 LTBP2 NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) Duplication Uncertain significance 487460 rs554570575 GRCh37: 14:75052565-75052566
GRCh38: 14:74585862-74585863
9 LTBP2 NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) SNV Uncertain significance 785818 rs45468895 GRCh37: 14:74975348-74975348
GRCh38: 14:74508645-74508645
10 LTBP2 NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) SNV Uncertain significance 828006 rs199581688 GRCh37: 14:74999138-74999138
GRCh38: 14:74532435-74532435

Expression for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

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

Pathways for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

GO Terms for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

Sources for Microspherophakia and/or Megalocornea, with Ectopia Lentis and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....