MCID: MCR253
MIFTS: 20

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

Categories: Genetic diseases, Eye diseases, Fetal 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 75 13 73
Mspka 57 75
Microspherophakia and/or Megalocornea, with Ectopia Lentis, with/without Secondary Glaucoma 40
Glaucoma Secondary to Spherophakia/ectopia Lentis and Megalocornea 59
Megalocornea-Spherophakia-Secondary Glaucoma Syndrome 59

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:



External Ids:

OMIM 57 251750
Orphanet 59 ORPHA238763
ICD10 via Orphanet 34 Q15.8
MeSH 44 D007905
UMLS 73 C3538951

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

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)

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 high palate and megalocornea

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.

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

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:

# Related Disease Score Top Affiliating Genes
1 megalocornea - spherophakia - secondary glaucoma 11.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
megalocornea
hypermetropia (in some patients)
lens dislocation
microspherophakia
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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 megalocornea 32 HP:0000485
3 hypermetropia 32 occasional (7.5%) HP:0000540
4 pectus excavatum 32 occasional (7.5%) HP:0000767
5 ectopia lentis 32 HP:0001083
6 deep anterior chamber 32 occasional (7.5%) HP:0007765
7 microspherophakia 32 HP:0030961
8 iridodonesis 32 occasional (7.5%) HP:0100693

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:

41
Eye, Heart, Skin

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

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
# Gene Variation Type Significance SNP ID Assembly Location
1 LTBP2 NM_000428.2(LTBP2): c.895C> T (p.Arg299Ter) single nucleotide variant Pathogenic rs121918355 GRCh37 Chromosome 14, 75022332: 75022332
2 LTBP2 NM_000428.2(LTBP2): c.895C> T (p.Arg299Ter) single nucleotide variant Pathogenic rs121918355 GRCh38 Chromosome 14, 74555629: 74555629
3 LTBP2 LTBP2, 1-BP INS, 5446C insertion Pathogenic
4 LTBP2 LTBP2, 1-BP DUP, 1796C insertion Pathogenic
5 LTBP2 LTBP2, 1-BP DEL, 1012T deletion Pathogenic
6 LTBP2 NM_000428.2(LTBP2): c.4855C> T (p.Gln1619Ter) single nucleotide variant Pathogenic rs387907174 GRCh37 Chromosome 14, 74969955: 74969955
7 LTBP2 NM_000428.2(LTBP2): c.4855C> T (p.Gln1619Ter) single nucleotide variant Pathogenic rs387907174 GRCh38 Chromosome 14, 74503252: 74503252
8 LTBP2 NM_000428.2(LTBP2): c.4313G> A (p.Cys1438Tyr) single nucleotide variant Pathogenic rs387907175 GRCh37 Chromosome 14, 74971742: 74971742
9 LTBP2 NM_000428.2(LTBP2): c.4313G> A (p.Cys1438Tyr) single nucleotide variant Pathogenic rs387907175 GRCh38 Chromosome 14, 74505039: 74505039

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...

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17 ExPASy
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28 GO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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