MCID: RRS002
MIFTS: 10

Rare Isolated Myopia

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Rare Isolated Myopia

MalaCards integrated aliases for Rare Isolated Myopia:

Name: Rare Isolated Myopia 58 6

Characteristics:

Orphanet epidemiological data:

58
rare isolated myopia
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

UMLS via Orphanet 72 C0027092
Orphanet 58 ORPHA98619

Summaries for Rare Isolated Myopia

MalaCards based summary : Rare Isolated Myopia is related to refractive error and myopia. An important gene associated with Rare Isolated Myopia is LRPAP1 (LDL Receptor Related Protein Associated Protein 1). Affiliated tissues include eye.

Related Diseases for Rare Isolated Myopia

Diseases related to Rare Isolated Myopia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 refractive error 9.4 SCO2 LRPAP1
2 myopia 8.9 SCO2 P3H2 LRPAP1

Symptoms & Phenotypes for Rare Isolated Myopia

Drugs & Therapeutics for Rare Isolated Myopia

Search Clinical Trials , NIH Clinical Center for Rare Isolated Myopia

Genetic Tests for Rare Isolated Myopia

Anatomical Context for Rare Isolated Myopia

MalaCards organs/tissues related to Rare Isolated Myopia:

40
Eye

Publications for Rare Isolated Myopia

Variations for Rare Isolated Myopia

ClinVar genetic disease variations for Rare Isolated Myopia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRPAP1 NM_002337.4(LRPAP1):c.181C>T (p.Gln61Ter)SNV Likely pathogenic 505006 rs773243225 4:3533959-3533959 4:3532232-3532232

Expression for Rare Isolated Myopia

Search GEO for disease gene expression data for Rare Isolated Myopia.

Pathways for Rare Isolated Myopia

GO Terms for Rare Isolated Myopia

Biological processes related to Rare Isolated Myopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 SCO2 P3H2

Sources for Rare Isolated Myopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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