MYP22
MCID: MYP075
MIFTS: 18

Myopia 22, Autosomal Dominant (MYP22)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopia 22, Autosomal Dominant

MalaCards integrated aliases for Myopia 22, Autosomal Dominant:

Name: Myopia 22, Autosomal Dominant 57 72 29 6 70
Myp22 57 72
Myopia, Autosomal Dominant, Type 22 39

Characteristics:

OMIM®:

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


HPO:

31
myopia 22, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615420
OMIM Phenotypic Series 57 PS160700
MeSH 44 D009216
SNOMED-CT via HPO 68 13164000 263681008 57190000
UMLS 70 C3809464

Summaries for Myopia 22, Autosomal Dominant

OMIM® : 57 Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700. (615420) (Updated 20-May-2021)

MalaCards based summary : Myopia 22, Autosomal Dominant, is also known as myp22. An important gene associated with Myopia 22, Autosomal Dominant is PRIMPOL (Primase And DNA Directed Polymerase). Affiliated tissues include eye and retina, and related phenotypes are myopia and reduced visual acuity

UniProtKB/Swiss-Prot : 72 Myopia 22, autosomal dominant: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far.

Related Diseases for Myopia 22, Autosomal Dominant

Symptoms & Phenotypes for Myopia 22, Autosomal Dominant

Human phenotypes related to Myopia 22, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
decreased visual acuity
increased axial length of globe
myopia of variable severity

Clinical features from OMIM®:

615420 (Updated 20-May-2021)

Drugs & Therapeutics for Myopia 22, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myopia 22, Autosomal Dominant

Genetic Tests for Myopia 22, Autosomal Dominant

Genetic tests related to Myopia 22, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Myopia 22, Autosomal Dominant 29 PRIMPOL

Anatomical Context for Myopia 22, Autosomal Dominant

MalaCards organs/tissues related to Myopia 22, Autosomal Dominant:

40
Eye, Retina

Publications for Myopia 22, Autosomal Dominant

Articles related to Myopia 22, Autosomal Dominant:

# Title Authors PMID Year
1
Exome sequencing reveals CCDC111 mutation associated with high myopia. 57 6
23579484 2013

Variations for Myopia 22, Autosomal Dominant

ClinVar genetic disease variations for Myopia 22, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRIMPOL NM_152683.4(PRIMPOL):c.950C>G (p.Ser317Ter) SNV Pathogenic 1031681 GRCh37: 4:185599491-185599491
GRCh38: 4:184678337-184678337
2 PRIMPOL NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp) SNV Conflicting interpretations of pathogenicity 65424 rs200857997 GRCh37: 4:185580578-185580578
GRCh38: 4:184659424-184659424

Expression for Myopia 22, Autosomal Dominant

Search GEO for disease gene expression data for Myopia 22, Autosomal Dominant.

Pathways for Myopia 22, Autosomal Dominant

GO Terms for Myopia 22, Autosomal Dominant

Sources for Myopia 22, Autosomal Dominant

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
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