MYP25
MCID: MYP117
MIFTS: 19

Myopia 25, Autosomal Dominant (MYP25)

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

Aliases & Classifications for Myopia 25, Autosomal Dominant

MalaCards integrated aliases for Myopia 25, Autosomal Dominant:

Name: Myopia 25, Autosomal Dominant 56 73 29 6
Myp25 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset of myopia by age 10 years


HPO:

31
myopia 25, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 617238
OMIM Phenotypic Series 56 PS160700
MeSH 43 D009216
SNOMED-CT via HPO 68 263681008 34187009

Summaries for Myopia 25, Autosomal Dominant

OMIM : 56 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. (617238)

MalaCards based summary : Myopia 25, Autosomal Dominant, is also known as myp25. An important gene associated with Myopia 25, Autosomal Dominant is P4HA2 (Prolyl 4-Hydroxylase Subunit Alpha 2). Affiliated tissues include retina and eye, and related phenotype is high myopia.

UniProtKB/Swiss-Prot : 73 Myopia 25, 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 25, Autosomal Dominant

Symptoms & Phenotypes for Myopia 25, Autosomal Dominant

Human phenotypes related to Myopia 25, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 high myopia 31 HP:0011003

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
high myopia
increased axial lengths of eye globes

Clinical features from OMIM:

617238

Drugs & Therapeutics for Myopia 25, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myopia 25, Autosomal Dominant

Genetic Tests for Myopia 25, Autosomal Dominant

Genetic tests related to Myopia 25, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Myopia 25, Autosomal Dominant 29 P4HA2

Anatomical Context for Myopia 25, Autosomal Dominant

MalaCards organs/tissues related to Myopia 25, Autosomal Dominant:

40
Retina, Eye

Publications for Myopia 25, Autosomal Dominant

Articles related to Myopia 25, Autosomal Dominant:

# Title Authors PMID Year
1
Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. 56 6
25741866 2015
2
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation. 61
29364500 2018

Variations for Myopia 25, Autosomal Dominant

ClinVar genetic disease variations for Myopia 25, Autosomal Dominant:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 P4HA2 NM_004199.3(P4HA2):c.871G>A (p.Glu291Lys)SNV Pathogenic 372165 rs758872875 5:131544863-131544863 5:132209170-132209170
2 P4HA2 NM_004199.3(P4HA2):c.419A>G (p.Gln140Arg)SNV Pathogenic 372166 rs764211125 5:131549659-131549659 5:132213966-132213966
3 P4HA2 NM_004199.3(P4HA2):c.1350_1351TG[1] (p.Val451fs)short repeat Pathogenic 372167 rs1135402746 5:131533917-131533918 5:132198224-132198225

UniProtKB/Swiss-Prot genetic disease variations for Myopia 25, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 P4HA2 p.Gln140Arg VAR_074026 rs764211125
2 P4HA2 p.Glu291Lys VAR_074028 rs758872875

Expression for Myopia 25, Autosomal Dominant

Search GEO for disease gene expression data for Myopia 25, Autosomal Dominant.

Pathways for Myopia 25, Autosomal Dominant

GO Terms for Myopia 25, Autosomal Dominant

Sources for Myopia 25, Autosomal Dominant

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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