MYP27
MCID: MYP162
MIFTS: 22

Myopia 27 (MYP27)

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

Aliases & Classifications for Myopia 27

MalaCards integrated aliases for Myopia 27:

Name: Myopia 27 57 72 6
Myp27 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
high myopia diagnosed in early childhood


HPO:

31
myopia 27:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618827
OMIM Phenotypic Series 57 PS160700
MeSH 44 D009216
SNOMED-CT via HPO 68 263681008 34187009

Summaries for Myopia 27

UniProtKB/Swiss-Prot : 72 Myopia 27: A form of myopia, 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. MYP27 patients are affected by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina.

MalaCards based summary : Myopia 27, also known as myp27, is related to myopia. An important gene associated with Myopia 27 is CPSF1 (Cleavage And Polyadenylation Specific Factor 1), and among its related pathways/superpathways are Formation of HIV-1 elongation complex containing HIV-1 Tat and Transport of the SLBP independent Mature mRNA. Affiliated tissues include retina and eye, and related phenotypes are increased axial length of the globe and high myopia

OMIM® : 57 Myopia-27 (MYP27) is characterized by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina (Ouyang et al., 2019). (618827) (Updated 20-May-2021)

Related Diseases for Myopia 27

Symptoms & Phenotypes for Myopia 27

Human phenotypes related to Myopia 27:

31
# Description HPO Frequency HPO Source Accession
1 increased axial length of the globe 31 very rare (1%) HP:0007800
2 high myopia 31 very rare (1%) HP:0011003

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
tigroid appearance of posterior retina
high myopia, early-onset
increased axial lengths
optic nerve head crescent

Clinical features from OMIM®:

618827 (Updated 20-May-2021)

Drugs & Therapeutics for Myopia 27

Search Clinical Trials , NIH Clinical Center for Myopia 27

Genetic Tests for Myopia 27

Anatomical Context for Myopia 27

MalaCards organs/tissues related to Myopia 27:

40
Retina, Eye

Publications for Myopia 27

Articles related to Myopia 27:

# Title Authors PMID Year
1
CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection. 6 57
30689892 2019
2
Correlation between presence of primary iris- and cilliary body cysts and intraocular pressure. 61
29028106 2017

Variations for Myopia 27

ClinVar genetic disease variations for Myopia 27:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPSF1 NM_013291.3(CPSF1):c.4146-2A>G SNV Pathogenic 829510 rs782555528 GRCh37: 8:145618807-145618807
GRCh38: 8:144393592-144393592
2 CPSF1 , MIR939 NM_013291.3(CPSF1):c.3823G>T (p.Asp1275Tyr) SNV Pathogenic 829512 rs1554862601 GRCh37: 8:145619364-145619364
GRCh38: 8:144394149-144394149
3 CPSF1 NM_013291.3(CPSF1):c.1858C>T (p.Gln620Ter) SNV Pathogenic 829514 rs1586620121 GRCh37: 8:145623728-145623728
GRCh38: 8:144398338-144398338
4 CPSF1 NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs) Deletion Pathogenic 829516 rs782640869 GRCh37: 8:145621815-145621816
GRCh38: 8:144396600-144396601

Expression for Myopia 27

Search GEO for disease gene expression data for Myopia 27.

Pathways for Myopia 27

Pathways related to Myopia 27 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 MIR939 CPSF1
2
Show member pathways
12.39 MIR939 CPSF1
3
Show member pathways
12.29 MIR939 CPSF1
4
Show member pathways
11.63 MIR939 CPSF1
5
Show member pathways
11.47 MIR939 CPSF1
6
Show member pathways
11.17 MIR939 CPSF1
7
Show member pathways
10.5 MIR939 CPSF1

GO Terms for Myopia 27

Sources for Myopia 27

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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