MYP26
MCID: MYP135
MIFTS: 17

Myopia 26, X-Linked, Female-Limited (MYP26)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Myopia 26, X-Linked, Female-Limited

MalaCards integrated aliases for Myopia 26, X-Linked, Female-Limited:

Name: Myopia 26, X-Linked, Female-Limited 56 73 29 6
Myp26 56 73
Myopia, Type 26, X-Linked, Female-Limited 39

Characteristics:

OMIM:

56
Inheritance:
x-linked (female limited)

Miscellaneous:
onset before 7 years of age
phenotype is female-limited (hemizygous males are unaffected)


HPO:

31
myopia 26, x-linked, female-limited:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 56 301010
OMIM Phenotypic Series 56 PS160700
MeSH 43 D009216
SNOMED-CT via HPO 68 263934009 34187009

Summaries for Myopia 26, X-Linked, Female-Limited

UniProtKB/Swiss-Prot : 73 Myopia 26, X-linked, female-limited: 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. MYP26 is characterized by typical tigroid fundus changes commonly seen in early onset high myopia, and an unusual pattern of X-linked female-limited inheritance.

MalaCards based summary : Myopia 26, X-Linked, Female-Limited, is also known as myp26. An important gene associated with Myopia 26, X-Linked, Female-Limited is ARR3 (Arrestin 3). Affiliated tissues include retina and eye, and related phenotype is high myopia.

OMIM : 56 X-linked myopia-26 is characterized by female-limited early-onset high myopia. The fundus of affected individuals shows a tigroid appearance, and there is a temporal crescent of the optic nerve head (Xiao et al., 2016). For a discussion of genetic heterogeneity of myopia, see 160700. (301010)

Related Diseases for Myopia 26, X-Linked, Female-Limited

Symptoms & Phenotypes for Myopia 26, X-Linked, Female-Limited

Human phenotypes related to Myopia 26, X-Linked, Female-Limited:

31
# Description HPO Frequency HPO Source Accession
1 high myopia 31 very rare (1%) HP:0011003

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
severe nearsightedness in early childhood
spherical refraction equal to or greater than -6.00 in each meridian
axial length greater than 26.00 mm
tigroid appearance of posterior retina
temporal crescent of optic nerve head

Clinical features from OMIM:

301010

Drugs & Therapeutics for Myopia 26, X-Linked, Female-Limited

Search Clinical Trials , NIH Clinical Center for Myopia 26, X-Linked, Female-Limited

Genetic Tests for Myopia 26, X-Linked, Female-Limited

Genetic tests related to Myopia 26, X-Linked, Female-Limited:

# Genetic test Affiliating Genes
1 Myopia 26, X-Linked, Female-Limited 29 ARR3

Anatomical Context for Myopia 26, X-Linked, Female-Limited

MalaCards organs/tissues related to Myopia 26, X-Linked, Female-Limited:

40
Retina, Eye

Publications for Myopia 26, X-Linked, Female-Limited

Articles related to Myopia 26, X-Linked, Female-Limited:

# Title Authors PMID Year
1
X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia. 6 56
27829781 2016

Variations for Myopia 26, X-Linked, Female-Limited

ClinVar genetic disease variations for Myopia 26, X-Linked, Female-Limited:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARR3 NM_004312.3(ARR3):c.893C>A (p.Ala298Asp)SNV Pathogenic 478824 rs765658563 X:69498479-69498479 X:70278629-70278629
2 ARR3 NM_004312.3(ARR3):c.298C>T (p.Arg100Ter)SNV Pathogenic 478825 rs1555941129 X:69496084-69496084 X:70276234-70276234
3 ARR3 NM_004312.3(ARR3):c.239T>C (p.Leu80Pro)SNV Pathogenic 478826 rs1555941116 X:69496025-69496025 X:70276175-70276175

Expression for Myopia 26, X-Linked, Female-Limited

Search GEO for disease gene expression data for Myopia 26, X-Linked, Female-Limited.

Pathways for Myopia 26, X-Linked, Female-Limited

GO Terms for Myopia 26, X-Linked, Female-Limited

Sources for Myopia 26, X-Linked, Female-Limited

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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