MYP24
MCID: MYP090
MIFTS: 18

Myopia 24, Autosomal Dominant (MYP24)

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

Aliases & Classifications for Myopia 24, Autosomal Dominant

MalaCards integrated aliases for Myopia 24, Autosomal Dominant:

Name: Myopia 24, Autosomal Dominant 56 73 29 6 71
Myp24 56 73
Myopia, Type 24, Autosomal Dominant 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset before 10 years of age in all patients


HPO:

31
myopia 24, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 615946
OMIM Phenotypic Series 56 PS160700
MeSH 43 D009216
SNOMED-CT via HPO 68 263681008 57190000
UMLS 71 C4014762

Summaries for Myopia 24, 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 myopia, see 160700. (615946)

MalaCards based summary : Myopia 24, Autosomal Dominant, is also known as myp24. An important gene associated with Myopia 24, Autosomal Dominant is SLC39A5 (Solute Carrier Family 39 Member 5). Affiliated tissues include retina and eye, and related phenotype is myopia.

UniProtKB/Swiss-Prot : 73 Myopia 24, 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 24, Autosomal Dominant

Symptoms & Phenotypes for Myopia 24, Autosomal Dominant

Human phenotypes related to Myopia 24, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
myopia, severe
increased axial length
tigroid fundus
focal atrophy of choroid

Clinical features from OMIM:

615946

Drugs & Therapeutics for Myopia 24, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myopia 24, Autosomal Dominant

Genetic Tests for Myopia 24, Autosomal Dominant

Genetic tests related to Myopia 24, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Myopia 24, Autosomal Dominant 29 SLC39A5

Anatomical Context for Myopia 24, Autosomal Dominant

MalaCards organs/tissues related to Myopia 24, Autosomal Dominant:

40
Retina, Eye

Publications for Myopia 24, Autosomal Dominant

Articles related to Myopia 24, Autosomal Dominant:

# Title Authors PMID Year
1
SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia. 56 6
24891338 2014

Variations for Myopia 24, Autosomal Dominant

ClinVar genetic disease variations for Myopia 24, Autosomal Dominant:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC39A5 NM_173596.3(SLC39A5):c.141C>G (p.Tyr47Ter)SNV Pathogenic 143991 rs199624584 12:56625199-56625199 12:56231415-56231415
2 SLC39A5 NM_173596.3(SLC39A5):c.911T>C (p.Met304Thr)SNV Pathogenic 143992 rs587777625 12:56629450-56629450 12:56235666-56235666

UniProtKB/Swiss-Prot genetic disease variations for Myopia 24, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 SLC39A5 p.Met304Thr VAR_071911 rs587777625

Expression for Myopia 24, Autosomal Dominant

Search GEO for disease gene expression data for Myopia 24, Autosomal Dominant.

Pathways for Myopia 24, Autosomal Dominant

GO Terms for Myopia 24, Autosomal Dominant

Sources for Myopia 24, 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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