MYP18
MCID: MYP133
MIFTS: 18

Myopia 18, Autosomal Recessive (MYP18)

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

Aliases & Classifications for Myopia 18, Autosomal Recessive

MalaCards integrated aliases for Myopia 18, Autosomal Recessive:

Name: Myopia 18, Autosomal Recessive 56 71
Myopia 18 56 13
Myp18 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
myopia 18, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 255500
OMIM Phenotypic Series 56 PS160700
MedGen 41 C2749509
SNOMED-CT via HPO 68 258211005 57190000
UMLS 71 C2749509

Summaries for Myopia 18, Autosomal Recessive

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. (255500)

MalaCards based summary : Myopia 18, Autosomal Recessive, also known as myopia 18, is related to myopia. An important gene associated with Myopia 18, Autosomal Recessive is MYP18 (Myopia 18 (High Grade, Autosomal Recessive)). Affiliated tissues include retina and eye, and related phenotype is myopia.

Related Diseases for Myopia 18, Autosomal Recessive

Symptoms & Phenotypes for Myopia 18, Autosomal Recessive

Human phenotypes related to Myopia 18, Autosomal Recessive:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
myopia, infantile

Clinical features from OMIM:

255500

Drugs & Therapeutics for Myopia 18, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Association Between Breastfeeding and Likelihood of Myopia in 6-7 Years Old Children Completed NCT01013493
2 Clinical Study Of Nearsightedness, TReatment With Orthokeratology Lenses 2 Enrolling by invitation NCT03774992

Search NIH Clinical Center for Myopia 18, Autosomal Recessive

Genetic Tests for Myopia 18, Autosomal Recessive

Anatomical Context for Myopia 18, Autosomal Recessive

MalaCards organs/tissues related to Myopia 18, Autosomal Recessive:

40
Retina, Eye

Publications for Myopia 18, Autosomal Recessive

Articles related to Myopia 18, Autosomal Recessive:

# Title Authors PMID Year
1
Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia. 56
19204786 2009
2
Autosomal recessive inheritance of myopia in Hong Kong Chinese infants. 56
1766686 1991
3
Evidence of recessive inheritance of myopia. 56
1139789 1975
4
HEREDITARY ABNORMALITIES OF THE EYE: VII. INHERITABLE DEFECTS INVOLVING EYE MUSCLES, REFRACTION, ETC. 56
20316625 1927
5
Unilateral spontaneous filtering bleb dissecting into the cornea in a patient with high myopia. 61
31530022 2019
6
Ocular alignment and refraction in preterm children at 1 and 6 years old. 61
25061274 2014
7
Long-term follow-up of first-generation posterior chamber phakic intraocular lens. 61
20692576 2010
8
Surgical treatment of heavy eye syndrome; report of two cases. 61
23198082 2009
9
Photorefractive keratectomy for myopia: 18-month results in 178 eyes. 61
8499356 1993

Variations for Myopia 18, Autosomal Recessive

Expression for Myopia 18, Autosomal Recessive

Search GEO for disease gene expression data for Myopia 18, Autosomal Recessive.

Pathways for Myopia 18, Autosomal Recessive

GO Terms for Myopia 18, Autosomal Recessive

Sources for Myopia 18, Autosomal Recessive

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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