MYP21
MCID: MYP070
MIFTS: 20

Myopia 21, Autosomal Dominant (MYP21)

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

Aliases & Classifications for Myopia 21, Autosomal Dominant

MalaCards integrated aliases for Myopia 21, Autosomal Dominant:

Name: Myopia 21, Autosomal Dominant 56 73 29 13 6 71
Myp21 56 73
Myopia, Type 21, Autosomal Dominant 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease before 7 years of age


HPO:

31
myopia 21, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614167
OMIM Phenotypic Series 56 PS160700
MeSH 43 D009216
MedGen 41 C3279997
SNOMED-CT via HPO 68 263681008 34187009
UMLS 71 C3279997

Summaries for Myopia 21, 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. (614167)

MalaCards based summary : Myopia 21, Autosomal Dominant, is also known as myp21. An important gene associated with Myopia 21, Autosomal Dominant is ZNF644 (Zinc Finger Protein 644). Affiliated tissues include retina and eye, and related phenotype is high myopia.

UniProtKB/Swiss-Prot : 73 Myopia 21, 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 21, Autosomal Dominant

Symptoms & Phenotypes for Myopia 21, Autosomal Dominant

Human phenotypes related to Myopia 21, 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, severe
tigroid appearance of fundus (in some patients)
tesselated appearance of fundus (in some patients)
myopic conus (in some patients)

Clinical features from OMIM:

614167

Drugs & Therapeutics for Myopia 21, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myopia 21, Autosomal Dominant

Genetic Tests for Myopia 21, Autosomal Dominant

Genetic tests related to Myopia 21, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Myopia 21, Autosomal Dominant 29 ZNF644

Anatomical Context for Myopia 21, Autosomal Dominant

MalaCards organs/tissues related to Myopia 21, Autosomal Dominant:

40
Retina, Eye

Publications for Myopia 21, Autosomal Dominant

Articles related to Myopia 21, Autosomal Dominant:

# Title Authors PMID Year
1
Exome sequencing identifies ZNF644 mutations in high myopia. 6 56
21695231 2011
2
Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. 56
22539872 2012

Variations for Myopia 21, Autosomal Dominant

ClinVar genetic disease variations for Myopia 21, Autosomal Dominant:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF644 NM_201269.3(ZNF644):c.2014A>G (p.Ser672Gly)SNV Pathogenic 31107 rs387907109 1:91404897-91404897 1:90939340-90939340
2 ZNF644 NM_201269.3(ZNF644):c.1759A>G (p.Ile587Val)SNV Pathogenic 31108 rs146936371 1:91405152-91405152 1:90939595-90939595
3 ZNF644 NM_201269.3(ZNF644):c.*592G>ASNV Pathogenic 31109 rs587776903 1:91381763-91381763 1:90916206-90916206

UniProtKB/Swiss-Prot genetic disease variations for Myopia 21, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 ZNF644 p.Ile587Val VAR_066389 rs146936371
2 ZNF644 p.Ser672Gly VAR_066390 rs387907109
3 ZNF644 p.Arg680Gly VAR_066391
4 ZNF644 p.Cys699Tyr VAR_066392

Expression for Myopia 21, Autosomal Dominant

Search GEO for disease gene expression data for Myopia 21, Autosomal Dominant.

Pathways for Myopia 21, Autosomal Dominant

GO Terms for Myopia 21, Autosomal Dominant

Sources for Myopia 21, 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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