Myopia 25, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Myopia 25, Autosomal Dominant

MalaCards integrated aliases for Myopia 25, Autosomal Dominant:

Name: Myopia 25, Autosomal Dominant ⁵⁶ ⁷³ ²⁹ ⁶

Myp25 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
onset of myopia by age 10 years

HPO:

³¹

myopia 25, autosomal dominant:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 617238

OMIM Phenotypic Series ⁵⁶ PS160700

MeSH ⁴³ D009216

MedGen ⁴¹ C4310655 CN239544

SNOMED-CT via HPO ⁶⁸ 263681008 34187009

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Summaries for Myopia 25, 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. (617238)

MalaCards based summary : Myopia 25, Autosomal Dominant, is also known as myp25. An important gene associated with Myopia 25, Autosomal Dominant is P4HA2 (Prolyl 4-Hydroxylase Subunit Alpha 2). Affiliated tissues include retina and eye, and related phenotype is high myopia.

UniProtKB/Swiss-Prot : ⁷³ Myopia 25, 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.

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Related Diseases for Myopia 25, Autosomal Dominant

Diseases in the Myopia family:

Myopia 2, Autosomal Dominant	Myopia 18, Autosomal Recessive
Myopia 3, Autosomal Dominant	Myopia 17, Autosomal Dominant
Myopia 5, Autosomal Dominant	Myopia 6
Myopia 7	Myopia 8
Myopia 9	Myopia 10
Myopia 11, Autosomal Dominant	Myopia 12, Autosomal Dominant
Myopia 14	Myopia 16, Autosomal Dominant
Myopia 15, Autosomal Dominant	Myopia 19, Autosomal Dominant
Myopia 20, Autosomal Dominant	Myopia 21, Autosomal Dominant
Myopia 22, Autosomal Dominant	Myopia 23, Autosomal Recessive
Myopia 24, Autosomal Dominant	Myopia 25, Autosomal Dominant
Myopia 27

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Symptoms & Phenotypes for Myopia 25, Autosomal Dominant

Human phenotypes related to Myopia 25, 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
increased axial lengths of eye globes

Clinical features from OMIM:

617238

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Drugs & Therapeutics for Myopia 25, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myopia 25, Autosomal Dominant

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Genetic Tests for Myopia 25, Autosomal Dominant

Genetic tests related to Myopia 25, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Myopia 25, Autosomal Dominant ²⁹	P4HA2

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Anatomical Context for Myopia 25, Autosomal Dominant

MalaCards organs/tissues related to Myopia 25, Autosomal Dominant:

⁴⁰

Retina, Eye

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Publications for Myopia 25, Autosomal Dominant

Articles related to Myopia 25, Autosomal Dominant:

#	Title	Authors	PMID	Year
1	Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. ⁵⁶ ⁶	Guo H...Xia K	25741866	2015
2	Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation. ⁶¹	Napolitano F...Sampaolo S	29364500	2018

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Genes for Myopia 25, Autosomal Dominant

Genes related to Myopia 25, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	P4HA2	Prolyl 4-Hydroxylase Subunit Alpha 2	Protein Coding	1317.69	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25741866

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Variations for Myopia 25, Autosomal Dominant

ClinVar genetic disease variations for Myopia 25, Autosomal Dominant:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	P4HA2	NM_004199.3(P4HA2):c.871G>A (p.Glu291Lys)	SNV	Pathogenic	372165	rs758872875	5:131544863-131544863	5:132209170-132209170
2	P4HA2	NM_004199.3(P4HA2):c.419A>G (p.Gln140Arg)	SNV	Pathogenic	372166	rs764211125	5:131549659-131549659	5:132213966-132213966
3	P4HA2	NM_004199.3(P4HA2):c.1350_1351TG[1] (p.Val451fs)	short repeat	Pathogenic	372167	rs1135402746	5:131533917-131533918	5:132198224-132198225

UniProtKB/Swiss-Prot genetic disease variations for Myopia 25, Autosomal Dominant:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	P4HA2	p.Gln140Arg	VAR_074026	rs764211125
2	P4HA2	p.Glu291Lys	VAR_074028	rs758872875

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Expression for Myopia 25, Autosomal Dominant

Search GEO for disease gene expression data for Myopia 25, Autosomal Dominant.

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Pathways for Myopia 25, Autosomal Dominant

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GO Terms for Myopia 25, Autosomal Dominant

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Sources for Myopia 25, Autosomal Dominant

¹ BioSystems

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⁴ Cell Signaling Technology

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

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⁵¹ NIH Clinical Center

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Myopia 25, Autosomal Dominant (MYP25)

Aliases & Classifications for Myopia 25, Autosomal Dominant

MalaCards integrated aliases for Myopia 25, Autosomal Dominant:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Myopia 25, Autosomal Dominant

Related Diseases for Myopia 25, Autosomal Dominant

Diseases in the Myopia family:

Symptoms & Phenotypes for Myopia 25, Autosomal Dominant

Human phenotypes related to Myopia 25, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Myopia 25, Autosomal Dominant

Genetic Tests for Myopia 25, Autosomal Dominant

Genetic tests related to Myopia 25, Autosomal Dominant:

Anatomical Context for Myopia 25, Autosomal Dominant

MalaCards organs/tissues related to Myopia 25, Autosomal Dominant:

Publications for Myopia 25, Autosomal Dominant

Articles related to Myopia 25, Autosomal Dominant:

Genes for Myopia 25, Autosomal Dominant

Genes related to Myopia 25, Autosomal Dominant (1 elite genes):

Variations for Myopia 25, Autosomal Dominant

ClinVar genetic disease variations for Myopia 25, Autosomal Dominant:

UniProtKB/Swiss-Prot genetic disease variations for Myopia 25, Autosomal Dominant:

Expression for Myopia 25, Autosomal Dominant

Pathways for Myopia 25, Autosomal Dominant

GO Terms for Myopia 25, Autosomal Dominant

Sources for Myopia 25, Autosomal Dominant