Microphthalmia, Isolated, with Coloboma 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 7

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 7:

Name: Microphthalmia, Isolated, with Coloboma 7 ⁵⁷ ²⁹ ¹³ ⁶ ⁷³

Mcopcb7 ⁵⁷ ⁷⁵

Microphthalmia, Isolated, with Coloboma, Type 7 ⁴⁰

Microphthalmia, Isolated, with Coloboma, 7 ⁷⁵

Isolated Colobomatous Microphthalmia 7 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

microphthalmia, isolated, with coloboma 7:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614497

MedGen ⁴² C3281027

MeSH ⁴⁴ D003103 D008850

SNOMED-CT via HPO ⁶⁹ 263681008 204108000 61142002 more

UMLS ⁷³ C3281027

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Summaries for Microphthalmia, Isolated, with Coloboma 7

UniProtKB/Swiss-Prot : ⁷⁵ Microphthalmia, isolated, with coloboma, 7: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 7, is also known as mcopcb7. An important gene associated with Microphthalmia, Isolated, with Coloboma 7 is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)). Affiliated tissues include retina and eye, and related phenotypes are microphthalmia and coloboma

Description from OMIM: 614497

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Related Diseases for Microphthalmia, Isolated, with Coloboma 7

Diseases in the Microphthalmia, Isolated, with Coloboma 3 family:

Microphthalmia, Isolated, with Coloboma 4	Microphthalmia, Isolated, with Coloboma 1
Microphthalmia, Isolated, with Coloboma 2	Microphthalmia, Isolated, with Coloboma 5
Microphthalmia, Isolated, with Coloboma 6	Microphthalmia, Isolated, with Coloboma 7
Microphthalmia, Isolated, with Coloboma 9	Microphthalmia, Isolated, with Coloboma 10

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Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
coloboma, iris
coloboma, chorioretinal
microphthalmia (in some patients)

Clinical features from OMIM:

614497

Human phenotypes related to Microphthalmia, Isolated, with Coloboma 7:

³²

#	Description	HPO Frequency	HPO Source Accession
1	microphthalmia ³²	occasional (7.5%)	HP:0000568
2	coloboma ³²		HP:0000589

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Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 7

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 7

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Genetic Tests for Microphthalmia, Isolated, with Coloboma 7

Genetic tests related to Microphthalmia, Isolated, with Coloboma 7:

#	Genetic test	Affiliating Genes
1	Microphthalmia, Isolated, with Coloboma 7 ²⁹	ABCB6

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Anatomical Context for Microphthalmia, Isolated, with Coloboma 7

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 7:

⁴¹

Retina, Eye

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Publications for Microphthalmia, Isolated, with Coloboma 7

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Genes for Microphthalmia, Isolated, with Coloboma 7

Genes related to Microphthalmia, Isolated, with Coloboma 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCB6	ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)	Protein Coding	1328.5	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22226084 19504436
2	ZFAND2B	Zinc Finger AN1-Type Containing 2B	Protein Coding	7.88	GeneCards inferred via : Variants (show sections)

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Variations for Microphthalmia, Isolated, with Coloboma 7

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated, with Coloboma 7:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ABCB6	p.Leu811Val	VAR_067395	rs387906910

ClinVar genetic disease variations for Microphthalmia, Isolated, with Coloboma 7:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ABCB6	NM_005689.3(ABCB6): c.2431C> G (p.Leu811Val)	single nucleotide variant	Pathogenic	rs387906910	GRCh37	Chromosome 2, 220074758: 220074758
2	ABCB6	NM_005689.3(ABCB6): c.2431C> G (p.Leu811Val)	single nucleotide variant	Pathogenic	rs387906910	GRCh38	Chromosome 2, 219210036: 219210036
3	ABCB6	NM_005689.3(ABCB6): c.169G> A (p.Ala57Thr)	single nucleotide variant	Pathogenic	rs387906911	GRCh37	Chromosome 2, 220083227: 220083227
4	ABCB6	NM_005689.3(ABCB6): c.169G> A (p.Ala57Thr)	single nucleotide variant	Pathogenic	rs387906911	GRCh38	Chromosome 2, 219218505: 219218505

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Expression for Microphthalmia, Isolated, with Coloboma 7

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 7.

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Pathways for Microphthalmia, Isolated, with Coloboma 7

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GO Terms for Microphthalmia, Isolated, with Coloboma 7

Cellular components related to Microphthalmia, Isolated, with Coloboma 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum	GO:0005783	8.62	ABCB6 ZFAND2B

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Sources for Microphthalmia, Isolated, with Coloboma 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

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⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia