MCOP8
MCID: MCR219
MIFTS: 25

Microphthalmia, Isolated 8 (MCOP8)

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

Aliases & Classifications for Microphthalmia, Isolated 8

MalaCards integrated aliases for Microphthalmia, Isolated 8:

Name: Microphthalmia, Isolated 8 57 29 13 6 70
Mcop8 57 12 72
Microphthalmia, Isolated, Type 8 39
Microphthalmia, Isolated, 8 72
Isolated Microphthalmia 8 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
microphthalmia, isolated 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060841
OMIM® 57 615113
OMIM Phenotypic Series 57 PS251600
MeSH 44 D008850
ICD10 32 Q11.0
UMLS 70 C3554524

Summaries for Microphthalmia, Isolated 8

UniProtKB/Swiss-Prot : 72 Microphthalmia, isolated, 8: 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.

MalaCards based summary : Microphthalmia, Isolated 8, also known as mcop8, is related to microphthalmia and autism. An important gene associated with Microphthalmia, Isolated 8 is ALDH1A3 (Aldehyde Dehydrogenase 1 Family Member A3). Affiliated tissues include eye and retina, and related phenotypes are retinal detachment and coloboma

Disease Ontology : 12 An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has material basis in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.

More information from OMIM: 615113 PS251600

Related Diseases for Microphthalmia, Isolated 8

Diseases in the Isolated Microphthalmia family:

Microphthalmia, Isolated 1 Microphthalmia, Isolated 2
Microphthalmia, Isolated 3 Microphthalmia, Isolated 5
Microphthalmia, Isolated 4 Microphthalmia, Isolated 6
Microphthalmia, Isolated 7 Microphthalmia, Isolated 8

Diseases related to Microphthalmia, Isolated 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia 9.6 ALDH1A3-AS1 ALDH1A3
2 autism 9.5 ALDH1A3-AS1 ALDH1A3

Symptoms & Phenotypes for Microphthalmia, Isolated 8

Human phenotypes related to Microphthalmia, Isolated 8:

31
# Description HPO Frequency HPO Source Accession
1 retinal detachment 31 occasional (7.5%) HP:0000541
2 coloboma 31 occasional (7.5%) HP:0000589
3 entropion 31 occasional (7.5%) HP:0000621
4 microphthalmia 31 HP:0000568
5 optic nerve hypoplasia 31 HP:0000609

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypoplastic optic nerves
microphthalmia, severe, bilateral
cyst associated with dysplastic globe (in some patients)
hypoplastic optic chiasm
coloboma (in some patients)
more

Clinical features from OMIM®:

615113 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Isolated 8

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 8

Genetic Tests for Microphthalmia, Isolated 8

Genetic tests related to Microphthalmia, Isolated 8:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 8 29 ALDH1A3

Anatomical Context for Microphthalmia, Isolated 8

MalaCards organs/tissues related to Microphthalmia, Isolated 8:

40
Eye, Retina

Publications for Microphthalmia, Isolated 8

Articles related to Microphthalmia, Isolated 8:

# Title Authors PMID Year
1
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 57 6
23312594 2013
2
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. 57
23591992 2013

Variations for Microphthalmia, Isolated 8

ClinVar genetic disease variations for Microphthalmia, Isolated 8:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDH1A3 NM_000693.4(ALDH1A3):c.265C>T (p.Arg89Cys) SNV Pathogenic 40203 rs397514652 GRCh37: 15:101427837-101427837
GRCh38: 15:100887632-100887632
2 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.1477G>C (p.Ala493Pro) SNV Pathogenic 40204 rs397514653 GRCh37: 15:101454916-101454916
GRCh38: 15:100914711-100914711
3 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.475+1G>T SNV Pathogenic 40205 rs78931658 GRCh37: 15:101432845-101432845
GRCh38: 15:100892640-100892640
4 ALDH1A3 and overlap with 1 gene(s) NC_000015.9:g.(?_101420093)_(101454998_?)dup Duplication Uncertain significance 652391 GRCh37: 15:101420093-101454998
GRCh38: 15:100879888-100914793
5 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.964G>A (p.Val322Met) SNV Uncertain significance 653567 rs1596129599 GRCh37: 15:101440860-101440860
GRCh38: 15:100900655-100900655
6 ALDH1A3 NM_000693.4(ALDH1A3):c.123C>G (p.His41Gln) SNV Likely benign 772098 rs2229182 GRCh37: 15:101425495-101425495
GRCh38: 15:100885290-100885290
7 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.690G>A (p.Val230=) SNV Likely benign 473869 rs61757679 GRCh37: 15:101436161-101436161
GRCh38: 15:100895956-100895956
8 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.884-10C>T SNV Likely benign 714218 rs780602308 GRCh37: 15:101440770-101440770
GRCh38: 15:100900565-100900565
9 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.1143C>T (p.Cys381=) SNV Likely benign 724595 rs113661159 GRCh37: 15:101445802-101445802
GRCh38: 15:100905597-100905597
10 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.1386G>A (p.Thr462=) SNV Likely benign 770096 rs140128387 GRCh37: 15:101447478-101447478
GRCh38: 15:100907273-100907273
11 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.1407C>T (p.Asn469=) SNV Benign 772916 rs145659258 GRCh37: 15:101448628-101448628
GRCh38: 15:100908423-100908423
12 ALDH1A3 NM_000693.4(ALDH1A3):c.327G>A (p.Arg109=) SNV Benign 772186 rs146169888 GRCh37: 15:101427899-101427899
GRCh38: 15:100887694-100887694
13 ALDH1A3 NM_000693.4(ALDH1A3):c.204+5A>C SNV Benign 473868 rs74386167 GRCh37: 15:101425581-101425581
GRCh38: 15:100885376-100885376
14 ALDH1A3 NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) SNV Benign 235693 rs1130737 GRCh37: 15:101420155-101420155
GRCh38: 15:100879950-100879950
15 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.1134G>A (p.Lys378=) SNV Benign 707056 rs112582857 GRCh37: 15:101445793-101445793
GRCh38: 15:100905588-100905588
16 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.945G>T (p.Thr315=) SNV Benign 707363 rs2229183 GRCh37: 15:101440841-101440841
GRCh38: 15:100900636-100900636
17 ALDH1A3-AS1 , ALDH1A3 NM_000693.4(ALDH1A3):c.1107C>A (p.Ile369=) SNV Benign 707373 rs3803431 GRCh37: 15:101445766-101445766
GRCh38: 15:100905561-100905561

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 8:

72
# Symbol AA change Variation ID SNP ID
1 ALDH1A3 p.Arg89Cys VAR_069322 rs397514652
2 ALDH1A3 p.Ala145Val VAR_069323 rs754619607
3 ALDH1A3 p.Ile369Phe VAR_069324
4 ALDH1A3 p.Ala493Pro VAR_069325 rs397514653
5 ALDH1A3 p.Val71Met VAR_072332 rs386834230
6 ALDH1A3 p.Cys174Tyr VAR_072333
7 ALDH1A3 p.Pro355Arg VAR_072334
8 ALDH1A3 p.Gly382Arg VAR_072335
9 ALDH1A3 p.Glu411Lys VAR_072336
10 ALDH1A3 p.Asn466Lys VAR_072337

Expression for Microphthalmia, Isolated 8

Search GEO for disease gene expression data for Microphthalmia, Isolated 8.

Pathways for Microphthalmia, Isolated 8

GO Terms for Microphthalmia, Isolated 8

Sources for Microphthalmia, Isolated 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....