MCID: MCR219
MIFTS: 21

Microphthalmia, Isolated 8

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

Aliases & Classifications for Microphthalmia, Isolated 8

MalaCards integrated aliases for Microphthalmia, Isolated 8:

Name: Microphthalmia, Isolated 8 57 29 13 6 73
Mcop8 57 12 75
Microphthalmia, Isolated, Type 8 40
Microphthalmia, Isolated, 8 75
Isolated Microphthalmia 8 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microphthalmia, isolated 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615113
Disease Ontology 12 DOID:0060841
ICD10 33 Q11.0
MeSH 44 D008850
UMLS 73 C3554524

Summaries for Microphthalmia, Isolated 8

UniProtKB/Swiss-Prot : 75 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, is also known as mcop8. 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 microphthalmia

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

Description from OMIM: 615113

Related Diseases for Microphthalmia, Isolated 8

Symptoms & Phenotypes for Microphthalmia, Isolated 8

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

615113

Human phenotypes related to Microphthalmia, Isolated 8:

32
# Description HPO Frequency HPO Source Accession
1 retinal detachment 32 occasional (7.5%) HP:0000541
2 microphthalmia 32 HP:0000568
3 coloboma 32 occasional (7.5%) HP:0000589
4 optic nerve hypoplasia 32 HP:0000609
5 entropion 32 occasional (7.5%) HP:0000621

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:

41
Eye, Retina

Publications for Microphthalmia, Isolated 8

Variations for Microphthalmia, Isolated 8

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

75
# 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

ClinVar genetic disease variations for Microphthalmia, Isolated 8:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH1A3 NM_000693.3(ALDH1A3): c.265C> T (p.Arg89Cys) single nucleotide variant Pathogenic rs397514652 GRCh37 Chromosome 15, 101427837: 101427837
2 ALDH1A3 NM_000693.3(ALDH1A3): c.265C> T (p.Arg89Cys) single nucleotide variant Pathogenic rs397514652 GRCh38 Chromosome 15, 100887632: 100887632
3 ALDH1A3 NM_000693.3(ALDH1A3): c.1477G> C (p.Ala493Pro) single nucleotide variant Pathogenic rs397514653 GRCh37 Chromosome 15, 101454916: 101454916
4 ALDH1A3 NM_000693.3(ALDH1A3): c.1477G> C (p.Ala493Pro) single nucleotide variant Pathogenic rs397514653 GRCh38 Chromosome 15, 100914711: 100914711
5 ALDH1A3 NM_000693.3(ALDH1A3): c.475+1G> T single nucleotide variant Pathogenic rs78931658 GRCh37 Chromosome 15, 101432845: 101432845
6 ALDH1A3 NM_000693.3(ALDH1A3): c.475+1G> T single nucleotide variant Pathogenic rs78931658 GRCh38 Chromosome 15, 100892640: 100892640
7 ALDH1A3 NM_000693.3(ALDH1A3): c.43A> G (p.Arg15Gly) single nucleotide variant Benign/Likely benign rs1130737 GRCh37 Chromosome 15, 101420155: 101420155
8 ALDH1A3 NM_000693.3(ALDH1A3): c.43A> G (p.Arg15Gly) single nucleotide variant Benign/Likely benign rs1130737 GRCh38 Chromosome 15, 100879950: 100879950
9 ALDH1A3 NM_000693.3(ALDH1A3): c.690G> A (p.Val230=) single nucleotide variant Likely benign rs61757679 GRCh37 Chromosome 15, 101436161: 101436161
10 ALDH1A3 NM_000693.3(ALDH1A3): c.690G> A (p.Val230=) single nucleotide variant Likely benign rs61757679 GRCh38 Chromosome 15, 100895956: 100895956
11 ALDH1A3 NM_000693.3(ALDH1A3): c.204+5A> C single nucleotide variant Benign rs74386167 GRCh38 Chromosome 15, 100885376: 100885376
12 ALDH1A3 NM_000693.3(ALDH1A3): c.204+5A> C single nucleotide variant Benign rs74386167 GRCh37 Chromosome 15, 101425581: 101425581

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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