MCID: ISL020
MIFTS: 23

Isolated Microphthalmia

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

Aliases & Classifications for Isolated Microphthalmia

MalaCards integrated aliases for Isolated Microphthalmia:

Name: Isolated Microphthalmia 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080637

Summaries for Isolated Microphthalmia

Disease Ontology : 12 A microphthalmia that occurs by itself.

MalaCards based summary : Isolated Microphthalmia is related to microphthalmia, isolated 1 and microphthalmia, isolated 6. An important gene associated with Isolated Microphthalmia is MCOP1 (Microphthalmia, Autosomal Recessive). Affiliated tissues include eye, and related phenotypes are Negative genetic interaction between BLM-/- and BLM+/+ and nervous system

Related Diseases for Isolated Microphthalmia

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 Isolated Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 1 32.1 VSX2 MCOP1 CRYBA4
2 microphthalmia, isolated 6 32.0 VSX2 PRSS56 MFRP
3 microphthalmia, isolated 3 31.3 VSX2 STRA6 RAX OTX2
4 microphthalmia, isolated 2 31.3 VSX2 STRA6 RAX OTX2
5 fryns microphthalmia syndrome 30.2 VSX2 OTX2
6 nanophthalmos 28.5 VSX2 SIX6 PRSS56 OTX2 MFRP FOXE3
7 microphthalmia 28.5 VSX2 STRA6 SIX6 RAX PRSS56 OTX2
8 microphthalmia, isolated 5 11.4
9 microphthalmia, isolated 4 11.4
10 microphthalmia, isolated 7 11.3
11 microphthalmia, isolated 8 11.3
12 cataract 23, multiple types 11.1
13 microphthalmia, isolated, with coloboma 9 11.0
14 leukocoria 10.1 VSX2 LRP5
15 complex chromosomal rearrangement 10.1 SIX6 OTX2
16 lens subluxation 10.0 VSX2 CRYBA4
17 microphthalmia, syndromic 6 10.0 RAX GDF6
18 congenital aphakia 10.0 VSX2 FOXE3
19 microphthalmia, syndromic 5 10.0 RAX OTX2
20 axenfeld-rieger syndrome, type 1 10.0 RAX FOXE3
21 optic nerve hypoplasia, bilateral 9.9 VSX2 SIX6 OTX2
22 sclerocornea 9.9 SIX6 RAX FOXE3
23 axenfeld-rieger syndrome 9.9 VSX2 RAX FOXE3
24 primary angle-closure glaucoma 9.8 VSX2 PRSS56
25 iris disease 9.8 OTX2 FOXE3
26 ras-associated autoimmune leukoproliferative disorder 9.8 STRA6 ALDH1A3
27 orbital cyst 9.8 RAX GDF6 FOXE3
28 osteoporosis 9.8
29 osteoporosis-pseudoglioma syndrome 9.8
30 bone mineral density quantitative trait locus 8 9.8
31 bone mineral density quantitative trait locus 15 9.8
32 myopia 9.8
33 refractive error 9.8
34 horseshoe kidney 9.8
35 microphthalmia, syndromic 1 9.8 VSX2 STRA6
36 esotropia 9.7 OTX2 FOXE3
37 linear skin defects with multiple congenital anomalies 1 9.7 RAX FOXE3
38 persistent hyperplastic primary vitreous 9.6 VSX2 OTX2 LRP5 FOXE3
39 amblyopia 9.6 PRSS56 OTX2 FOXE3
40 microphthalmia, syndromic 9 9.5 VSX2 STRA6 GDF6 ALDH1A3
41 microphthalmia, syndromic 8 9.5 VSX2 STRA6 RAX OTX2
42 cataract 9.4 VSX2 SIX6 OTX2 FOXE3 CRYBA4
43 peters-plus syndrome 9.4 VSX2 STRA6 GDF6 FOXE3
44 syndromic microphthalmia 9.3 VSX2 STRA6 SIX6 OTX2 CRYBA4
45 anterior segment dysgenesis 9.2 VSX2 SIX6 OTX2 GDF6 FOXE3 CRYBA4
46 aniridia 1 9.0 VSX2 SIX6 RAX OTX2 GDF6 FOXE3
47 colobomatous microphthalmia 9.0 VSX2 STRA6 RAX OTX2 GDF6 CRYBA4
48 microphthalmia, syndromic 3 8.8 VSX2 STRA6 SIX6 RAX OTX2 GDF6
49 fundus dystrophy 8.7 VSX2 STRA6 SIX6 PRSS56 OTX2 LRP5
50 coloboma of macula 8.4 VSX2 STRA6 SIX6 RAX OTX2 GDF6

Graphical network of the top 20 diseases related to Isolated Microphthalmia:



Diseases related to Isolated Microphthalmia

Symptoms & Phenotypes for Isolated Microphthalmia

GenomeRNAi Phenotypes related to Isolated Microphthalmia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 8.92 ALDH1A3 MFRP RAX SIX6

MGI Mouse Phenotypes related to Isolated Microphthalmia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 GDF6 LRP5 MFRP OTX2 PRSS56 RAX
2 craniofacial MP:0005382 9.73 ALDH1A3 GDF6 LRP5 OTX2 RAX STRA6
3 pigmentation MP:0001186 9.43 LRP5 MFRP OTX2 PRSS56 STRA6 VSX2
4 vision/eye MP:0005391 9.32 ALDH1A3 GDF6 LRP5 MFRP OTX2 PRSS56

Drugs & Therapeutics for Isolated Microphthalmia

Search Clinical Trials , NIH Clinical Center for Isolated Microphthalmia

Genetic Tests for Isolated Microphthalmia

Anatomical Context for Isolated Microphthalmia

MalaCards organs/tissues related to Isolated Microphthalmia:

40
Eye

Publications for Isolated Microphthalmia

Articles related to Isolated Microphthalmia:

(show all 18)
# Title Authors PMID Year
1
Rare Association of Isolated Microphthalmia with Anorectal Malformation. 61
33487943 2020
2
Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital. 61
30285524 2019
3
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. 61
28111184 2017
4
Hyperplastic primary vitreous with hemorrhage manifested as a hyperechoic mass in the fetal orbit by prenatal ultrasound in a case of isolated unilateral microphthalmia. 61
26217602 2015
5
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred. 61
23881059 2014
6
Surgical and prosthetic treatment for microphthalmia syndromes. 61
22464758 2013
7
Homozygous null mutation in ODZ3 causes microphthalmia in humans. 61
22766609 2012
8
VSX2 mutations in autosomal recessive microphthalmia. 61
21976963 2011
9
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. 61
21203406 2010
10
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. 61
20414678 2010
11
Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. 61
18334955 2008
12
Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18. 61
17652717 2007
13
Unilateral isolated microphthalmia inherited as an autosomal recessive trait. 61
16352476 2005
14
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 61
15257456 2004
15
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. 61
11035633 2000
16
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32. 61
10413693 1999
17
The descriptive epidemiology of anophthalmia and microphthalmia. 61
8921488 1996
18
Hereditary microphthalmia with colobomatous cyst. 61
1621783 1992

Variations for Isolated Microphthalmia

Expression for Isolated Microphthalmia

Search GEO for disease gene expression data for Isolated Microphthalmia.

Pathways for Isolated Microphthalmia

GO Terms for Isolated Microphthalmia

Cellular components related to Isolated Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 VSX2 SIX6 RAX OTX2 FOXE3

Biological processes related to Isolated Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.63 VSX2 SIX6 RAX OTX2 LRP5 GDF6
2 visual perception GO:0007601 9.35 VSX2 SIX6 RAX MFRP CRYBA4
3 eye development GO:0001654 9.32 SIX6 FOXE3
4 lens development in camera-type eye GO:0002088 9.26 FOXE3 CRYBA4
5 camera-type eye development GO:0043010 9.02 STRA6 RAX PRSS56 FOXE3 CRYBA4

Molecular functions related to Isolated Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 VSX2 SIX6 RAX OTX2 FOXE3
2 sequence-specific double-stranded DNA binding GO:1990837 8.92 VSX2 SIX6 RAX OTX2

Sources for Isolated Microphthalmia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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