MCID: MCR114
MIFTS: 21

Microphthalmia, Isolated 3

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

Aliases & Classifications for Microphthalmia, Isolated 3

MalaCards integrated aliases for Microphthalmia, Isolated 3:

Name: Microphthalmia, Isolated 3 57 29 13 6 73
Mcop3 57 12 75
Microphthalmia, Isolated, Type 3 40
Isolated Clinical Anophthalmia 75
Microphthalmia, Isolated, 3 75
Isolated Microphthalmia 3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microphthalmia, isolated 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611038
Disease Ontology 12 DOID:0060842
ICD10 33 Q11.0
MedGen 42 C1970237
MeSH 44 D008850
UMLS 73 C1970237

Summaries for Microphthalmia, Isolated 3

UniProtKB/Swiss-Prot : 75 Microphthalmia, isolated, 3: 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 3, also known as mcop3, is related to microphthalmia, isolated 2 and microphthalmia, isolated 4. An important gene associated with Microphthalmia, Isolated 3 is RAX (Retina And Anterior Neural Fold Homeobox). Affiliated tissues include eye and retina, and related phenotypes are anophthalmia and microphthalmia

Disease Ontology : 12 A microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has material basis in compound heterozygous mutation in the RAX gene on chromosome 18q21.

Description from OMIM: 611038

Related Diseases for Microphthalmia, Isolated 3

Diseases in the Microphthalmia, Isolated 5 family:

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

Diseases related to Microphthalmia, Isolated 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 2 11.2
2 microphthalmia, isolated 4 11.2
3 microphthalmia, syndromic 9 11.0

Symptoms & Phenotypes for Microphthalmia, Isolated 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
anophthalmia, clinical
microphthalmia
ankyloblepharon
sclerocornea


Clinical features from OMIM:

611038

Human phenotypes related to Microphthalmia, Isolated 3:

32
# Description HPO Frequency HPO Source Accession
1 anophthalmia 32 HP:0000528
2 microphthalmia 32 HP:0000568
3 sclerocornea 32 HP:0000647
4 ankyloblepharon 32 HP:0009755

Drugs & Therapeutics for Microphthalmia, Isolated 3

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 3

Genetic Tests for Microphthalmia, Isolated 3

Genetic tests related to Microphthalmia, Isolated 3:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 3 29 RAX

Anatomical Context for Microphthalmia, Isolated 3

MalaCards organs/tissues related to Microphthalmia, Isolated 3:

41
Eye, Retina

Publications for Microphthalmia, Isolated 3

Variations for Microphthalmia, Isolated 3

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 3:

75
# Symbol AA change Variation ID SNP ID
1 RAX p.Arg192Gln VAR_034905 rs121909127

ClinVar genetic disease variations for Microphthalmia, Isolated 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAX NM_013435.2(RAX): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs104894663 GRCh37 Chromosome 18, 56939697: 56939697
2 RAX NM_013435.2(RAX): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs104894663 GRCh38 Chromosome 18, 59272465: 59272465
3 RAX NM_013435.2(RAX): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121909127 GRCh37 Chromosome 18, 56936702: 56936702
4 RAX NM_013435.2(RAX): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121909127 GRCh38 Chromosome 18, 59269470: 59269470
5 RAX RAX, 1-BP DEL, 664T deletion Pathogenic
6 RAX NM_013435.2(RAX): c.909C> G (p.Tyr303Ter) single nucleotide variant Pathogenic rs121909128 GRCh37 Chromosome 18, 56936368: 56936368
7 RAX NM_013435.2(RAX): c.909C> G (p.Tyr303Ter) single nucleotide variant Pathogenic rs121909128 GRCh38 Chromosome 18, 59269136: 59269136
8 RAX NM_013435.2(RAX): c.729C> A (p.Ser243=) single nucleotide variant Likely benign rs777929939 GRCh38 Chromosome 18, 59269316: 59269316
9 RAX NM_013435.2(RAX): c.729C> A (p.Ser243=) single nucleotide variant Likely benign rs777929939 GRCh37 Chromosome 18, 56936548: 56936548

Expression for Microphthalmia, Isolated 3

Search GEO for disease gene expression data for Microphthalmia, Isolated 3.

Pathways for Microphthalmia, Isolated 3

GO Terms for Microphthalmia, Isolated 3

Sources for Microphthalmia, Isolated 3

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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