MCOPS11
MCID: MCR217
MIFTS: 23

Microphthalmia, Syndromic 11 (MCOPS11)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Microphthalmia, Syndromic 11

MalaCards integrated aliases for Microphthalmia, Syndromic 11:

Name: Microphthalmia, Syndromic 11 57 29 13 6 70
Mcops11 57 12 72
Microphthalmia with Corpus Callosum Agenesis and Orofacial Clefting 72
Microphthalmia, Syndromic, Type 11 39
Microphthalmia, Syndromic, 11 72
Syndromic Microphthalmia 11 12

Characteristics:

OMIM®:

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


HPO:

31
microphthalmia, syndromic 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111804
OMIM® 57 614402
OMIM Phenotypic Series 57 PS309800
MeSH 44 D008850
UMLS 70 C3553077

Summaries for Microphthalmia, Syndromic 11

UniProtKB/Swiss-Prot : 72 Microphthalmia, syndromic, 11: A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

MalaCards based summary : Microphthalmia, Syndromic 11, is also known as mcops11. An important gene associated with Microphthalmia, Syndromic 11 is VAX1 (Ventral Anterior Homeobox 1). Affiliated tissues include eye and pineal, and related phenotypes are agenesis of corpus callosum and global developmental delay

Disease Ontology : 12 A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has material basis in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.

More information from OMIM: 614402 PS309800

Related Diseases for Microphthalmia, Syndromic 11

Symptoms & Phenotypes for Microphthalmia, Syndromic 11

Human phenotypes related to Microphthalmia, Syndromic 11:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 global developmental delay 31 HP:0001263
3 cleft palate 31 HP:0000175
4 cleft upper lip 31 HP:0000204
5 microphthalmia 31 HP:0000568
6 agenesis of pineal gland 31 HP:0012687

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
global developmental delay
agenesis of pineal gland
vertical orientation of hippocampus

Growth Weight:
weight in third centile

Head And Neck Eyes:
microphthalmia, severe, bilateral
small optic nerve, bilateral

Growth Height:
height in third centile

Head And Neck Head:
head circumference in third centile

Head And Neck Mouth:
cleft lip, bilateral
cleft palate, bilateral

Clinical features from OMIM®:

614402 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Syndromic 11

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 11

Genetic Tests for Microphthalmia, Syndromic 11

Genetic tests related to Microphthalmia, Syndromic 11:

# Genetic test Affiliating Genes
1 Microphthalmia, Syndromic 11 29 VAX1

Anatomical Context for Microphthalmia, Syndromic 11

MalaCards organs/tissues related to Microphthalmia, Syndromic 11:

40
Eye, Pineal

Publications for Microphthalmia, Syndromic 11

Articles related to Microphthalmia, Syndromic 11:

# Title Authors PMID Year
1
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. 6 57
22095910 2012

Variations for Microphthalmia, Syndromic 11

ClinVar genetic disease variations for Microphthalmia, Syndromic 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VAX1 NM_001112704.2(VAX1):c.454C>A (p.Arg152Ser) SNV Pathogenic 36954 rs387907252 GRCh37: 10:118894070-118894070
GRCh38: 10:117134559-117134559
2 VAX1 NM_001112704.2(VAX1):c.684_692dup (p.Ala231_Ala233dup) Duplication Uncertain significance 838114 GRCh37: 10:118893831-118893832
GRCh38: 10:117134320-117134321
3 VAX1 NM_001112704.2(VAX1):c.993dup (p.Ala332fs) Duplication Uncertain significance 473144 rs1554942640 GRCh37: 10:118893530-118893531
GRCh38: 10:117134019-117134020
4 VAX1 NM_001112704.2(VAX1):c.312dup (p.Thr105fs) Duplication Uncertain significance 473143 rs1554942980 GRCh37: 10:118896099-118896100
GRCh38: 10:117136588-117136589
5 VAX1 NM_001112704.2(VAX1):c.688G>A (p.Ala230Thr) SNV Likely benign 707040 rs571879048 GRCh37: 10:118893836-118893836
GRCh38: 10:117134325-117134325
6 VAX1 NM_001112704.2(VAX1):c.678C>T (p.Ala226=) SNV Likely benign 707045 rs534482978 GRCh37: 10:118893846-118893846
GRCh38: 10:117134335-117134335
7 VAX1 NM_001112704.2(VAX1):c.675G>T (p.Ser225=) SNV Likely benign 737771 rs1301499368 GRCh37: 10:118893849-118893849
GRCh38: 10:117134338-117134338
8 VAX1 NM_001112704.2(VAX1):c.621A>T (p.Ser207=) SNV Likely benign 771071 rs944388651 GRCh37: 10:118893903-118893903
GRCh38: 10:117134392-117134392
9 VAX1 NM_001112704.2(VAX1):c.642G>A (p.Leu214=) SNV Likely benign 283191 rs554140675 GRCh37: 10:118893882-118893882
GRCh38: 10:117134371-117134371
10 VAX1 NM_001112704.2(VAX1):c.126C>T (p.Ala42=) SNV Benign 766821 rs148630891 GRCh37: 10:118897442-118897442
GRCh38: 10:117137931-117137931

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Syndromic 11:

72
# Symbol AA change Variation ID SNP ID
1 VAX1 p.Arg152Ser VAR_067307 rs387907252

Expression for Microphthalmia, Syndromic 11

Search GEO for disease gene expression data for Microphthalmia, Syndromic 11.

Pathways for Microphthalmia, Syndromic 11

GO Terms for Microphthalmia, Syndromic 11

Sources for Microphthalmia, Syndromic 11

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
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