MCID: MCR217
MIFTS: 22

Microphthalmia, Syndromic 11

Categories: Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Cardiovascular diseases, Mental diseases, Respiratory diseases, Reproductive diseases, Ear diseases

Aliases & Classifications for Microphthalmia, Syndromic 11

MalaCards integrated aliases for Microphthalmia, Syndromic 11:

Name: Microphthalmia, Syndromic 11 57 29 13 6 73
Mcops11 57 75
Microphthalmia with Corpus Callosum Agenesis and Orofacial Clefting 75
Microphthalmia, Syndromic, Type 11 40
Microphthalmia, Syndromic, 11 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microphthalmia, syndromic 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 11

UniProtKB/Swiss-Prot : 75 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 pineal and eye, and related phenotypes are agenesis of corpus callosum and global developmental delay

Description from OMIM: 614402

Related Diseases for Microphthalmia, Syndromic 11

Symptoms & Phenotypes for Microphthalmia, Syndromic 11

Symptoms via clinical synopsis from OMIM:

57
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

Growth Weight:
weight in third centile

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

Neurologic Central Nervous System:
global developmental delay
agenesis of corpus callosum
agenesis of pineal gland
vertical orientation of hippocampus


Clinical features from OMIM:

614402

Human phenotypes related to Microphthalmia, Syndromic 11:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 global developmental delay 32 HP:0001263
3 cleft palate 32 HP:0000175
4 microphthalmia 32 HP:0000568
5 cleft upper lip 32 HP:0000204
6 agenesis of pineal gland 32 HP:0012687

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:

41
Pineal, Eye

Publications for Microphthalmia, Syndromic 11

Variations for Microphthalmia, Syndromic 11

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

75
# Symbol AA change Variation ID SNP ID
1 VAX1 p.Arg152Ser VAR_067307 rs387907252

ClinVar genetic disease variations for Microphthalmia, Syndromic 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VAX1 NM_001112704.1(VAX1): c.454C> A (p.Arg152Ser) single nucleotide variant Pathogenic rs387907252 GRCh37 Chromosome 10, 118894070: 118894070
2 VAX1 NM_001112704.1(VAX1): c.454C> A (p.Arg152Ser) single nucleotide variant Pathogenic rs387907252 GRCh38 Chromosome 10, 117134559: 117134559
3 VAX1 NM_001112704.1(VAX1): c.642G> A (p.Leu214=) single nucleotide variant Conflicting interpretations of pathogenicity rs554140675 GRCh37 Chromosome 10, 118893882: 118893882
4 VAX1 NM_001112704.1(VAX1): c.642G> A (p.Leu214=) single nucleotide variant Conflicting interpretations of pathogenicity rs554140675 GRCh38 Chromosome 10, 117134371: 117134371
5 VAX1 NM_001112704.1(VAX1): c.993dup (p.Ala332Serfs) duplication Uncertain significance GRCh38 Chromosome 10, 117134020: 117134020
6 VAX1 NM_001112704.1(VAX1): c.993dup (p.Ala332Serfs) duplication Uncertain significance GRCh37 Chromosome 10, 118893531: 118893531
7 VAX1 NM_001112704.1(VAX1): c.312dup (p.Thr105Hisfs) duplication Uncertain significance GRCh38 Chromosome 10, 117136589: 117136589
8 VAX1 NM_001112704.1(VAX1): c.312dup (p.Thr105Hisfs) duplication Uncertain significance GRCh37 Chromosome 10, 118896100: 118896100

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 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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