MCOPS13
MCID: MCR228
MIFTS: 29

Microphthalmia, Syndromic 13 (MCOPS13)

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

Aliases & Classifications for Microphthalmia, Syndromic 13

MalaCards integrated aliases for Microphthalmia, Syndromic 13:

Name: Microphthalmia, Syndromic 13 57 29 6 70
Colobomatous Microphthalmia with Microcephaly, Short Stature, and Psychomotor Retardation 57 12 72
Maine Microphthalmos 57 12 72
Mcops13 57 12 72
X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome 12 58
Syndromic Microphthalmia 13 12 15
X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome 58
Microphthalmia, Syndromic, Type 13 39
Microphthalmia, Syndromic, 13 72

Characteristics:

Orphanet epidemiological data:

58
x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked

Miscellaneous:
based on report of 1 family (last curated january 2014)


HPO:

31
microphthalmia, syndromic 13:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111811
OMIM® 57 300915
OMIM Phenotypic Series 57 PS309800
MeSH 44 D008850
ICD10 via Orphanet 33 Q87.0
Orphanet 58 ORPHA431140
UMLS 70 C3806742

Summaries for Microphthalmia, Syndromic 13

UniProtKB/Swiss-Prot : 72 Microphthalmia, syndromic, 13: A form of microphthalmia, 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. MCOPS13 patients exhibit colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation.

MalaCards based summary : Microphthalmia, Syndromic 13, also known as colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation, is related to microphthalmia, syndromic 1 and ureteral benign neoplasm. An important gene associated with Microphthalmia, Syndromic 13 is HMGB3 (High Mobility Group Box 3). Affiliated tissues include eye and retina, and related phenotypes are kyphoscoliosis and intellectual disability

Disease Ontology : 12 A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has material basis in mutation in HMGB3 on chromosome Xq28.

More information from OMIM: 300915 PS309800

Related Diseases for Microphthalmia, Syndromic 13

Graphical network of the top 20 diseases related to Microphthalmia, Syndromic 13:



Diseases related to Microphthalmia, Syndromic 13

Symptoms & Phenotypes for Microphthalmia, Syndromic 13

Human phenotypes related to Microphthalmia, Syndromic 13:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 kyphoscoliosis 31 occasional (7.5%) HP:0002751
2 intellectual disability 31 HP:0001249
3 ptosis 31 HP:0000508
4 global developmental delay 31 HP:0001263
5 microcephaly 31 HP:0000252
6 short stature 31 HP:0004322
7 microphthalmia 31 HP:0000568
8 microcornea 31 HP:0000482
9 abnormality of the pinna 31 HP:0000377
10 coloboma 31 HP:0000589
11 esotropia 31 HP:0000565
12 diastema 31 HP:0000699
13 pendular nystagmus 31 HP:0012043
14 anteverted ears 31 HP:0040080

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
microphthalmia
microcornea
esotropia
nystagmus, pendular
more
Skeletal Skull:
microcephaly

Head And Neck Ears:
anteverted ears
simple ears

Skeletal Spine:
kyphoscoliosis (rare)

Head And Neck Head:
microcephaly

Growth Height:
short stature

Neurologic Central Nervous System:
mental retardation

Head And Neck Teeth:
diastema of incisors

Clinical features from OMIM®:

300915 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Syndromic 13

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 13

Genetic Tests for Microphthalmia, Syndromic 13

Genetic tests related to Microphthalmia, Syndromic 13:

# Genetic test Affiliating Genes
1 Microphthalmia, Syndromic 13 29 HMGB3

Anatomical Context for Microphthalmia, Syndromic 13

MalaCards organs/tissues related to Microphthalmia, Syndromic 13:

40
Eye, Retina

Publications for Microphthalmia, Syndromic 13

Articles related to Microphthalmia, Syndromic 13:

# Title Authors PMID Year
1
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. 57 6
24993872 2014
2
X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome. 57 6
4998085 1971
3
X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplesia, hypospadias and cryptorchidism. 57
6149829 1984

Variations for Microphthalmia, Syndromic 13

ClinVar genetic disease variations for Microphthalmia, Syndromic 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HMGB3 NM_005342.4(HMGB3):c.478_479TA[3] (p.Lys161fs) Microsatellite Pathogenic 140456 rs431825172 GRCh37: X:150156261-150156262
GRCh38: X:150987788-150987789

Expression for Microphthalmia, Syndromic 13

Search GEO for disease gene expression data for Microphthalmia, Syndromic 13.

Pathways for Microphthalmia, Syndromic 13

GO Terms for Microphthalmia, Syndromic 13

Biological processes related to Microphthalmia, Syndromic 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein acetylation GO:0006473 8.62 NAT10 NAA10

Molecular functions related to Microphthalmia, Syndromic 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 N-acetyltransferase activity GO:0008080 8.62 NAT10 NAA10

Sources for Microphthalmia, Syndromic 13

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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