MCID: MCR228
MIFTS: 23

Microphthalmia, Syndromic 13

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

Aliases & Classifications for Microphthalmia, Syndromic 13

MalaCards integrated aliases for Microphthalmia, Syndromic 13:

Name: Microphthalmia, Syndromic 13 57 29 6 73
Colobomatous Microphthalmia with Microcephaly, Short Stature, and Psychomotor Retardation 57 75
Maine Microphthalmos 57 75
Mcops13 57 75
X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome 59
X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome 59
Microphthalmia, Syndromic, Type 13 40
Microphthalmia, Syndromic, 13 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
x-linked

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


HPO:

32
microphthalmia, syndromic 13:
Inheritance x-linked inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 13

UniProtKB/Swiss-Prot : 75 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, is also known as colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation. 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 microcephaly and abnormality of the pinna

Description from OMIM: 300915

Related Diseases for Microphthalmia, Syndromic 13

Symptoms & Phenotypes for Microphthalmia, Syndromic 13

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
microphthalmia
microcornea
esotropia
nystagmus, pendular
more
Skeletal Skull:
microcephaly

Neurologic Central Nervous System:
mental retardation

Skeletal Spine:
kyphoscoliosis (rare)

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Ears:
simple ears
anteverted ears

Head And Neck Teeth:
diastema of incisors


Clinical features from OMIM:

300915

Human phenotypes related to Microphthalmia, Syndromic 13:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 abnormality of the pinna 32 HP:0000377
3 microcornea 32 HP:0000482
4 ptosis 32 HP:0000508
5 esotropia 32 HP:0000565
6 microphthalmia 32 HP:0000568
7 coloboma 32 HP:0000589
8 intellectual disability 32 HP:0001249
9 global developmental delay 32 HP:0001263
10 kyphoscoliosis 32 occasional (7.5%) HP:0002751
11 short stature 32 HP:0004322
12 pendular nystagmus 32 HP:0012043
13 anteverted ears 32 HP:0040080

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:

41
Eye, Retina

Publications for Microphthalmia, Syndromic 13

Variations for Microphthalmia, Syndromic 13

ClinVar genetic disease variations for Microphthalmia, Syndromic 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HMGB3 NM_001301231.1(HMGB3): c.540_541dupTA (p.Lys181Ilefs) duplication Pathogenic rs431825172 GRCh37 Chromosome X, 150156264: 150156265
2 HMGB3 NM_001301231.1(HMGB3): c.540_541dupTA (p.Lys181Ilefs) duplication Pathogenic rs431825172 GRCh38 Chromosome X, 150987791: 150987792

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

Sources for Microphthalmia, Syndromic 13

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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