MCOPS10
MCID: MCR312
MIFTS: 26

Microphthalmia, Syndromic 10 (MCOPS10)

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

Aliases & Classifications for Microphthalmia, Syndromic 10

MalaCards integrated aliases for Microphthalmia, Syndromic 10:

Name: Microphthalmia, Syndromic 10 58 74
Mcops10 58 54 60
Microphthalmia and Brain Atrophy 58 54
Moba 58 54
Microphthalmia and Brain Atrophy; Moba 58
Microphthalmia-Brain Atrophy Syndrome 60
Syndromic Microphthalmia Type 10 60
Microphthalmia Syndromic 10 54
Moba Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
microphthalmia-brain atrophy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



Summaries for Microphthalmia, Syndromic 10

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 77299Disease definitionMicrophthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.Visit the Orphanet disease page for more resources.

MalaCards based summary : Microphthalmia, Syndromic 10, also known as mcops10, is related to eating disorder and cryptorchidism, unilateral or bilateral. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are blindness and bilateral microphthalmos

Description from OMIM: 611222

Related Diseases for Microphthalmia, Syndromic 10

Diseases in the Microphthalmia, Syndromic 3 family:

Microphthalmia, Syndromic 2 Microphthalmia, Syndromic 13
Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 1
Microphthalmia, Syndromic 9 Microphthalmia, Syndromic 8
Microphthalmia, Syndromic 6 Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11
Microphthalmia, Syndromic 12

Diseases related to Microphthalmia, Syndromic 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 eating disorder 10.3
2 cryptorchidism, unilateral or bilateral 10.0
3 asthma 10.0
4 inflammatory bowel disease 10.0
5 pre-eclampsia 10.0
6 hypospadias 10.0
7 measles 10.0
8 microphthalmia 10.0

Graphical network of the top 20 diseases related to Microphthalmia, Syndromic 10:



Diseases related to Microphthalmia, Syndromic 10

Symptoms & Phenotypes for Microphthalmia, Syndromic 10

Human phenotypes related to Microphthalmia, Syndromic 10:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
2 bilateral microphthalmos 60 33 hallmark (90%) Very frequent (99-80%) HP:0007633
3 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
4 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
5 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
6 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
7 atrophy/degeneration affecting the brainstem 60 33 frequent (33%) Frequent (79-30%) HP:0007366
8 corpus callosum atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007371
9 dilation of lateral ventricles 60 33 frequent (33%) Frequent (79-30%) HP:0006956
10 diffuse cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002506
11 inappropriate crying 60 33 frequent (33%) Frequent (79-30%) HP:0030215
12 diffuse demyelination of the cerebral white matter 60 33 frequent (33%) Frequent (79-30%) HP:0007162
13 multifocal seizures 60 33 frequent (33%) Frequent (79-30%) HP:0031165
14 generalized myoclonic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002123
15 vegetative state 60 33 occasional (7.5%) Occasional (29-5%) HP:0031358
16 cerebellar vermis atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0006855
17 abnormality of the pons 60 33 occasional (7.5%) Occasional (29-5%) HP:0007361
18 tongue thrusting 60 33 occasional (7.5%) Occasional (29-5%) HP:0100703
19 hyperkinetic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0011174
20 generalized seizures 60 Occasional (29-5%)

Clinical features from OMIM:

611222

Drugs & Therapeutics for Microphthalmia, Syndromic 10

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 10

Genetic Tests for Microphthalmia, Syndromic 10

Anatomical Context for Microphthalmia, Syndromic 10

MalaCards organs/tissues related to Microphthalmia, Syndromic 10:

42
Brain, Eye, Cerebellum, Cortex, Tongue, Pons

Publications for Microphthalmia, Syndromic 10

Articles related to Microphthalmia, Syndromic 10:

# Title Authors Year
1
Microphthalmia and brain atrophy: a novel neurodegenerative disease. ( 16566018 )
2006

Variations for Microphthalmia, Syndromic 10

Expression for Microphthalmia, Syndromic 10

Search GEO for disease gene expression data for Microphthalmia, Syndromic 10.

Pathways for Microphthalmia, Syndromic 10

GO Terms for Microphthalmia, Syndromic 10

Sources for Microphthalmia, Syndromic 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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