MCOPS10
MCID: MCR312
MIFTS: 39

Microphthalmia, Syndromic 10 (MCOPS10)

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

Aliases & Classifications for Microphthalmia, Syndromic 10

MalaCards integrated aliases for Microphthalmia, Syndromic 10:

Name: Microphthalmia, Syndromic 10 57 70
Mcops10 57 12 20 58
Moba 57 12 20
Microphthalmia-Brain Atrophy Syndrome 12 58
Microphthalmia and Brain Atrophy 57 20
Syndromic Microphthalmia 10 12 15
Microphthalmia and Brain Atrophy; Moba 57
Syndromic Microphthalmia Type 10 58
Microphthalmia Syndromic 10 20
Moba Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
microphthalmia-brain atrophy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111812
OMIM® 57 611222
ICD10 via Orphanet 33 Q11.2
Orphanet 58 ORPHA77299
MedGen 41 C1970013
UMLS 70 C1970013

Summaries for Microphthalmia, Syndromic 10

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 77299 Definition Microphthalmia-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.

MalaCards based summary : Microphthalmia, Syndromic 10, also known as mcops10, is related to eating disorder and anorexia nervosa. An important gene associated with Microphthalmia, Syndromic 10 is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1). Affiliated tissues include eye, brain and cortex, and related phenotypes are blindness and bilateral microphthalmos

Disease Ontology : 12 A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability.

More information from OMIM: 611222

Related Diseases for Microphthalmia, Syndromic 10

Diseases in the Syndromic Microphthalmia family:

Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 2
Microphthalmia, Syndromic 13 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:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 eating disorder 10.2
2 anorexia nervosa 10.2
3 bulimia nervosa 10.2
4 actinobacillosis 10.1 CWC15 CTTNBP2
5 noonan syndrome 7 10.1 CTTNBP2 ASZ1
6 middle east respiratory syndrome 10.1 CWC15 ASZ1
7 mullegama-klein-martinez syndrome 10.0 DNAJC28 CRIP3
8 yemenite deaf-blind hypopigmentation syndrome 10.0
9 microphthalmia 10.0
10 microcephaly 10.0
11 spasticity 10.0
12 inflammatory bowel disease 10.0
13 coronavirus infectious disease 10.0 CWC15 ASZ1
14 syndromic microphthalmia 9.9 MOBP CYP11B1 CWC15 CRIP3 ASZ1
15 celiac disease 1 9.8
16 cryptorchidism, unilateral or bilateral 9.8
17 body mass index quantitative trait locus 11 9.8
18 asthma 9.8
19 body mass index quantitative trait locus 9 9.8
20 body mass index quantitative trait locus 8 9.8
21 body mass index quantitative trait locus 4 9.8
22 body mass index quantitative trait locus 10 9.8
23 anxiety 9.8
24 body mass index quantitative trait locus 7 9.8
25 body mass index quantitative trait locus 12 9.8
26 body mass index quantitative trait locus 14 9.8
27 body mass index quantitative trait locus 18 9.8
28 alacrima, achalasia, and mental retardation syndrome 9.8
29 body mass index quantitative trait locus 19 9.8
30 fetal alcohol syndrome 9.8
31 alcohol-related birth defect 9.8
32 autism spectrum disorder 9.8
33 urinary tract infection 9.8
34 pre-eclampsia 9.8
35 hypospadias 9.8
36 gestational diabetes 9.8
37 acute cystitis 9.8
38 diarrhea 9.8
39 disease of mental health 9.8
40 dermatitis 9.8
41 bronchitis 9.8
42 ulcerative colitis 9.8
43 measles 9.8
44 depression 9.8
45 permanent neonatal diabetes mellitus 9.7 WDR7 CWC15 APEH

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:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
2 bilateral microphthalmos 58 31 hallmark (90%) Very frequent (99-80%) HP:0007633
3 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
4 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
7 atrophy/degeneration affecting the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007366
8 corpus callosum atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007371
9 diffuse cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002506
10 inappropriate crying 58 31 frequent (33%) Frequent (79-30%) HP:0030215
11 dilation of lateral ventricles 58 31 frequent (33%) Frequent (79-30%) HP:0006956
12 diffuse demyelination of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0007162
13 multifocal seizures 58 31 frequent (33%) Frequent (79-30%) HP:0031165
14 cerebellar vermis atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006855
15 tongue thrusting 58 31 occasional (7.5%) Occasional (29-5%) HP:0100703
16 abnormality of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0007361
17 vegetative state 58 31 occasional (7.5%) Occasional (29-5%) HP:0031358
18 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
19 focal hyperkinetic seizure 31 occasional (7.5%) HP:0011174
20 generalized myoclonic seizures 58 Occasional (29-5%)
21 generalized-onset seizure 58 Occasional (29-5%)
22 hyperkinetic seizures 58 Occasional (29-5%)

Clinical features from OMIM®:

611222 (Updated 05-Apr-2021)

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:

40
Eye, Brain, Cortex, Cerebellum, Pons, Tongue, Thyroid

Publications for Microphthalmia, Syndromic 10

Articles related to Microphthalmia, Syndromic 10:

(show top 50) (show all 442)
# Title Authors PMID Year
1
Microphthalmia and brain atrophy: a novel neurodegenerative disease. 57 61
16566018 2006
2
Prenatal phthalate exposures and executive function in preschool children. 61
33524667 2021
3
Childhood adherence to a potentially healthy and sustainable Nordic diet and later overweight: The Norwegian Mother, Father and Child Cohort Study (MoBa). 61
33103349 2021
4
Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa). 61
32424708 2021
5
Maternal seafood intake during pregnancy, prenatal mercury exposure and child body mass index trajectories up to 8 years. 61
33713119 2021
6
The associations between maternal and child diet quality and child ADHD - findings from a large Norwegian pregnancy cohort study. 61
33685413 2021
7
Growth in children conceived by ART. 61
33592626 2021
8
Direct and Indirect Effects of Maternal, Paternal, and Offspring Genotypes: Trio-GCTA. 61
33387132 2021
9
Development and description of New Nordic Diet scores across infancy and childhood in the Norwegian Mother, Father and Child Cohort Study (MoBa). 61
33528109 2021
10
Preterm birth and risk for language delays before school entry: A sibling-control study. 61
31896377 2021
11
SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. 61
33459766 2021
12
Fathers' Mental Health and Children's Aggressive Behaviour A Study Based on Data from the Norwegian Mother, Father and Child Cohort Study (MoBa). 61
33511500 2021
13
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. 61
32778765 2021
14
Old Question Revisited: Are High-Protein Diets Safe in Pregnancy? 61
33572843 2021
15
Early life growth and associations with lung function and bronchial hyperresponsiveness at 11-years of age. 61
33482491 2021
16
Cannabis Use during Pregnancy and Risk of Adverse Birth Outcomes: A Longitudinal Cohort Study. 61
33040062 2021
17
Association between colic and sleep problems in infancy and subsequent development, emotional and behavioral problems: a longitudinal study. 61
33407244 2021
18
Maternal Dietary Selenium Intake during Pregnancy Is Associated with Higher Birth Weight and Lower Risk of Small for Gestational Age Births in the Norwegian Mother, Father and Child Cohort Study. 61
33374667 2020
19
Thyroid hormone replacement therapy in pregnancy and motor function, communication skills, and behavior of preschool children: The Norwegian Mother, Father, and Child Cohort Study. 61
33314561 2020
20
Age of walking and intellectual ability in autism spectrum disorder and other neurodevelopmental disorders: a population-based study. 61
33369747 2020
21
Supervised Learning Achieves Human-Level Performance in MOBA Games: A Case Study of Honor of Kings. 61
33147150 2020
22
Arrhythmia Classification with ECG signals based on the Optimization-Enabled Deep Convolutional Neural Network. 61
32593973 2020
23
Pre- and post-natal factors and physical activity in childhood: The Norwegian Mother, Father and Child Cohort study. 61
32720380 2020
24
Blood-based epigenetic estimators of chronological age in human adults using DNA methylation data from the Illumina MethylationEPIC array. 61
33109080 2020
25
Early Predictors of ADHD: Evidence from a Prospective Birth Cohort. 61
29254401 2020
26
How important are parents in the development of child anxiety and depression? A genomic analysis of parent-offspring trios in the Norwegian Mother Father and Child Cohort Study (MoBa). 61
33106172 2020
27
Maternal fibre and gluten intake during pregnancy and risk of childhood celiac disease: the MoBa study. 61
33009438 2020
28
Child and Parental Characteristics of Medication Use for Attention-Deficit/Hyperactivity Disorder. 61
32672488 2020
29
Neonatal thyroid-stimulating hormone and association with attention-deficit/hyperactivity disorder. 61
32072662 2020
30
Modeling exposures of medications used episodically during pregnancy: Triptans as a motivating example. 61
32748540 2020
31
Mechanisms linking parental educational attainment with child ADHD, depression, and academic problems: a study of extended families in The Norwegian Mother, Father and Child Cohort Study. 61
31957030 2020
32
Molecular Characterization and Comparative Genomics of IncQ-3 Plasmids Conferring Resistance to Various Antibiotics Isolated from a Wastewater Treatment Plant in Warsaw (Poland). 61
32957637 2020
33
A Common Family Factor Underlying Language Difficulties and Internalizing Problems: Findings From a Population-Based Sibling Study. 61
32207357 2020
34
Insufficient maternal iodine intake is associated with subfecundity, reduced foetal growth, and adverse pregnancy outcomes in the Norwegian Mother, Father and Child Cohort Study. 61
32778101 2020
35
The TraK accessory factor activates substrate transfer through the pKM101 type IV secretion system independently of its role in relaxosome assembly. 61
32239779 2020
36
Sequence and characterization of shuttle vectors for molecular cloning in Porphyromonas, Bacteroides and related bacteria. 61
32592236 2020
37
Antipyretics might occupy a narrow temporal position in aetiology of type 1 diabetes: Immunological and intestinal studies required. 61
32283444 2020
38
The Scaffold Proteins Paxillin B and α-Actinin Regulate Septation in Aspergillus nidulans via Control of Actin Ring Contraction. 61
32317285 2020
39
Associations of Maternal Use of Benzodiazepines or Benzodiazepine-like Hypnotics During Pregnancy With Immediate Pregnancy Outcomes in Norway. 61
32568398 2020
40
In utero exposure to analgesic opioids and language development in 5-year old children. 61
32383248 2020
41
Associations between urine phthalate metabolites and thyroid function in pregnant women and the influence of iodine status. 61
32044443 2020
42
Genetic liability to schizophrenia is associated with exposure to traumatic events in childhood. 61
32234096 2020
43
The effect of nitrogen dioxide on low birth weight in women with inflammatory bowel disease: a Norwegian pregnancy cohort study (MoBa). 61
32064969 2020
44
Maternal and child gluten intake and association with type 1 diabetes: The Norwegian Mother and Child Cohort Study. 61
32119659 2020
45
Childhood abuse and unplanned pregnancies: a cross-sectional study of women in the Norwegian Mother and Child Cohort Study. 61
31802594 2020
46
Abundance of mobile genetic elements in an Acinetobacter lwoffii strain isolated from Transylvanian honey sample. 61
32076091 2020
47
Pre conception use of cannabis and cocaine among men with pregnant partners. 61
32934592 2020
48
Apocalyptic themes in times of trouble: when young men are deeply alienated. 61
31972895 2020
49
Predicting likelihood of psychological disorders in PlayerUnknown's Battlegrounds (PUBG) players from Asian countries using supervised machine learning. 61
31704370 2020
50
Intake of dairy protein during pregnancy in IBD and risk of SGA in a Norwegian population-based mother and child cohort. 61
32013916 2020

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

Biological processes related to Microphthalmia, Syndromic 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nitric oxide biosynthetic process GO:0006809 9.26 MTARC2 MTARC1
2 cellular detoxification of nitrogen compound GO:0070458 9.16 MTARC2 MTARC1
3 nitrate metabolic process GO:0042126 8.96 MTARC2 MTARC1
4 detoxification of nitrogen compound GO:0051410 8.62 MTARC2 MTARC1

Molecular functions related to Microphthalmia, Syndromic 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molybdopterin cofactor binding GO:0043546 9.32 MTARC2 MTARC1
2 molybdenum ion binding GO:0030151 9.26 MTARC2 MTARC1
3 oxidoreductase activity, acting on other nitrogenous compounds as donors GO:0016661 9.16 MTARC2 MTARC1
4 nitrate reductase activity GO:0008940 8.96 MTARC2 MTARC1
5 nitrite reductase activity GO:0098809 8.62 MTARC2 MTARC1

Sources for Microphthalmia, Syndromic 10

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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