MCOPS10
MCID: MCR312
MIFTS: 34

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 57 72
Mcops10 57 53 59
Microphthalmia and Brain Atrophy 57 53
Moba 57 53
Microphthalmia and Brain Atrophy; Moba 57
Microphthalmia-Brain Atrophy Syndrome 59
Syndromic Microphthalmia Type 10 59
Microphthalmia Syndromic 10 53
Moba Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microphthalmia-brain atrophy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q11.2
Orphanet 59 ORPHA77299
MedGen 42 C1970013
UMLS 72 C1970013

Summaries for Microphthalmia, Syndromic 10

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 77299DefinitionMicrophthalmia-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 anorexia nervosa. The drugs Vitamin A and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are blindness and bilateral microphthalmos

More information from OMIM: 611222 PS309800

Related Diseases for Microphthalmia, Syndromic 10

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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
2 bilateral microphthalmos 59 32 hallmark (90%) Very frequent (99-80%) HP:0007633
3 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
4 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
7 atrophy/degeneration affecting the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007366
8 corpus callosum atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007371
9 diffuse cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002506
10 dilation of lateral ventricles 59 32 frequent (33%) Frequent (79-30%) HP:0006956
11 inappropriate crying 59 32 frequent (33%) Frequent (79-30%) HP:0030215
12 diffuse demyelination of the cerebral white matter 59 32 frequent (33%) Frequent (79-30%) HP:0007162
13 multifocal seizures 59 32 frequent (33%) Frequent (79-30%) HP:0031165
14 generalized myoclonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002123
15 vegetative state 59 32 occasional (7.5%) Occasional (29-5%) HP:0031358
16 cerebellar vermis atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006855
17 abnormality of the pons 59 32 occasional (7.5%) Occasional (29-5%) HP:0007361
18 tongue thrusting 59 32 occasional (7.5%) Occasional (29-5%) HP:0100703
19 hyperkinetic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0011174
20 generalized-onset seizure 59 Occasional (29-5%)

Clinical features from OMIM:

611222

Drugs & Therapeutics for Microphthalmia, Syndromic 10

Drugs for Microphthalmia, Syndromic 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
2
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
3 Micronutrients
4 Trace Elements
5 Antioxidants
6 Vitamins
7 retinol
8 Retinol palmitate
9 Protective Agents
10 Nutrients
11 Calciferol
12 Bone Density Conservation Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Norwegian Mother and Child Study - Causal Pathways for Asthma (CASPAR) Completed NCT03197233

Search 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:

41
Brain, Eye, Cortex, Cerebellum, Testes, Bone, Pons

Publications for Microphthalmia, Syndromic 10

Articles related to Microphthalmia, Syndromic 10:

(show top 50) (show all 386)
# Title Authors PMID Year
1
Microphthalmia and brain atrophy: a novel neurodegenerative disease. 38 8
16566018 2006
2
Gluten Intake in Early Childhood and Risk of Celiac Disease in Childhood: A Nationwide Cohort Study. 38
31343439 2019
3
A Further Test of the Impact of Online Gaming on Psychological Wellbeing and the Role of Play Motivations and Problematic Use. 38
31385123 2019
4
Paternal antidepressant use as a negative control for maternal use: assessing familial confounding on gestational length and anxiety traits in offspring. 38
31369122 2019
5
Smoking in pregnancy, cord blood cotinine and risk of celiac disease diagnosis in offspring. 38
31037572 2019
6
Prenatal and perinatal risk factors for eating disorders in women: A population cohort study. 38
30891792 2019
7
Early life risk factors for childhood obesity-Does physical activity modify the associations? The MoBa cohort study. 38
31220367 2019
8
Lean Fish Intake Decreases the Risk of Type 2 Diabetes Mellitus in Norwegian Women (P18-036-19). 38
31225087 2019
9
A new identified suppressor of Cdc7p/SepH kinase, PomA, regulates fungal asexual reproduction via affecting phosphorylation of MAPK-HogA. 38
31194741 2019
10
Psychometric properties of the Internet Gaming Disorder Test (IGDT-10) and problematic gaming behavior among Finnish vocational school students. 38
30907002 2019
11
Peer-Victimization of Young Children With Developmental and Behavioral Difficulties-A Population-Based Study. 38
30816959 2019
12
Patterns and dietary determinants of essential and toxic elements in blood measured in mid-pregnancy: The Norwegian Environmental Biobank. 38
30928759 2019
13
Reduced hippocampal subfield volumes and memory function in school-aged children born preterm with very low birthweight (VLBW). 38
31136968 2019
14
Mobilisation of a small Acinetobacter plasmid carrying an oriT transfer origin by conjugative RepAci6 plasmids. 38
30981890 2019
15
Does smoking during pregnancy mediate educational disparities in preterm delivery? Findings from three large birth cohorts. 38
30920006 2019
16
Maternal levels of perfluoroalkyl substances (PFASs) during pregnancy and childhood allergy and asthma related outcomes and infections in the Norwegian Mother and Child (MoBa) cohort. 38
30684804 2019
17
Association Between Maternal Folic Acid Supplementation and Congenital Heart Defects in Offspring in Birth Cohorts From Denmark and Norway. 38
30857459 2019
18
Internet gaming disorder in male and female young adults: The role of alexithymia, depression, anxiety and gaming type. 38
30616119 2019
19
Maternal history of miscarriages and measures of fertility in relation to childhood asthma. 38
30514789 2019
20
Immunity to varicella zoster virus among pregnant women in the Norwegian Mother and Child Cohort Study. 38
31408478 2019
21
Maternal reproductive hormones and angiogenic factors in pregnancy and subsequent breast cancer risk. 38
30506491 2019
22
Adult ADHD Symptoms and Satisfaction With Life: Does Age and Sex Matter? 38
26582800 2019
23
Language delay and poorer school performance in children of mothers with inadequate iodine intake in pregnancy: results from follow-up at 8 years in the Norwegian Mother and Child Cohort Study. 38
30417257 2018
24
Information bias of social gradients in sickness absence: a comparison of self-report data in the Norwegian Mother and Child Cohort Study (MoBa) and data in national registries. 38
30453919 2018
25
Associations between maternal dietary patterns and infant birth weight, small and large for gestational age in the Norwegian Mother and Child Cohort Study. 38
30459338 2018
26
Menstrual cycle characteristics as determinants of plasma concentrations of perfluoroalkyl substances (PFASs) in the Norwegian Mother and Child Cohort (MoBa study). 38
29879567 2018
27
Trajectories of brain development in school-age children born preterm with very low birth weight. 38
30349084 2018
28
Prenatal exposure to dental amalgam and risk of symptoms of attention-deficit and hyperactivity disorder (ADHD). 38
30084494 2018
29
Maternal prenatal depressive symptoms and risk for early-life psychopathology in offspring: genetic analyses in the Norwegian Mother and Child Birth Cohort Study. 38
30245187 2018
30
Maternal exposure to gasoline and exhaust increases the risk of childhood leukaemia in offspring - a prospective study in the Norwegian Mother and Child Cohort Study. 38
30318517 2018
31
Maternal Plasma Concentrations of Per- and polyfluoroalkyl Substances and Breastfeeding Duration in the Norwegian Mother and Child Cohort. 38
30298140 2018
32
Revisiting the Children-of-Twins Design: Improving Existing Models for the Exploration of Intergenerational Associations. 38
29961153 2018
33
Polymer-based dental filling materials placed during pregnancy and risk to the foetus. 38
30134965 2018
34
Childhood suffering: hyper endemic echinococcosis in Qinghai-Tibetan primary school students, China. 38
29996900 2018
35
Language Delay and Externalizing Problems in Preschool Age: A Prospective Cohort Study. 38
29322277 2018
36
Emotional Lability in Preschoolers With Symptoms of ADHD. 38
25804545 2018
37
Individual performance in team-based online games. 38
30110428 2018
38
Adherence to the New Nordic Diet during pregnancy and subsequent maternal weight development: a study conducted in the Norwegian Mother and Child Cohort Study (MoBa). 38
29770760 2018
39
Attention-Deficit/Hyperactivity Disorder in Preschoolers: The Accuracy of a Short Screener. 38
29859558 2018
40
Prenatal Phthalates, Maternal Thyroid Function, and Risk of Attention-Deficit Hyperactivity Disorder in the Norwegian Mother and Child Cohort. 38
29790729 2018
41
Pregnancy-Related Risk Factors Are Associated With a Significant Burden of Treated Hypertension Within 10 Years of Delivery: Findings From a Population-Based Norwegian Cohort. 38
29755036 2018
42
Dietary acrylamide intake during pregnancy and postnatal growth and obesity: Results from the Norwegian Mother and Child Cohort Study (MoBa). 38
29398013 2018
43
Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. 38
29415279 2018
44
Maternal and Paternal Height and the Risk of Preeclampsia. 38
29463626 2018
45
Influence of weight concerns on breastfeeding: Evidence from the Norwegian mother and child cohort study. 38
29193610 2018
46
Oral contraceptive use as a determinant of plasma concentrations of perfluoroalkyl substances among women in the Norwegian Mother and Child Cohort (MoBa) study. 38
29274593 2018
47
Perinatal death and exposure to dental amalgam fillings during pregnancy in the population-based MoBa cohort. 38
30532171 2018
48
Genetic structure of four plasmids found in Acinetobacter baumannii isolate D36 belonging to lineage 2 of global clone 1. 38
30260997 2018
49
Mitotic-Spindle Organizing Protein MztA Mediates Septation Signaling by Suppressing the Regulatory Subunit of Protein Phosphatase 2A-ParA in Aspergillus nidulans. 38
29774021 2018
50
Maternal use of thyroid hormone replacement therapy before, during, and after pregnancy: agreement between self-report and prescription records and group-based trajectory modeling of prescription patterns. 38
30584374 2018

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

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10 dbSNP
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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