MCOPS8
MCID: MCR245
MIFTS: 46

Microphthalmia, Syndromic 8 (MCOPS8)

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

Aliases & Classifications for Microphthalmia, Syndromic 8

MalaCards integrated aliases for Microphthalmia, Syndromic 8:

Name: Microphthalmia, Syndromic 8 57 13 70
Mmep Syndrome 12 20 58 72 29
Mcops8 57 12 20 58 72
Syndromic Microphthalmia Type 8 12 20 58
Viljoen-Smart Syndrome 12 58 72
Mmep 57 20 72
Microcephaly-Microphthalmia-Ectrodactyly of Lower Limbs-Prognathism Syndrome 12 58
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism 57 44
Syndromic Microphthalmia 8 12 15
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism; Mmep 57
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs and Prognathism 72
Microcephaly Microphthalmia Ectrodactyly of Lower Limbs and Prognathism 20
Microphthalmia, Syndromic, 8 72
Microphthalmia Syndromic 8 20
Viljoen Smart Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
mmep syndrome
Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
? autosomal dominant


HPO:

31
microphthalmia, syndromic 8:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111803
OMIM® 57 601349
OMIM Phenotypic Series 57 PS309800
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1832440
Orphanet 58 ORPHA3434
MedGen 41 C1832440
UMLS 70 C1832440

Summaries for Microphthalmia, Syndromic 8

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3434 Definition The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene ( SNX3 ; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.

MalaCards based summary : Microphthalmia, Syndromic 8, also known as mmep syndrome, is related to microphthalmia and split-hand/foot malformation 1. An important gene associated with Microphthalmia, Syndromic 8 is SNX3 (Sorting Nexin 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, spinal cord and bone, and related phenotypes are intellectual disability and mandibular prognathia

Disease Ontology : 12 A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has material basis in mutation in a region of chromosome 6q21.

UniProtKB/Swiss-Prot : 72 Microphthalmia, syndromic, 8: A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is 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.

More information from OMIM: 601349 PS309800

Related Diseases for Microphthalmia, Syndromic 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 28.1 VSX2 STRA6 SOX2 SNX3 RAX PAX6
2 split-hand/foot malformation 1 10.1
3 microcephaly 10.1
4 isolated split hand-split foot malformation 10.1
5 microphthalmia, syndromic 6 10.1 RAX PAX6
6 axenfeld-rieger syndrome, type 1 10.1 RAX PAX6
7 axenfeld-rieger syndrome 10.1 RAX PAX6
8 sclerocornea 10.1 RAX PAX6
9 gillespie syndrome 10.1 RAX PAX6
10 linear skin defects with multiple congenital anomalies 1 10.0 RAX PAX6
11 congenital aphakia 10.0 VSX2 PAX6
12 lens subluxation 9.9 VSX2 PAX6
13 germ cell and embryonal cancer 9.9 SOX2 PAX6
14 microphthalmia, syndromic 1 9.9 VSX2 STRA6
15 scoliosis 9.9
16 idiopathic scoliosis 9.9
17 facial cleft 9.9
18 microphthalmia, syndromic 9 9.9 VSX2 STRA6
19 microphthalmia, syndromic 5 9.9 RAX OTX2
20 spastic ataxia 8 9.9 PAX6 OTX2
21 vitreous disease 9.8 PAX6 OTX2
22 iris disease 9.8 PAX6 OTX2
23 esotropia 9.8 PAX6 OTX2
24 keratitis, hereditary 9.8 VSX2 PAX6
25 amblyopia 9.8 PAX6 OTX2
26 infratentorial cancer 9.7 SOX2 OTX2
27 charge syndrome 9.7 SOX2 OTX2
28 macular degeneration, age-related, 7 9.6 SOX2 PAX6 OTX2
29 septooptic dysplasia 9.6 SOX2 PAX6 OTX2
30 hypopituitarism 9.6 SOX2 OTX2
31 persistent hyperplastic primary vitreous 9.5 VSX2 PAX6 OTX2
32 optic nerve hypoplasia, bilateral 9.5 VSX2 PAX6 OTX2
33 nanophthalmos 9.5 VSX2 PAX6 OTX2
34 holoprosencephaly 9.5 SOX2 PAX6 OTX2
35 pathologic nystagmus 9.5 PAX6 OTX2
36 peters-plus syndrome 9.4 VSX2 STRA6 SOX2 PAX6
37 leber plus disease 9.4 VSX2 PAX6 OTX2
38 isolated microphthalmia 9.3 VSX2 STRA6 RAX OTX2
39 fryns microphthalmia syndrome 9.3 VSX2 SOX2 PAX6 OTX2
40 aniridia 1 9.3 VSX2 SOX2 PAX6 OTX2
41 anterior segment dysgenesis 9.3 VSX2 STRA6 PAX6 OTX2
42 macular degeneration, age-related, 1 9.3 VSX2 SOX2 PAX6 OTX2
43 cataract 9.2 VSX2 SOX2 PAX6 OTX2
44 colobomatous microphthalmia 9.1 VSX2 STRA6 RAX PAX6 OTX2
45 microphthalmia, syndromic 3 9.0 VSX2 STRA6 SOX2 PAX6 OTX2
46 fundus dystrophy 9.0 VSX2 STRA6 SOX2 PAX6 OTX2
47 syndromic microphthalmia 8.8 VSX2 STRA6 SOX2 SNX3 PAX6 OTX2
48 microphthalmia, isolated 3 8.8 VSX2 STRA6 SOX2 RAX PAX6 OTX2
49 microphthalmia, isolated 2 8.8 VSX2 STRA6 SOX2 RAX PAX6 OTX2
50 coloboma of macula 8.8 VSX2 STRA6 SOX2 RAX PAX6 OTX2

Graphical network of the top 20 diseases related to Microphthalmia, Syndromic 8:



Diseases related to Microphthalmia, Syndromic 8

Symptoms & Phenotypes for Microphthalmia, Syndromic 8

Human phenotypes related to Microphthalmia, Syndromic 8:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
5 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
6 split foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001839
7 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
8 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
9 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
10 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
11 oral cleft 58 31 Very frequent (99-80%) HP:0000202
12 cleft palate 31 HP:0000175
13 cleft upper lip 31 HP:0000204
14 blepharophimosis 31 HP:0000581
15 microcornea 31 HP:0000482
16 short palpebral fissure 31 HP:0012745
17 premature skin wrinkling 31 HP:0100678
18 widely-spaced maxillary central incisors 31 HP:0001566

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G U:
cryptorchidism

Mouth:
cleft lip/palate

Neuro:
mental retardation

Head:
borderline microcephaly

Teeth:
wide gap between upper central incisors

Eyes:
microphthalmia
microcornea
short palpebral fissures

Mandible:
prognathism

Limbs:
ectrodactyly of feet

Skin:
premature skin aging

Lab:
de novo translocation 46,xx,t(6,13)(q21,q12)

Clinical features from OMIM®:

601349 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microphthalmia, Syndromic 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.93 OTX2 PAX6 RAX SNX3 SOX2 STRA6
2 embryo MP:0005380 9.91 OTX2 PAX6 RAX SNX3 SOX2 STRA6
3 mortality/aging MP:0010768 9.91 OTX2 PAX6 RAX SNX3 SOX2 STRA6
4 nervous system MP:0003631 9.87 OTX2 PAX6 RAX SNX3 SOX2 STRA6
5 hearing/vestibular/ear MP:0005377 9.71 OTX2 PAX6 SNX3 SOX2
6 no phenotypic analysis MP:0003012 9.56 RAX SOX2 STRA6 VSX2
7 pigmentation MP:0001186 9.55 OTX2 PAX6 SOX2 STRA6 VSX2
8 taste/olfaction MP:0005394 9.13 OTX2 PAX6 SOX2
9 vision/eye MP:0005391 9.1 OTX2 PAX6 RAX SOX2 STRA6 VSX2

Drugs & Therapeutics for Microphthalmia, Syndromic 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Miami Membrane for Potency (MMeP) Trial to Assess the Impact of Dehydrated Human Amnion Membrane Allograft Placement During Robotic Radical Prostatectomy on Early Return of Erectile Function Terminated NCT02710422 Phase 2
2 Validation of Multimodal Evoked Potentials (mmEP) for Predicting Disease Progression in Multiple Sclerosis: Sub-study Within the Swiss Multiple Sclerosis Cohort (SMSC) Active, not recruiting NCT03632473

Search NIH Clinical Center for Microphthalmia, Syndromic 8

Cochrane evidence based reviews: microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism

Genetic Tests for Microphthalmia, Syndromic 8

Genetic tests related to Microphthalmia, Syndromic 8:

# Genetic test Affiliating Genes
1 Mmep Syndrome 29

Anatomical Context for Microphthalmia, Syndromic 8

MalaCards organs/tissues related to Microphthalmia, Syndromic 8:

40
Eye, Spinal Cord, Bone, Brain, Bone Marrow, Cortex, Heart

Publications for Microphthalmia, Syndromic 8

Articles related to Microphthalmia, Syndromic 8:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. 61 57
12471201 2002
2
A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP). 61 57
8867664 1996
3
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association. 57
8867653 1996
4
Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. 57
8287191 1993
5
Feasibility and diagnostic accuracy of intra-operative monitoring of motor evoked potentials in children <2 years of age undergoing tethered cord surgery: results in 100 children. 61
33763733 2021
6
Hand or foot train-of-four tests and surgical site muscle relaxation assessed with multiple motor evoked potentials: A prospective observational study. 61
33259448 2020
7
An Elite Hybrid Particle Swarm Optimization for Solving Minimal Exposure Path Problem in Mobile Wireless Sensor Networks. 61
32370068 2020
8
Accuracy of transcranial magnetic stimulation and a Bayesian latent class model for diagnosis of spinal cord dysfunction in horses. 61
32030834 2020
9
Comparison of Muscle MEPs From Transcranial Magnetic and Electrical Stimulation and Appearance of Reflexes in Horses. 61
33122992 2020
10
Feasibility of adjunct facial motor evoked potential monitoring to reduce the number of false-positive results during cervical spine surgery. 61
31835248 2019
11
Determination of magnetic motor evoked potential latency time cutoff values for detection of spinal cord dysfunction in horses. 61
31490026 2019
12
Failure to generate baseline muscle motor evoked potentials during spine surgery: Risk factors and association with the postoperative outcomes. 61
30218942 2018
13
Magnetic motor evoked potentials of cervical muscles in horses. 61
30249249 2018
14
Transcranial magnetic stimulation in the semi-quantitative, pre-operative assessment of patients undergoing spinal deformity surgery. 61
27554347 2017
15
An Electrode Configuration for Recording Muscle Motor Evoked Potentials in the Upper Extremities during Intraoperative Neurophysiological Monitoring. 61
28689398 2017
16
Strength of knee flexors of the paretic limb as an important determinant of functional status in post-stroke rehabilitation. 61
28385338 2017
17
Intraoperative Neurophysiological Monitoring (Motor and Somatosensory Evoked Potentials) in Dorsal Root Entry Zone Lesioning for Brachial Plexus Avulsion Pain. 61
28982108 2017
18
Monitoring of Motor and Somatosensory Evoked Potentials During Spine Surgery: Intraoperative Changes and Postoperative Outcomes. 61
27446784 2016
19
Strategies and Pitfalls of Motor-Evoked Potential Monitoring during Supratentorial Aneurysm Surgery. 61
26639401 2016
20
Multimodal intraoperative monitoring during intramedullary spinal cord tumor surgery. 61
26446854 2015
21
[Selective and non-invasive monitoring of the posterior columns and pyramidal tract during surgery of the spine and spinal cord]. 61
26321313 2015
22
The development of swimming power. 61
25767781 2014
23
Predicting intraoperative feasibility of combined TES-mMEP and cSSEP monitoring during scoliosis surgery based on preoperative neurophysiological assessment. 61
24200409 2014
24
The significance of intraoperative monitoring of muscle motor evoked potentials during unruptured large and giant cerebral aneurysm surgery. 61
24390185 2014
25
"Virtual" lesioning of the human oropharyngeal motor cortex: a videofluoroscopic study. 61
22336105 2012
26
Pattern-specific changes and discordant prognostic values of individual leg-muscle motor evoked potentials during spinal surgery. 61
22227063 2012
27
Evaluating a masters of medical education program: attaining minimum quality standards? 61
22409195 2012
28
Management of calcified thoracic disc herniation using ultrasonic bone curette SONO-PET®: technical description. 61
21968591 2011
29
Factors predicting the feasibility of monitoring lower-limb muscle motor evoked potentials in patients undergoing excision of spinal cord tumors. 61
21438657 2011
30
Developmental expression of sorting nexin 3 in the mouse central nervous system. 61
20817026 2011
31
Safety and feasibility of autologous bone marrow cellular therapy in relapsing-progressive multiple sclerosis. 61
20445531 2010
32
Magnetic stimulation of the radial nerve in dogs and cats with brachial plexus trauma: a report of 53 cases. 61
18602850 2009
33
Effects of sedative and hypnotic drug combinations on transcranial magnetic motor evoked potential, bispectral index and ARX-derived auditory evoked potential index in dogs. 61
18682332 2009
34
PHEMA hydrogels modified through the grafting of phosphate groups by ATRP support the attachment and growth of human corneal epithelial cells. 61
18632768 2008
35
Neuroprotective role of neurophysiological monitoring during endovascular procedures in the brain and spinal cord. 61
18083497 2007
36
Transcranial and direct cortical stimulation for motor evoked potential monitoring in intracerebral aneurysm surgery. 61
18083494 2007
37
Monitoring of motor pathways during brain stem surgery: what we have achieved and what we still miss? 61
18083495 2007
38
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. 61
17655765 2007
39
Effect of phosphate functional groups on the calcification capacity of acrylic hydrogels. 61
17071146 2007
40
Monitoring of muscle motor evoked potentials during cerebral aneurysm surgery: intraoperative changes and postoperative outcome. 61
17121127 2006
41
Motor evoked potential monitoring during cerebral aneurysm surgery: technical aspects and comparison of transcranial and direct cortical stimulation. 61
16234682 2005
42
Lasting paraplegia caused by loss of lumbar spinal cord interneurons in rats: no direct correlation with motor neuron loss. 61
11012058 2000
43
4-Aminopyridine enhances motor evoked potentials following graded spinal cord compression injury in rats. 61
9878868 1999
44
Effect of an intensive educational program for minority college students and recent graduates on the probability of acceptance to medical school. 61
9729987 1998
45
[The effects of graded spinal cord injuries on transcranial electric stimulation motor evoked potentials in the rat]. 61
11825429 1998
46
Serial recording of somatosensory and myoelectric motor evoked potentials: role in assessing functional recovery after graded spinal cord injury in the rat. 61
9104932 1997
47
Transcranial magnetic stimulation as a prognostic tool in stroke. 61
9094063 1997
48
Effects of methylprednisolone on lesioned and uninjured mammalian spinal neurons: viability, ultrastructure, and network electrophysiology. 61
8880607 1996
49
Detection of an NAD(+)-dependent malic enzyme locus in the Atlantic salmon Salmo salar and other salmonid fish. 61
7980383 1994
50
Magnetic motor evoked potentials during methohexital anesthesia in the dog. 61
8190225 1994

Variations for Microphthalmia, Syndromic 8

Expression for Microphthalmia, Syndromic 8

Search GEO for disease gene expression data for Microphthalmia, Syndromic 8.

Pathways for Microphthalmia, Syndromic 8

Pathways related to Microphthalmia, Syndromic 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 SOX2 PAX6 OTX2
2 11.22 SOX2 PAX6
3 10.98 SOX2 PAX6
4 10.92 SOX2 PAX6 OTX2
5 10.43 SOX2 OTX2

GO Terms for Microphthalmia, Syndromic 8

Cellular components related to Microphthalmia, Syndromic 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 VSX2 SOX2 RAX PAX6 OTX2

Biological processes related to Microphthalmia, Syndromic 8 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.78 SOX2 RAX PAX6 OTX2
2 regulation of transcription, DNA-templated GO:0006355 9.65 VSX2 SOX2 RAX PAX6 OTX2
3 multicellular organism development GO:0007275 9.55 VSX2 SOX2 RAX PAX6 OTX2
4 response to wounding GO:0009611 9.52 SOX2 PAX6
5 cell fate commitment GO:0045165 9.51 SOX2 PAX6
6 visual perception GO:0007601 9.5 VSX2 RAX PAX6
7 negative regulation of epithelial cell proliferation GO:0050680 9.49 SOX2 PAX6
8 negative regulation of neuron differentiation GO:0045665 9.46 SOX2 PAX6
9 blood vessel development GO:0001568 9.43 STRA6 PAX6
10 eye development GO:0001654 9.4 SOX2 PAX6
11 pituitary gland development GO:0021983 9.37 SOX2 PAX6
12 forebrain development GO:0030900 9.13 SOX2 PAX6 OTX2
13 camera-type eye development GO:0043010 8.8 STRA6 RAX PAX6

Molecular functions related to Microphthalmia, Syndromic 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.65 VSX2 SOX2 RAX PAX6 OTX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 SOX2 RAX PAX6 OTX2
3 sequence-specific double-stranded DNA binding GO:1990837 9.46 VSX2 RAX PAX6 OTX2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 VSX2 SOX2 RAX PAX6 OTX2
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.92 SOX2 RAX PAX6 OTX2

Sources for Microphthalmia, Syndromic 8

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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