MAC
MCID: CLB026
MIFTS: 40

Colobomatous Microphthalmia (MAC)

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Colobomatous Microphthalmia

MalaCards integrated aliases for Colobomatous Microphthalmia:

Name: Colobomatous Microphthalmia 60 6
Microphthalmia-Anophthalmia-Coloboma Syndrome 60
Microphthalmia with Colobomatous Cyst 60
Microphthalmia and Mental Deficiency 74
Mac 60

Characteristics:

Orphanet epidemiological data:

60
colobomatous microphthalmia
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q11.2
UMLS via Orphanet 75 C2931501
Orphanet 60 ORPHA98938
UMLS 74 C2931500

Summaries for Colobomatous Microphthalmia

MalaCards based summary : Colobomatous Microphthalmia, also known as microphthalmia-anophthalmia-coloboma syndrome, is related to microphthalmia, isolated, with coloboma 6 and microphthalmia. An important gene associated with Colobomatous Microphthalmia is C12orf57 (Chromosome 12 Open Reading Frame 57), and among its related pathways/superpathways is the visual cycle I (vertebrates). Affiliated tissues include testes, skin and brain, and related phenotypes are mortality/aging and vision/eye

Related Diseases for Colobomatous Microphthalmia

Diseases related to Colobomatous Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated, with coloboma 6 31.6 GDF3 GDF6
2 microphthalmia 27.6 ABCB6 C12orf57 GDF3 GDF6 HMGB3 MAB21L2
3 macs syndrome 12.6
4 microphthalmia, syndromic 13 12.0
5 microphthalmia/coloboma and skeletal dysplasia syndrome 11.9
6 microphthalmia, isolated, with coloboma 4 11.7
7 mycobacterium avium complex infections 11.7
8 hypocomplementemic urticarial vasculitis 11.4
9 microphthalmia, syndromic 9 11.2
10 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.2
11 microphthalmia, isolated, with coloboma 3 11.2
12 microphthalmia, isolated, with coloboma 5 11.2
13 microphthalmia, isolated, with coloboma 7 11.2
14 microphthalmia, isolated, with coloboma 9 11.2
15 macdermot-winter syndrome 11.1
16 microcephaly 10.3
17 human immunodeficiency virus type 1 10.2
18 chromosome 2q35 duplication syndrome 10.2
19 cerebellar hypoplasia 10.2
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
21 ptosis 10.2
22 heart disease 10.2
23 kidney disease 10.2
24 legionnaires' disease 10.1
25 lung disease 10.1
26 temtamy syndrome 10.1 C12orf57 RNU7-1
27 spondylolisthesis 10.1
28 malignant syringoma 10.1
29 yellow fever 10.0
30 polymyositis 10.0
31 alcohol dependence 9.9
32 hemifacial microsomia with radial defects 9.9
33 treacher collins syndrome 1 9.9
34 hemifacial microsomia 9.9
35 small cell cancer of the lung 9.9
36 lung cancer 9.9
37 nasopharyngeal carcinoma 9.9
38 myocardial infarction 9.9
39 acute myocardial infarction 9.9
40 alopecia 9.9
41 cerebral palsy 9.9
42 glomerulonephritis 9.9
43 mastitis 9.9
44 japanese encephalitis 9.9
45 chlamydia 9.9
46 patulous eustachian tube 9.9
47 telangiectasis 9.9
48 squamous cell carcinoma 9.9
49 adenocarcinoma 9.9
50 encephalitis 9.9

Graphical network of the top 20 diseases related to Colobomatous Microphthalmia:



Diseases related to Colobomatous Microphthalmia

Symptoms & Phenotypes for Colobomatous Microphthalmia

MGI Mouse Phenotypes related to Colobomatous Microphthalmia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.61 ABCB6 C12orf57 GDF3 GDF6 MAB21L2 SHH
2 vision/eye MP:0005391 9.1 GDF6 MAB21L2 RBP4 SHH STRA6 VSX2

Drugs & Therapeutics for Colobomatous Microphthalmia

Search Clinical Trials , NIH Clinical Center for Colobomatous Microphthalmia

Genetic Tests for Colobomatous Microphthalmia

Anatomical Context for Colobomatous Microphthalmia

MalaCards organs/tissues related to Colobomatous Microphthalmia:

42
Testes, Skin, Brain, Eye, Breast, Thyroid, Bone

Publications for Colobomatous Microphthalmia

Articles related to Colobomatous Microphthalmia:

(show top 50) (show all 2125)
# Title Authors Year
1
Assessment of manual dysfunction in occupationally active women with carpal tunnel syndrome. ( 30860206 )
2019
2
Sleep disturbance and response to surgical decompression in patients with carpal tunnel syndrome: a prospective randomized pilot comparison of open versus endoscopic release. ( 30889160 )
2019
3
Factors determining the effectiveness of conservative treatment in patients with carpal tunnel syndrome. ( 30900696 )
2019
4
Prevalence of carpal tunnel syndrome symptoms among dentists working in Riyadh. ( 30905925 )
2019
5
The Effectiveness of Ultrasound-Guided Steroid Injection Combined with Miniscalpel-Needle Release in the Treatment of Carpal Tunnel Syndrome vs. Steroid Injection Alone: A Randomized Controlled Study. ( 30915366 )
2019
6
Nerve hydrodissection for carpal tunnel syndrome: A prospective, randomized, double-blind, controlled trial. ( 30339737 )
2019
7
Revision surgery in carpal tunnel syndrome: a retrospective study comparing the Canaletto® device alone versus a combination of Canaletto® and Dynavisc® gel. ( 30472072 )
2019
8
Cost-Effectiveness Evaluation of Manual Physical Therapy Versus Surgery for Carpal Tunnel Syndrome: Evidence From a Randomized Clinical Trial. ( 30501389 )
2019
9
Carpal tunnel syndrome due to hibernoma of the wrist: Case report. ( 30528551 )
2019
10
Correction to: Aromatase inhibitor-induced carpal tunnel syndrome: prevalence in daily practice. ( 30535957 )
2019
11
Variation in Nonsurgical Services for Carpal Tunnel Syndrome Across a Large Integrated Health Care System. ( 30579690 )
2019
12
Acetyl-L-Carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome: A Double-Blind, Randomized, Controlled Trial. ( 30589790 )
2019
13
Histopathologic Evaluation of Flexor Tenosynovium in Recurrent Carpal Tunnel Syndrome. ( 30589791 )
2019
14
The Use of Neuromuscular Ultrasound and NCS/EMG Testing in the Differential Diagnosis of Carpal Tunnel Syndrome and Radiculopathy. ( 30601727 )
2019
15
Local effects of acupuncture on the median and ulnar nerves in patients with carpal tunnel syndrome: a pilot mechanistic study protocol. ( 30611294 )
2019
16
Familial occurrence of carpal tunnel syndrome. ( 30620043 )
2019
17
Acute atraumatic carpal tunnel syndrome due to flexor tendon rupture following palmar plate osteosynthesis in a patient taking rivaroxaban. ( 30631915 )
2019
18
False-Positive Rates for Nerve Conduction Studies and Ultrasound in Patients Without Clinical Signs and Symptoms of Carpal Tunnel Syndrome. ( 30635201 )
2019
19
Role of Ultrasound to Monitor Patients With Carpal Tunnel Syndrome Treated With a Local Corticosteroid. ( 30653694 )
2019
20
Comparing Diagnostic and Treatment Recommendations of Carpal Tunnel Syndrome Available on the Internet With AAOS Clinical Practice Guidelines. ( 30654676 )
2019
21
Quantitative evaluation of hand motor function using a gyrosensor in mild and moderate carpal tunnel syndrome. ( 30677150 )
2019
22
Is manual therapy based on neurodynamic techniques effective in the treatment of carpal tunnel syndrome? A randomized controlled trial. ( 30688098 )
2019
23
"Carpal tunnel syndrome:" A bibliometric study of 35 years of research. ( 30688235 )
2019
24
Screening of Axonal Degeneration in Carpal Tunnel Syndrome Using Ultrasonography and Nerve Conduction Studies. ( 30688308 )
2019
25
Carpal tunnel release with versus without flexor retinaculum reconstruction for carpal tunnel syndrome at short- and long-term follow up-A meta-analysis of randomized controlled trials. ( 30689656 )
2019
26
Tendencies in the Post-surgical Approach for Carpal Tunnel Syndrome. Current Clinical Practice. ( 30691948 )
2019
27
The effects of cupping therapy as a new approach in the physiotherapeutic management of carpal tunnel syndrome. ( 30697914 )
2019
28
Unprecedented recurrence of carpal tunnel syndrome by metaplastic synovial cyst in the carpal tunnel. ( 30704837 )
2019
29
Short term effectiveness of platelet-rich plasma in carpal tunnel syndrome: A controlled study. ( 30707787 )
2019
30
A Comparative Multimetric Assessment of English and Spanish Carpal Tunnel Syndrome Materials. ( 30739070 )
2019
31
Recurrent and persistent carpal tunnel syndrome: predicting clinical outcome of revision surgery. ( 30771785 )
2019
32
Mycobacterium szulgai infection as a cause of carpal tunnel syndrome in a patient who kept a Mississippi mud turtle. ( 30786809 )
2019
33
The comparison of the effectiveness between different doses of local methylprednisolone injection versus triamcinolone in Carpal Tunnel Syndrome: a double-blind clinical trial. ( 30787634 )
2019
34
Role of Biomechanical Factors in Resolution of Carpal Tunnel Syndrome among a Population of Workers. ( 30789447 )
2019
35
Association between multiple trigger fingers, systemic diseases and carpal tunnel syndrome: A multivariate analysis. ( 30795997 )
2019
36
The controversy of the normal values of ultrasonography in carpal tunnel syndrome: diagnostic accuracy of wrist-dependent CSA revisited. ( 30796623 )
2019
37
Incidence of referred carpal tunnel syndrome and carpal tunnel release surgery in the general population: Increase over time and regional variations. ( 30798784 )
2019
38
Can ultrasound imaging be used for the diagnosis of carpal tunnel syndrome in diabetic patients? A systemic review and network meta-analysis. ( 30805796 )
2019
39
Effects of Exercise and Enzyme Therapy in Early Occupational Carpal Tunnel Syndrome: A Preliminary Study. ( 30809548 )
2019
40
Prognostic factors for response to treatment by corticosteroid injection or surgery in carpal tunnel syndrome (PaLMS study): a prospective multi-centre cohort study. ( 30815889 )
2019
41
A Comparison of PROMIS Physical Function and Pain Interference Scores in Patients With Carpal Tunnel Syndrome: Research Collection Versus Routine Clinical Collection. ( 30818982 )
2019
42
Quality of Randomized Controlled Trials for Surgical Treatment of Carpal Tunnel Syndrome: A Systematic Review. ( 30822284 )
2019
43
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. ( 30833571 )
2019
44
Electrophysiologic severity of carpal tunnel syndrome in diabetic patients of the Saudi population. ( 30842396 )
2019
45
Optimal Ultrasonographic Measurements for Diagnosing Carpal Tunnel Syndrome in Patients With Diabetic Sensorimotor Polyneuropathy: A Case-Control Study. ( 30852870 )
2019
46
A Comparison of 6 Diagnostic Tests for Carpal Tunnel Syndrome Using Latent Class Analysis. ( 30854901 )
2019
47
Upper extremity disability is associated with pain intensity and grip strength in women with bilateral idiopathic carpal tunnel syndrome. ( 30856127 )
2019
48
A case of herpes zoster infection mimicking carpal tunnel syndrome. ( 30860133 )
2019
49
Reliability of two-point discrimination test in carpal tunnel syndrome patients. ( 29482409 )
2019
50
Hand anthropometry in patients with carpal tunnel syndrome: a case-control study with a matched control group of healthy volunteers. ( 29802717 )
2019

Variations for Colobomatous Microphthalmia

ClinVar genetic disease variations for Colobomatous Microphthalmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776954 GRCh37 Chromosome 12, 7053285: 7053285
2 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776954 GRCh38 Chromosome 12, 6944122: 6944122

Expression for Colobomatous Microphthalmia

Search GEO for disease gene expression data for Colobomatous Microphthalmia.

Pathways for Colobomatous Microphthalmia

Pathways related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.36 RBP4 STRA6

GO Terms for Colobomatous Microphthalmia

Biological processes related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 GDF3 GDF6 HMGB3 MAB21L2 SHH VSX2
2 heart development GO:0007507 9.7 RBP4 SHH STRA6
3 lung development GO:0030324 9.58 RBP4 SHH STRA6
4 SMAD protein signal transduction GO:0060395 9.57 GDF3 GDF6
5 retinoid metabolic process GO:0001523 9.56 RBP4 STRA6
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.55 GDF3 GDF6
7 cognition GO:0050890 9.54 C12orf57 STRA6
8 skin development GO:0043588 9.51 ABCB6 SHH
9 camera-type eye development GO:0043010 9.5 MAB21L2 SHH STRA6
10 embryonic skeletal system development GO:0048706 9.49 RBP4 SHH
11 developmental growth GO:0048589 9.48 SHH STRA6
12 camera-type eye morphogenesis GO:0048593 9.46 C12orf57 TENM3
13 digestive tract morphogenesis GO:0048546 9.43 SHH STRA6
14 cell development GO:0048468 9.43 GDF3 GDF6 SHH
15 formation of anatomical boundary GO:0048859 9.16 GDF3 SHH
16 eye development GO:0001654 9.13 GDF3 MAB21L2 RBP4
17 retinol transport GO:0034633 8.62 RBP4 STRA6

Molecular functions related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 9.26 GDF3 GDF6
2 retinol binding GO:0019841 9.16 RBP4 STRA6
3 retinal binding GO:0016918 8.96 RBP4 STRA6
4 retinol transmembrane transporter activity GO:0034632 8.62 RBP4 STRA6

Sources for Colobomatous Microphthalmia

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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