MCOP1
MCID: MCR124
MIFTS: 40

Microphthalmia, Isolated 1 (MCOP1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Microphthalmia, Isolated 1

MalaCards integrated aliases for Microphthalmia, Isolated 1:

Name: Microphthalmia, Isolated 1 57 29 13 72
Isolated Microphthalmia 1 12 15
Mcop1 57 12
Microphthalmos, Autosomal Recessive 57
Anophthalmia, Clinical, Isolated 57
Mcop 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
also dominant forms


HPO:

32
microphthalmia, isolated 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060840
ICD10 33 Q11.0
MedGen 42 C1855052
UMLS 72 C1855052

Summaries for Microphthalmia, Isolated 1

OMIM : 57 Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). (251600)

MalaCards based summary : Microphthalmia, Isolated 1, also known as isolated microphthalmia 1, is related to microphthalmia, isolated 6 and microphthalmia, isolated 2. An important gene associated with Microphthalmia, Isolated 1 is MCOP1 (Microphthalmia, Autosomal Recessive), and among its related pathways/superpathways are Integrated Breast Cancer Pathway and IL-6 signaling pathway. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are microphthalmia and glaucoma

Disease Ontology : 12 A microphthalmia that has material basis in variation in the chromosomal region 14q32.

Related Diseases for Microphthalmia, Isolated 1

Graphical network of the top 20 diseases related to Microphthalmia, Isolated 1:



Diseases related to Microphthalmia, Isolated 1

Symptoms & Phenotypes for Microphthalmia, Isolated 1

Human phenotypes related to Microphthalmia, Isolated 1:

32
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 HP:0000568
2 glaucoma 32 HP:0000501
3 anophthalmia 32 HP:0000528
4 high hypermetropia 32 HP:0008499

Symptoms via clinical synopsis from OMIM:

57
H E E N T:
glaucoma
microphthalmos
nanophthalmos
high-grade hyperopia
anophthalmos

Clinical features from OMIM:

251600

MGI Mouse Phenotypes related to Microphthalmia, Isolated 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.9 CHRNG ETV1 ETV4 FOXO1 JUN KEAP1
2 embryo MP:0005380 9.87 CHRNG ETV4 FOXO1 JUN MITF SFN
3 integument MP:0010771 9.86 CHRNG ETV4 FOXO1 JUN KEAP1 MITF
4 no phenotypic analysis MP:0003012 9.43 ETV4 FOXO1 JUN MITF SOX2 VSX2
5 vision/eye MP:0005391 9.17 JUN MITF MTA1 PDE6D SFN SOX2

Drugs & Therapeutics for Microphthalmia, Isolated 1

Drugs for Microphthalmia, Isolated 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
3
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
4
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
5
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
6
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
7
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
8
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
9
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
10 Hormone Antagonists Phase 3
11 Tubulin Modulators Phase 3
12 Analgesics Phase 3
13 Prednisolone acetate Phase 3
14 Alkylating Agents Phase 3
15
Liposomal doxorubicin Phase 3 31703
16 Antineoplastic Agents, Phytogenic Phase 3
17 Anti-Inflammatory Agents Phase 3
18 glucocorticoids Phase 3
19 Methylprednisolone Acetate Phase 3
20 Anti-Bacterial Agents Phase 3
21 Immunosuppressive Agents Phase 3
22 Peripheral Nervous System Agents Phase 3
23 Hormones Phase 3
24 Antibiotics, Antitubercular Phase 3
25 Topoisomerase Inhibitors Phase 3
26 Antineoplastic Agents, Hormonal Phase 3
27 Immunologic Factors Phase 3
28 Antimitotic Agents Phase 3
29 Antirheumatic Agents Phase 3
30 Antineoplastic Agents, Alkylating Phase 3
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A RANDOMIZED PROSPECTIVE TRIAL OF CHOP VERSUS MCOP IN ELDERLY PATIENTS WITH INTERMEDIATE AND HIGH GRADE NON-HODGKIN'S LYMPHOMA (AGED 65 YEARS AND OVER) Completed NCT00002576 Phase 3 cyclophosphamide;doxorubicin hydrochloride;mitoxantrone hydrochloride;prednisolone;vincristine sulfate

Search NIH Clinical Center for Microphthalmia, Isolated 1

Genetic Tests for Microphthalmia, Isolated 1

Genetic tests related to Microphthalmia, Isolated 1:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 1 29

Anatomical Context for Microphthalmia, Isolated 1

MalaCards organs/tissues related to Microphthalmia, Isolated 1:

41
Eye

Publications for Microphthalmia, Isolated 1

Articles related to Microphthalmia, Isolated 1:

(show all 19)
# Title Authors PMID Year
1
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 8
15988238 2005
2
Hereditary high hypermetropia in the Faroe Islands. 8
15823920 2005
3
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 8
15389708 2005
4
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 8
12543751 2003
5
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32. 8
10413693 1999
6
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. 8
9545413 1998
7
Classification of microphthalmos and coloboma. 8
8411053 1993
8
Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice. 8
3685993 1987
9
Cell lineage ablation in transgenic mice by cell-specific expression of a toxin gene. 8
3649277 1987
10
Clinical anophthalmia. 8
7262867 1981
11
Primary anophthalmos histological and genetic features. 8
4820245 1974
12
A pedigree of anophthalmos. 8
13460221 1957
13
The occurrence of blindness in Norway. 8
14943764 1952
14
Congenital bilateral anophthalmia. 8
14846574 1951
15
Bilateral anophthalmos in a brother and sister. 8
20257300 1947
16
ANOPHTHALMOS: An unpublished Manuscript by James Briggs giving the first account of the familial occurrence of the condition. 8
18169220 1934
17
ANOPHTHALMIA AND MALDEVELOPMENT OF THE EYES: FOUR CASES IN THE SAME FAMILY. 8
18168084 1921
18
Constitutive photomorphogenesis protein 1 (COP1) and COP9 signalosome, evolutionarily conserved photomorphogenic proteins as possible targets of melatonin. 38
27121162 2016
19
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 38
19526372 2009

Variations for Microphthalmia, Isolated 1

Expression for Microphthalmia, Isolated 1

Search GEO for disease gene expression data for Microphthalmia, Isolated 1.

Pathways for Microphthalmia, Isolated 1

GO Terms for Microphthalmia, Isolated 1

Cellular components related to Microphthalmia, Isolated 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acetylcholine-gated channel complex GO:0005892 8.62 CHRNG CHRND

Biological processes related to Microphthalmia, Isolated 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 SOX2 MTA1 MITF JUN FOXO1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 SOX2 MITF JUN FOXO1 ETV4 ETV1
3 positive regulation of transcription, DNA-templated GO:0045893 9.72 SOX2 MITF JUN FOXO1 ETV1
4 synaptic transmission, cholinergic GO:0007271 9.46 CHRNG CHRND
5 neuronal stem cell population maintenance GO:0097150 9.43 SOX2 FOXO1
6 release of cytochrome c from mitochondria GO:0001836 9.4 SFN JUN
7 regulation of transcription, DNA-templated GO:0006355 9.28 VSX2 SOX2 MTA1 MITF KEAP1 JUN
8 transcription by RNA polymerase II GO:0006366 9.26 JUN ETV1
9 visual perception GO:0007601 9.26 VSX2 PDE6D CRYBB1 CRYBA4
10 positive regulation of DNA-templated transcription, initiation GO:2000144 9.16 MITF JUN

Molecular functions related to Microphthalmia, Isolated 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 VSX2 SOX2 MTA1 MITF JUN FOXO1
2 chromatin binding GO:0003682 9.78 MTA1 MITF JUN FOXO1
3 DNA-binding transcription factor activity GO:0003700 9.73 SOX2 MITF JUN FOXO1 ETV4 ETV1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 VSX2 SOX2 MTA1 MITF JUN FOXO1
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 MTA1 MITF JUN ETV4 ETV1
6 structural constituent of eye lens GO:0005212 9.46 CRYBB1 CRYBA4
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.43 CHRNG CHRND
8 acetylcholine binding GO:0042166 9.4 CHRNG CHRND
9 acetylcholine receptor activity GO:0015464 9.37 CHRNG CHRND
10 sequence-specific DNA binding GO:0043565 9.17 VSX2 SOX2 MTA1 JUN FOXO1 ETV4
11 protein binding GO:0005515 10.34 USP15 SOX2 SFN PDE6D MTA1 MITF

Sources for Microphthalmia, Isolated 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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