MCOP1
MCID: MCR124
MIFTS: 35

Microphthalmia, Isolated 1 (MCOP1)

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

Aliases & Classifications for Microphthalmia, Isolated 1

MalaCards integrated aliases for Microphthalmia, Isolated 1:

Name: Microphthalmia, Isolated 1 56 29 13 71
Isolated Microphthalmia 1 12 15
Mcop1 56 12
Microphthalmos, Autosomal Recessive 56
Anophthalmia, Clinical, Isolated 56
Mcop 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
also dominant forms


HPO:

31
microphthalmia, isolated 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060840
OMIM 56 251600
OMIM Phenotypic Series 56 PS251600
ICD10 32 Q11.0
MedGen 41 C1855052
UMLS 71 C1855052

Summaries for Microphthalmia, Isolated 1

OMIM : 56 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 isolated microphthalmia and microphthalmia, isolated 2. An important gene associated with Microphthalmia, Isolated 1 is MCOP1 (Microphthalmia, Autosomal Recessive), and among its related pathways/superpathways is Postsynaptic nicotinic acetylcholine receptors. The drugs Vincristine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are glaucoma and anophthalmia

Disease Ontology : 12 An isolated 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:

31
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 HP:0000501
2 anophthalmia 31 HP:0000528
3 microphthalmia 31 HP:0000568
4 high hypermetropia 31 HP:0008499

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
glaucoma
microphthalmos
nanophthalmos
high-grade hyperopia
anophthalmos

Clinical features from OMIM:

251600

Drugs & Therapeutics for Microphthalmia, Isolated 1

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
2
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
3
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
4
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
5
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
6
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
9 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
10
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
11 Antibiotics, Antitubercular Phase 3
12 Immunologic Factors Phase 3
13
Liposomal doxorubicin Phase 3 31703
14 Methylprednisolone Acetate Phase 3
15 Antineoplastic Agents, Hormonal Phase 3
16 Hormones Phase 3
17 Immunosuppressive Agents Phase 3
18 Alkylating Agents Phase 3
19 Hormone Antagonists Phase 3
20 Tubulin Modulators Phase 3
21 Analgesics Phase 3
22 Anti-Bacterial Agents Phase 3
23 glucocorticoids Phase 3
24 Anti-Inflammatory Agents Phase 3
25 Antirheumatic Agents Phase 3
26 Antimitotic Agents 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:

40
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. 56
15988238 2005
2
Hereditary high hypermetropia in the Faroe Islands. 56
15823920 2005
3
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 56
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. 56
12543751 2003
5
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32. 56
10413693 1999
6
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. 56
9545413 1998
7
Classification of microphthalmos and coloboma. 56
8411053 1993
8
Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice. 56
3685993 1987
9
Cell lineage ablation in transgenic mice by cell-specific expression of a toxin gene. 56
3649277 1987
10
Clinical anophthalmia. 56
7262867 1981
11
Primary anophthalmos histological and genetic features. 56
4820245 1974
12
A pedigree of anophthalmos. 56
13460221 1957
13
The occurrence of blindness in Norway. 56
14943764 1952
14
Congenital bilateral anophthalmia. 56
14846574 1951
15
Bilateral anophthalmos in a brother and sister. 56
20257300 1947
16
ANOPHTHALMOS: An unpublished Manuscript by James Briggs giving the first account of the familial occurrence of the condition. 56
18169220 1934
17
ANOPHTHALMIA AND MALDEVELOPMENT OF THE EYES: FOUR CASES IN THE SAME FAMILY. 56
18168084 1921
18
Constitutive photomorphogenesis protein 1 (COP1) and COP9 signalosome, evolutionarily conserved photomorphogenic proteins as possible targets of melatonin. 61
27121162 2016
19
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 61
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 regulation of membrane potential GO:0042391 9.48 CHRNG CHRND
2 muscle contraction GO:0006936 9.46 CHRNG CHRND
3 excitatory postsynaptic potential GO:0060079 9.43 CHRNG CHRND
4 regulation of postsynaptic membrane potential GO:0060078 9.4 CHRNG CHRND
5 nervous system process GO:0050877 9.37 CHRNG CHRND
6 lens development in camera-type eye GO:0002088 9.32 CRYBB1 CRYBA4
7 response to nicotine GO:0035094 9.26 CHRNG CHRND
8 neuromuscular synaptic transmission GO:0007274 9.16 CHRNG CHRND
9 synaptic transmission, cholinergic GO:0007271 8.96 CHRNG CHRND
10 visual perception GO:0007601 8.8 VSX2 CRYBB1 CRYBA4

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 9.37 CHRNG CHRND
2 extracellular ligand-gated ion channel activity GO:0005230 9.32 CHRNG CHRND
3 structural constituent of eye lens GO:0005212 9.26 CRYBB1 CRYBA4
4 acetylcholine binding GO:0042166 9.16 CHRNG CHRND
5 acetylcholine-gated cation-selective channel activity GO:0022848 8.96 CHRNG CHRND
6 acetylcholine receptor activity GO:0015464 8.62 CHRNG CHRND

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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