MCOP1
MCID: MCR124
MIFTS: 40

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 57 29 13 71
Anophthalmia, Clinical, Isolated 57 6
Isolated Microphthalmia 1 12 15
Mcop1 57 12
Microphthalmos, Autosomal Recessive 57
Mcop 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
also dominant forms


HPO:

31
microphthalmia, isolated 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060840
OMIM® 57 251600
OMIM Phenotypic Series 57 PS251600
ICD10 32 Q11.0
MedGen 41 C1855052
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Microphthalmia, Isolated 1, also known as anophthalmia, clinical, isolated, is related to microphthalmia, isolated 2 and microphthalmia, isolated 6. An important gene associated with Microphthalmia, Isolated 1 is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways is Postsynaptic nicotinic acetylcholine receptors. The drugs Vincristine and Prednisolone phosphate 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

Diseases in the Isolated Microphthalmia family:

Microphthalmia, Isolated 1 Microphthalmia, Isolated 2
Microphthalmia, Isolated 3 Microphthalmia, Isolated 5
Microphthalmia, Isolated 4 Microphthalmia, Isolated 6
Microphthalmia, Isolated 7 Microphthalmia, Isolated 8

Diseases related to Microphthalmia, Isolated 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 2 11.3
2 microphthalmia, isolated 6 11.0
3 spinal muscular atrophy 10.3
4 muscular atrophy 10.3
5 autosomal recessive disease 10.1
6 lens subluxation 10.1 VSX2 CRYBA4
7 syndromic microphthalmia 10.0 VSX2 CRYBA4
8 cataract 17, multiple types 10.0 CRYBB1 CRYBA4
9 colobomatous microphthalmia 10.0 VSX2 CRYBA4
10 abruzzo-erickson syndrome 10.0 CRYBB1 CRYBA4
11 cataract microcornea syndrome 10.0 CRYBB1 CRYBA4
12 nance-horan syndrome 10.0 CRYBB1 CRYBA4
13 axenfeld-rieger syndrome, type 3 10.0 VSX2 CRYBB1
14 neuromuscular disease 9.9
15 alopecia 9.9
16 cystic lymphangioma 9.9 CHRNG CHRND
17 multiple pterygium syndrome, lethal type 9.9 CHRNG CHRND
18 lens disease 9.9 CRYBB1 CRYBA4
19 isolated microphthalmia 9.9 VSX2 MCOP1 CRYBA4
20 neuromuscular junction disease 9.9 CHRNG CHRND
21 oligohydramnios 9.8 CHRNG CHRND
22 cataract 9.8 VSX2 CRYBB1 CRYBA4
23 aniridia 1 9.8 VSX2 CRYBB1 CRYBA4
24 anterior segment dysgenesis 9.8 VSX2 CRYBB1 CRYBA4
25 multiple pterygium syndrome, escobar variant 9.8 CHRNG CHRND
26 early-onset non-syndromic cataract 9.8 CRYBB1 CRYBA4
27 tobacco addiction 9.7 CHRNG CHRND
28 fetal akinesia deformation sequence 1 9.6 CHRNG CHRND

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®:

57 (Updated 05-Mar-2021)
H E E N T:
glaucoma
microphthalmos
nanophthalmos
high-grade hyperopia
anophthalmos

Clinical features from OMIM®:

251600 (Updated 05-Mar-2021)

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 2068-78-2, 57-22-7 5978
2
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
3 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
4
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
5
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
6
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
7
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
10
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
11 Immunosuppressive Agents Phase 3
12 Antibiotics, Antitubercular Phase 3
13 Antimitotic Agents Phase 3
14 Methylprednisolone Acetate Phase 3
15 Anti-Inflammatory Agents Phase 3
16 Immunologic Factors Phase 3
17 Hormones Phase 3
18 Hormone Antagonists Phase 3
19 Antirheumatic Agents Phase 3
20 Anti-Bacterial Agents Phase 3
21 Antineoplastic Agents, Hormonal Phase 3
22 Tubulin Modulators Phase 3
23 glucocorticoids Phase 3
24 Analgesics Phase 3
25
Liposomal doxorubicin Phase 3 31703
26 Alkylating 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 23)
# Title Authors PMID Year
1
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 6
17661825 2007
2
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 57
15988238 2005
3
Hereditary high hypermetropia in the Faroe Islands. 57
15823920 2005
4
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 57
15389708 2005
5
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 6
15257456 2004
6
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 57
12543751 2003
7
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Percin EF, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AMV, Kalnins VI, Kocak-Altintas A, Sowden JC, Trabousli E, Sarfarazi M, McInnes RR.*(1) Nat Gen 2000;25:397-401. 6
11341888 2001
8
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32. 57
10413693 1999
9
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. 57
9545413 1998
10
Classification of microphthalmos and coloboma. 57
8411053 1993
11
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 6
3378363 1988
12
Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice. 57
3685993 1987
13
Cell lineage ablation in transgenic mice by cell-specific expression of a toxin gene. 57
3649277 1987
14
Clinical anophthalmia. 57
7262867 1981
15
Primary anophthalmos histological and genetic features. 57
4820245 1974
16
A pedigree of anophthalmos. 57
13460221 1957
17
The occurrence of blindness in Norway. 57
14943764 1952
18
Congenital bilateral anophthalmia. 57
14846574 1951
19
Bilateral anophthalmos in a brother and sister. 57
20257300 1947
20
ANOPHTHALMOS: An unpublished Manuscript by James Briggs giving the first account of the familial occurrence of the condition. 57
18169220 1934
21
ANOPHTHALMIA AND MALDEVELOPMENT OF THE EYES: FOUR CASES IN THE SAME FAMILY. 57
18168084 1921
22
Constitutive photomorphogenesis protein 1 (COP1) and COP9 signalosome, evolutionarily conserved photomorphogenic proteins as possible targets of melatonin. 61
27121162 2016
23
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

ClinVar genetic disease variations for Microphthalmia, Isolated 1:

6 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VSX2 NM_182894.3(VSX2):c.397C>T (p.Arg133Ter) SNV Pathogenic 933553 14:74707911-74707911 14:74241208-74241208
2 VSX2 NM_182894.3(VSX2):c.210del (p.Ala71fs) Deletion Pathogenic 937573 14:74706471-74706471 14:74239768-74239768
3 VSX2 CHX10, 4-KB DEL, EXON 3 Deletion Pathogenic 14863
4 VSX2 NC_000014.9:g.(?_74239552)_(74245298_?)del Deletion Pathogenic 645368 14:74706255-74712001 14:74239552-74245298
5 VSX2 NM_182894.3(VSX2):c.267del (p.Gln90fs) Deletion Pathogenic 849052 14:74706531-74706531 14:74239828-74239828
6 VSX2 NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) SNV Pathogenic/Likely pathogenic 14861 rs121912543 14:74726324-74726324 14:74259621-74259621
7 VSX2 NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) SNV Conflicting interpretations of pathogenicity 285031 rs375294678 14:74706508-74706508 14:74239805-74239805
8 VSX2 NM_182894.3(VSX2):c.171C>G (p.Ala57=) SNV Conflicting interpretations of pathogenicity 706589 rs201395979 14:74706435-74706435 14:74239732-74239732
9 VSX2 NM_182894.3(VSX2):c.504C>T (p.Asn168=) SNV Conflicting interpretations of pathogenicity 468359 rs550984628 14:74711916-74711916 14:74245213-74245213
10 VSX2 NM_182894.3(VSX2):c.939T>A (p.Ala313=) SNV Conflicting interpretations of pathogenicity 314203 rs372651860 14:74727475-74727475 14:74260772-74260772
11 VSX2 NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) SNV Conflicting interpretations of pathogenicity 468358 rs61747367 14:74706426-74706426 14:74239723-74239723
12 VSX2 NM_182894.3(VSX2):c.699C>T (p.Pro233=) SNV Conflicting interpretations of pathogenicity 705711 rs141712104 14:74726424-74726424 14:74259721-74259721
13 VSX2 NM_182894.3(VSX2):c.249G>A (p.Gly83=) SNV Conflicting interpretations of pathogenicity 706510 rs751526974 14:74706513-74706513 14:74239810-74239810
14 VSX2 NM_182894.3(VSX2):c.579G>A (p.Gln193=) SNV Conflicting interpretations of pathogenicity 314195 rs182972044 14:74711991-74711991 14:74245288-74245288
15 VSX2 NM_182894.3(VSX2):c.750G>A (p.Pro250=) SNV Conflicting interpretations of pathogenicity 314196 rs192712847 14:74726475-74726475 14:74259772-74259772
16 VSX2 NM_182894.3(VSX2):c.564G>A (p.Pro188=) SNV Conflicting interpretations of pathogenicity 738345 rs201354547 14:74711976-74711976 14:74245273-74245273
17 VSX2 NM_182894.3(VSX2):c.649G>C (p.Ala217Pro) SNV Uncertain significance 885150 14:74726374-74726374 14:74259671-74259671
18 VSX2 NM_182894.3(VSX2):c.*70C>T SNV Uncertain significance 886119 14:74727692-74727692 14:74260989-74260989
19 VSX2 NM_182894.3(VSX2):c.*150G>C SNV Uncertain significance 886120 14:74727772-74727772 14:74261069-74261069
20 VSX2 NM_182894.3(VSX2):c.*250C>G SNV Uncertain significance 886121 14:74727872-74727872 14:74261169-74261169
21 VSX2 NM_182894.3(VSX2):c.*1640T>C SNV Uncertain significance 886252 14:74729262-74729262 14:74262559-74262559
22 VSX2 NM_182894.3(VSX2):c.*1718T>C SNV Uncertain significance 886253 14:74729340-74729340 14:74262637-74262637
23 VSX2 NM_182894.3(VSX2):c.370+3A>G SNV Uncertain significance 886991 14:74706637-74706637 14:74239934-74239934
24 VSX2 NM_182894.3(VSX2):c.371-14C>T SNV Uncertain significance 886992 14:74707871-74707871 14:74241168-74241168
25 VSX2 NM_182894.3(VSX2):c.455+3G>T SNV Uncertain significance 886993 14:74707972-74707972 14:74241269-74241269
26 VSX2 NM_182894.3(VSX2):c.921G>T (p.Ala307=) SNV Uncertain significance 314202 rs768286032 14:74727457-74727457 14:74260754-74260754
27 VSX2 NM_182894.3(VSX2):c.*1757A>T SNV Uncertain significance 314232 rs886050745 14:74729379-74729379 14:74262676-74262676
28 VSX2 NM_182894.3(VSX2):c.-68G>C SNV Uncertain significance 314189 rs886050734 14:74706197-74706197 14:74239494-74239494
29 VSX2 NM_182894.3(VSX2):c.*1521T>C SNV Uncertain significance 314227 rs886050742 14:74729143-74729143 14:74262440-74262440
30 VSX2 NM_182894.3(VSX2):c.810C>G (p.Pro270=) SNV Uncertain significance 314199 rs759166720 14:74727346-74727346 14:74260643-74260643
31 VSX2 NM_182894.3(VSX2):c.*1753C>T SNV Uncertain significance 314231 rs886050744 14:74729375-74729375 14:74262672-74262672
32 VSX2 NM_182894.3(VSX2):c.*250C>T SNV Uncertain significance 314210 rs144569223 14:74727872-74727872 14:74261169-74261169
33 VSX2 NM_182894.3(VSX2):c.*11G>A SNV Uncertain significance 314204 rs140814896 14:74727633-74727633 14:74260930-74260930
34 VSX2 NM_182894.3(VSX2):c.*1764A>G SNV Uncertain significance 314233 rs886050746 14:74729386-74729386 14:74262683-74262683
35 VSX2 NM_182894.3(VSX2):c.*1565G>A SNV Uncertain significance 314229 rs142543750 14:74729187-74729187 14:74262484-74262484
36 VSX2 NM_182894.3(VSX2):c.*45T>C SNV Uncertain significance 314207 rs546717162 14:74727667-74727667 14:74260964-74260964
37 VSX2 NM_182894.3(VSX2):c.421A>T (p.Asn141Tyr) SNV Uncertain significance 834181 14:74707935-74707935 14:74241232-74241232
38 VSX2 NM_182894.3(VSX2):c.821G>A (p.Arg274His) SNV Uncertain significance 593873 rs369647679 14:74727357-74727357 14:74260654-74260654
39 VSX2 NM_182894.3(VSX2):c.803G>A (p.Arg268Lys) SNV Uncertain significance 536259 rs1311702446 14:74727339-74727339 14:74260636-74260636
40 VSX2 NM_182894.3(VSX2):c.1013_1015AGG[3] (p.Glu341del) Microsatellite Uncertain significance 574909 rs144220788 14:74727548-74727550 14:74260845-74260847
41 VSX2 NM_182894.3(VSX2):c.638G>A (p.Ser213Asn) SNV Uncertain significance 660623 rs1318485889 14:74726363-74726363 14:74259660-74259660
42 VSX2 NM_182894.3(VSX2):c.306C>A (p.Ser102Arg) SNV Uncertain significance 314193 rs886050737 14:74706570-74706570 14:74239867-74239867
43 VSX2 NM_182894.3(VSX2):c.533G>A (p.Arg178Gln) SNV Uncertain significance 314194 rs886050738 14:74711945-74711945 14:74245242-74245242
44 VSX2 NM_182894.3(VSX2):c.*855G>A SNV Uncertain significance 314216 rs45608043 14:74728477-74728477 14:74261774-74261774
45 VSX2 NM_182894.3(VSX2):c.777G>A (p.Ser259=) SNV Uncertain significance 314197 rs371707151 14:74727313-74727313 14:74260610-74260610
46 VSX2 NM_182894.3(VSX2):c.*1511C>T SNV Uncertain significance 314226 rs145366747 14:74729133-74729133 14:74262430-74262430
47 VSX2 NM_182894.3(VSX2):c.*13T>G SNV Uncertain significance 314205 rs886050739 14:74727635-74727635 14:74260932-74260932
48 VSX2 NM_182894.3(VSX2):c.*1447C>G SNV Uncertain significance 314225 rs886050741 14:74729069-74729069 14:74262366-74262366
49 VSX2 NM_182894.3(VSX2):c.*775A>G SNV Uncertain significance 314215 rs886050740 14:74728397-74728397 14:74261694-74261694
50 VSX2 NM_182894.3(VSX2):c.-54G>A SNV Uncertain significance 314190 rs565838448 14:74706211-74706211 14:74239508-74239508

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

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 9.4 CHRNG CHRND
2 muscle contraction GO:0006936 9.37 CHRNG CHRND
3 excitatory postsynaptic potential GO:0060079 9.32 CHRNG CHRND
4 nervous system process GO:0050877 9.26 CHRNG CHRND
5 regulation of postsynaptic membrane potential GO:0060078 9.16 CHRNG CHRND
6 lens development in camera-type eye GO:0002088 8.96 CRYBB1 CRYBA4
7 visual perception GO:0007601 8.92 VSX2 PDE6D 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 9.26 CHRNG CHRND
2 extracellular ligand-gated ion channel activity GO:0005230 9.16 CHRNG CHRND
3 structural constituent of eye lens GO:0005212 8.96 CRYBB1 CRYBA4
4 acetylcholine-gated cation-selective channel activity GO:0022848 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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