MCOPCT1
MCID: MCR330
MIFTS: 18

Microphthalmia, Isolated, with Cataract 1 (MCOPCT1)

Categories: Rare diseases

Aliases & Classifications for Microphthalmia, Isolated, with Cataract 1

MalaCards integrated aliases for Microphthalmia, Isolated, with Cataract 1:

Name: Microphthalmia, Isolated, with Cataract 1 57 72
Microphthalmia with Cataract 1 57 53 13
Cataract, Congenital, with Microphthalmia; Catm 57
Cataract, Congenital, with Microphthalmia 57
Cataract Congenital with Microphthalmia 75
Congenital Cataract with Microphthalmia 53
Mcopct1 57
Catm 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (16p13.3)


HPO:

32
microphthalmia, isolated, with cataract 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 156850
MedGen 42 C1834919
UMLS 72 C1834919

Summaries for Microphthalmia, Isolated, with Cataract 1

MalaCards based summary : Microphthalmia, Isolated, with Cataract 1, also known as microphthalmia with cataract 1, is related to hepatocellular carcinoma and microphthalmia. An important gene associated with Microphthalmia, Isolated, with Cataract 1 is MCOPCT1 (Cataract, Congenital, With Microphthalmia). Affiliated tissues include liver, and related phenotypes are nystagmus and cataract

Wikipedia : 75 Congenital cataracts refers to a lens opacity present at birth. Congenital cataracts cover a broad... more...

More information from OMIM: 156850

Related Diseases for Microphthalmia, Isolated, with Cataract 1

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

# Related Disease Score Top Affiliating Genes
1 hepatocellular carcinoma 10.2
2 microphthalmia 10.2
3 cataract 10.2

Symptoms & Phenotypes for Microphthalmia, Isolated, with Cataract 1

Human phenotypes related to Microphthalmia, Isolated, with Cataract 1:

32
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 cataract 32 HP:0000518
3 strabismus 32 HP:0000486
4 microphthalmia 32 HP:0000568
5 miosis 32 HP:0000616

Symptoms via clinical synopsis from OMIM:

57
Eyes:
nystagmus
cataract
strabismus
microphthalmia
miosis

Clinical features from OMIM:

156850

Drugs & Therapeutics for Microphthalmia, Isolated, with Cataract 1

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Cataract 1

Genetic Tests for Microphthalmia, Isolated, with Cataract 1

Anatomical Context for Microphthalmia, Isolated, with Cataract 1

MalaCards organs/tissues related to Microphthalmia, Isolated, with Cataract 1:

41
Liver

Publications for Microphthalmia, Isolated, with Cataract 1

Articles related to Microphthalmia, Isolated, with Cataract 1:

(show all 31)
# Title Authors PMID Year
1
Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. 8
1427774 1992
2
Genetic heterogeneity of the syndrome: microphthalmia with congenital cararact. 8
4470902 1974
3
HEREDITARY CATARACTS AND MICROPHTHALMIA. 8
14064894 1963
4
Congenital microphthalmos. A pedigree of four affected siblings and an additional report of fortyfour sporadic cases. 8
14003391 1963
5
Engineering CatM, a LysR-Type Transcriptional Regulator, to Respond Synergistically to Two Effectors. 38
31159259 2019
6
Comparative Genomic Analysis of the Regulation of Aromatic Metabolism in Betaproteobacteria. 38
30984152 2019
7
The meaning of complementary, alternative and traditional medicine among the Indonesian psychology community: a pilot study. 38
28659233 2017
8
Synthesis of practical red fluorescent probe for cytoplasmic calcium ions with greatly improved cell-membrane permeability. 38
28491938 2017
9
lnc-β-Catm elicits EZH2-dependent β-catenin stabilization and sustains liver CSC self-renewal. 38
27239797 2016
10
Blue carbon in human-dominated estuarine and shallow coastal systems. 38
26531815 2016
11
A frequent, GxxxG-mediated, transmembrane association motif is optimized for the formation of interhelical Cα-H hydrogen bonds. 38
24569864 2014
12
Characterization and modeling of transcriptional cross-regulation in Acinetobacter baylyi ADP1. 38
23651250 2012
13
Constrained adiabatic trajectory method: a global integrator for explicitly time-dependent Hamiltonians. 38
22239768 2012
14
Development of a general time-dependent absorbing potential for the constrained adiabatic trajectory method. 38
21599048 2011
15
Inducer responses of BenM, a LysR-type transcriptional regulator from Acinetobacter baylyi ADP1. 38
19400783 2009
16
Diurnal photosynthesis, water use efficiency and light use efficiency of wheat under Mediterranean field conditions. 38
18972699 2008
17
Distinct effector-binding sites enable synergistic transcriptional activation by BenM, a LysR-type regulator. 38
17291527 2007
18
CatM regulation of the benABCDE operon: functional divergence of two LysR-type paralogs in Acinetobacter baylyi ADP1. 38
16517618 2006
19
Crystallization of the effector-binding domains of BenM and CatM, LysR-type transcriptional regulators from Acinetobacter sp. ADP1. 38
14684899 2004
20
Transcriptional cross-regulation of the catechol and protocatechuate branches of the beta-ketoadipate pathway contributes to carbon source-dependent expression of the Acinetobacter sp. strain ADP1 pobA gene. 38
12620848 2003
21
The benPK operon, proposed to play a role in transport, is part of a regulon for benzoate catabolism in Acinetobacter sp. strain ADP1. 38
11932465 2002
22
Mutations in catB, the gene encoding muconate cycloisomerase, activate transcription of the distal ben genes and contribute to a complex regulatory circuit in Acinetobacter sp. strain ADP1. 38
11092867 2000
23
Cloning and characterisation of the Sry-related transcription factor gene Sox8. 38
10684944 2000
24
SOLH, a human homologue of the Drosophila melanogaster small optic lobes gene is a member of the calpain and zinc-finger gene families and maps to human chromosome 16p13.3 near CATM (cataract with microphthalmia). 38
9722942 1998
25
Regulation of benzoate degradation in Acinetobacter sp. strain ADP1 by BenM, a LysR-type transcriptional activator. 38
9573203 1998
26
catM encodes a LysR-type transcriptional activator regulating catechol degradation in Acinetobacter calcoaceticus. 38
7592340 1995
27
Regulation of spvR gene expression of Salmonella virulence plasmid pKDSC50 in Salmonella choleraesuis serovar Choleraesuis. 38
8052129 1994
28
Analysis of duplicated gene sequences associated with tfdR and tfdS in Alcaligenes eutrophus JMP134. 38
8157603 1994
29
Nucleotide sequence and initial functional characterization of the clcR gene encoding a LysR family activator of the clcABD chlorocatechol operon in Pseudomonas putida. 38
8419291 1993
30
Characterization of Acinetobacter calcoaceticus catM, a repressor gene homologous in sequence to transcriptional activator genes. 38
2793826 1989
31
The assessment of analogical thinking modifiability among regular, special education, disadvantaged, and mentally retarded children. 38
4078185 1985

Variations for Microphthalmia, Isolated, with Cataract 1

Expression for Microphthalmia, Isolated, with Cataract 1

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

Pathways for Microphthalmia, Isolated, with Cataract 1

GO Terms for Microphthalmia, Isolated, with Cataract 1

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