COB1
MCID: CLB021
MIFTS: 28

Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation (COB1)

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

Aliases & Classifications for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

MalaCards integrated aliases for Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation:

Name: Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 56 73 29 6 39 71
Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 12 52 58
Cob1 56 12 73
Coloboma-Microphthalmos Syndrome Associated with Sensorineural Hearing Loss, Hematuria, and Cleft Lip/palate 12 52
Coloboma-Microphthalmos Syndrome 12 52
Ocular Coloboma with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 12
Uveal Coloboma-Cleft Lip/palate-Mental Retardation Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
uveal coloboma-cleft lip and palate-intellectual disability
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

UniProtKB/Swiss-Prot : 73 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation: An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest mental retardation of varying degree and/or sensorineural, mid-frequency hearing loss.

MalaCards based summary : Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation, also known as uveal coloboma-cleft lip and palate-intellectual disability, is related to coloboma of macula and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation is YAP1 (Yes Associated Protein 1). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and chorioretinal coloboma

Disease Ontology : 12 A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has material basis in heterozygous mutation in YAP1 on 11q22.1.

More information from OMIM: 120433

Related Diseases for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

Diseases related to Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.2
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 sensorineural hearing loss 10.2
4 cleft lip 10.2
5 cleft lip/palate 10.2

Graphical network of the top 20 diseases related to Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation:



Diseases related to Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation

Symptoms & Phenotypes for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

Human phenotypes related to Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 chorioretinal coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000567
3 intellectual disability 58 31 occasional (7.5%) Frequent (79-30%) HP:0001249
4 hematuria 58 31 occasional (7.5%) Frequent (79-30%) HP:0000790
5 microphthalmia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000568
6 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
7 bilateral cleft lip and palate 58 31 frequent (33%) Frequent (79-30%) HP:0002744
8 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
9 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
10 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
12 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
13 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
14 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
16 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
17 posterior embryotoxon 58 31 occasional (7.5%) Occasional (29-5%) HP:0000627
18 cleft palate 31 occasional (7.5%) HP:0000175
19 cleft upper lip 31 occasional (7.5%) HP:0000204
20 coloboma 31 HP:0000589

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
mental retardation (in some patients)

Head And Neck Eyes:
uveal coloboma
microphthalmia (in some patients)
impairment of extraocular movement (in some patients)
cataract (in some patients)
ptosis (rare)

Genitourinary Kidneys:
hematuria (in some patients)

Head And Neck Ears:
hearing loss, sensorineural, mid-frequency (in some patients)

Head And Neck Mouth:
cleft lip (in some patients)
cleft palate (in some patients)

Clinical features from OMIM:

120433

Drugs & Therapeutics for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

Search Clinical Trials , NIH Clinical Center for Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation

Genetic Tests for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

Genetic tests related to Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation:

# Genetic test Affiliating Genes
1 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 29 YAP1

Anatomical Context for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

MalaCards organs/tissues related to Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation:

40
Eye

Publications for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

Articles related to Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation:

(show all 18)
# Title Authors PMID Year
1
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. 56 6
24462371 2014
2
Uveal colobomata and other anomalies in three generations of one family. 56 6
4997531 1971
3
Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. 56
9382148 1997
4
An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation. 56
7154042 1982
5
Pheromone peptide cOB1 from native Enterococcus faecalis forms amyloid-like structures: A new paradigm for peptide pheromones. 61
31317612 2019
6
The fission yeast Schizosaccharomyces pombe Mtf2 is required for mitochondrial cox1 gene expression. 61
29458562 2018
7
Indole-3-butyric acid synthesis in ecotypes and mutants of Arabidopsis thaliana under different growth conditions. 61
16325963 2007
8
Fusion of fungicidal peptide dhvar4 to enterococcal peptide pheromone increases its bactericidal activity against Enterococcus faecalis. 61
17105486 2006
9
Identification and characterization of a determinant (eep) on the Enterococcus faecalis chromosome that is involved in production of the peptide sex pheromone cAD1. 61
10498702 1999
10
Oxygen sensing in yeast: evidence for the involvement of the respiratory chain in regulating the transcription of a subset of hypoxic genes. 61
10318903 1999
11
Isolation and structure of the Enterococcus faecalis sex pheromone, cOB1, that induces conjugal transfer of the hemolysin/bacteriocin plasmids, pOB1 and pYI1. 61
7772836 1995
12
Transposable group II introns in fission and budding yeast. Site-specific genomic instabilities and formation of group II IVS plDNAs. 61
7932746 1994
13
Evidence that the hemolysin/bacteriocin phenotype of Enterococcus faecalis subsp. zymogenes can be determined by plasmids in different incompatibility groups as well as by the chromosome. 61
1459967 1992
14
Stereoselective arginine binding is a phylogenetically conserved property of group I self-splicing RNAs. 61
2531082 1989
15
Assembly of the mitochondrial membrane system. DNA sequence and organization of the cytochrome b gene in Saccharomyces cerevisiae D273-10B. 61
6253454 1980
16
Assembly of the mitochondrial membrane system. Complete restriction map of the cytochrome b region of mitochondrial DNA in Saccharomyces cerevisiae D273-10B. 61
6253453 1980
17
Regulatory interaction between mitochondrial genes. II. Detailed characterization of novel mutants mapping within one cluster in the cob2 region. 61
218940 1979
18
Mitochondrial heredity of resistance to 3-(3,4-dichlorophenyl)-1,1-dimethylurea, an inhibitor of cytochrome b oxidation, in Saccharomyces cerevisiae. 61
323014 1977

Variations for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

ClinVar genetic disease variations for Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 YAP1 NM_001130145.3(YAP1):c.1066G>T (p.Glu356Ter)SNV Pathogenic 120327 rs587777250 11:102094386-102094386 11:102223655-102223655
2 YAP1 NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser)SNV Likely benign 802714 11:102076653-102076653 11:102205922-102205922

Expression for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

Search GEO for disease gene expression data for Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation.

Pathways for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

GO Terms for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

Sources for Coloboma, Ocular, with or Without Hearing Impairment, Cleft...

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