COB1
MCID: CLB021
MIFTS: 21

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 58 76 30 6 41 74
Cob1 58 76
Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 60

Characteristics:

Orphanet epidemiological data:

60
uveal coloboma-cleft lip and palate-intellectual disability
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 cob1, is related to uveal coloboma-cleft lip and palate-intellectual disability. 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 ptosis and intellectual disability

Description 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 uveal coloboma-cleft lip and palate-intellectual disability 12.8

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:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
2 intellectual disability 60 33 occasional (7.5%) Frequent (79-30%) HP:0001249
3 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
4 microphthalmia 60 33 occasional (7.5%) Frequent (79-30%) HP:0000568
5 hematuria 60 33 occasional (7.5%) Frequent (79-30%) HP:0000790
6 cleft palate 33 occasional (7.5%) HP:0000175
7 cleft upper lip 33 occasional (7.5%) HP:0000204
8 nystagmus 60 Occasional (29-5%)
9 corneal opacity 60 Occasional (29-5%)
10 sensorineural hearing impairment 60 Very frequent (99-80%)
11 visual impairment 60 Occasional (29-5%)
12 optic atrophy 60 Occasional (29-5%)
13 strabismus 60 Occasional (29-5%)
14 chorioretinal coloboma 60 Very frequent (99-80%)
15 glaucoma 60 Occasional (29-5%)
16 retinal detachment 60 Occasional (29-5%)
17 posterior embryotoxon 60 Occasional (29-5%)
18 iris coloboma 60 Frequent (79-30%)
19 coloboma 33 HP:0000589
20 bilateral cleft lip and palate 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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 30

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:

42
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:

# Title Authors Year
1
Isolation and structure of the Enterococcus faecalis sex pheromone, cOB1, that induces conjugal transfer of the hemolysin/bacteriocin plasmids, pOB1 and pYI1. ( 7772836 )
1995

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 Variation Type Significance SNP ID Assembly Location
1 YAP1 NM_001130145.3(YAP1): c.1066G> T (p.Glu356Ter) single nucleotide variant Pathogenic rs587777250 GRCh38 Chromosome 11, 102223655: 102223655
2 YAP1 NM_001130145.3(YAP1): c.1066G> T (p.Glu356Ter) single nucleotide variant Pathogenic rs587777250 GRCh37 Chromosome 11, 102094386: 102094386

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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