COB1
MCID: CLB021
MIFTS: 19

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

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental 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 57 75 29 6 40 73
Cob1 57 75
Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 59

Characteristics:

Orphanet epidemiological data:

59
uveal coloboma-cleft lip and palate-intellectual disability
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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 : 75 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). Related phenotypes are ptosis and cataract

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 12.6

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
3 microphthalmia 59 32 occasional (7.5%) Frequent (79-30%) HP:0000568
4 hematuria 59 32 occasional (7.5%) Frequent (79-30%) HP:0000790
5 intellectual disability 59 32 occasional (7.5%) Frequent (79-30%) HP:0001249
6 sensorineural hearing impairment 59 Very frequent (99-80%)
7 strabismus 59 Occasional (29-5%)
8 glaucoma 59 Occasional (29-5%)
9 visual impairment 59 Occasional (29-5%)
10 retinal detachment 59 Occasional (29-5%)
11 chorioretinal coloboma 59 Very frequent (99-80%)
12 iris coloboma 59 Frequent (79-30%)
13 posterior embryotoxon 59 Occasional (29-5%)
14 nystagmus 59 Occasional (29-5%)
15 optic atrophy 59 Occasional (29-5%)
16 bilateral cleft lip and palate 59 Frequent (79-30%)
17 corneal opacity 59 Occasional (29-5%)
18 cleft palate 32 occasional (7.5%) HP:0000175
19 cleft upper lip 32 occasional (7.5%) HP:0000204

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...

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

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_001130145.2(YAP1): c.1066G> T (p.Glu356Ter) single nucleotide variant Pathogenic rs587777250 GRCh38 Chromosome 11, 102223655: 102223655
2 YAP1 NM_001130145.2(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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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