MCID: UVL009
MIFTS: 26

Uvula, Bifid

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Uvula, Bifid

MalaCards integrated aliases for Uvula, Bifid:

Name: Uvula, Bifid 57
Bifidity of the Uvula 59
Uvula, Cleft 57
Uvular Cleft 59
Bifid Uvula 59
Cleft Uvula 29

Characteristics:

Orphanet epidemiological data:

59
bifid uvula
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
uvula, bifid:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 192100
Orphanet 59 ORPHA99771
ICD10 via Orphanet 34 Q35.7
UMLS via Orphanet 74 C0266122
MedGen 42 C0266122
ICD10 33 Q35.7
SNOMED-CT via HPO 69 263681008 18910001 433096001

Summaries for Uvula, Bifid

MalaCards based summary : Uvula, Bifid, also known as bifidity of the uvula, is related to cleft palate, isolated and loeys-dietz syndrome 1. An important gene associated with Uvula, Bifid is GRHL3 (Grainyhead Like Transcription Factor 3). Affiliated tissues include skin, and related phenotypes are bifid uvula and cleft lip

Description from OMIM: 192100

Related Diseases for Uvula, Bifid

Graphical network of the top 20 diseases related to Uvula, Bifid:



Diseases related to Uvula, Bifid

Symptoms & Phenotypes for Uvula, Bifid

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
bifid uvula


Clinical features from OMIM:

192100

Human phenotypes related to Uvula, Bifid:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bifid uvula 59 32 obligate (100%) Obligate (100%) HP:0000193
2 cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0410030
3 submucous cleft soft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0011819
4 nasal, dysarthic speech 59 32 frequent (33%) Frequent (79-30%) HP:0008376

GenomeRNAi Phenotypes related to Uvula, Bifid according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 8.62 GRHL3 UBB

Drugs & Therapeutics for Uvula, Bifid

Search Clinical Trials , NIH Clinical Center for Uvula, Bifid

Genetic Tests for Uvula, Bifid

Genetic tests related to Uvula, Bifid:

# Genetic test Affiliating Genes
1 Cleft Uvula 29

Anatomical Context for Uvula, Bifid

MalaCards organs/tissues related to Uvula, Bifid:

41
Skin

Publications for Uvula, Bifid

Articles related to Uvula, Bifid:

# Title Authors Year
1
[Palmoplantar epidermal atrophy with hypokeratosis, dys- and hypotrichosis, hypodontia, enamel and dentin hypoplasia, isolated cleft palate with cleft uvula, strabismus cryptorchism and other anomalies--an undescribed ecto-mesodermal dysplasia?]. ( 1677642 )
1991
2
Cleft uvula: prevalence and genetics. ( 272244 )
1978
3
Minor craniofacial anomalies among a Negro population. I. Prevalence of cleft uvula, commissural lip pits, preauricular pits, torus palatinus, and torus mandibularis. ( 5264900 )
1970

Variations for Uvula, Bifid

Expression for Uvula, Bifid

Search GEO for disease gene expression data for Uvula, Bifid.

Pathways for Uvula, Bifid

GO Terms for Uvula, Bifid

Biological processes related to Uvula, Bifid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 8.62 GRHL3 UBB

Sources for Uvula, Bifid

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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