MCID: UVL009
MIFTS: 28

Uvula, Bifid

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Uvula, Bifid

MalaCards integrated aliases for Uvula, Bifid:

Name: Uvula, Bifid 58
Cleft Uvula 30 6
Bifidity of the Uvula 60
Uvula, Cleft 58
Uvular Cleft 60
Bifid Uvula 60

Characteristics:

Orphanet epidemiological data:

60
bifid uvula
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
uvula, bifid:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 192100
ICD10 34 Q35.7
ICD10 via Orphanet 35 Q35.7
UMLS via Orphanet 75 C0266122
Orphanet 60 ORPHA99771
MedGen 43 C4551488
SNOMED-CT via HPO 70 18910001 263681008 433096001

Summaries for Uvula, Bifid

MalaCards based summary : Uvula, Bifid, also known as cleft uvula, is related to cleft palate, isolated and loeys-dietz syndrome 1. An important gene associated with Uvula, Bifid is NSD1 (Nuclear Receptor Binding SET Domain Protein 1). Affiliated tissues include skin, and related phenotypes are bifid uvula and nasal, dysarthic speech

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

Human phenotypes related to Uvula, Bifid:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bifid uvula 60 33 obligate (100%) Obligate (100%) HP:0000193
2 nasal, dysarthic speech 60 33 frequent (33%) Frequent (79-30%) HP:0008376
3 submucous cleft soft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0011819
4 cleft lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0410030

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
bifid uvula

Clinical features from OMIM:

192100

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

27
# 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 30

Anatomical Context for Uvula, Bifid

MalaCards organs/tissues related to Uvula, Bifid:

42
Skin

Publications for Uvula, Bifid

Articles related to Uvula, Bifid:

(show all 18)
# Title Authors Year
1
Prevalence of cleft uvula among school children in kindergarten through grade five. ( 1547244 )
1992
2
[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
3
Lack of association of cleft uvula with otitis media in Apache Indian children. ( 3631018 )
1987
4
Cleft uvula. ( 3879421 )
1985
5
Cleft uvula: prevalence and genetics. ( 272244 )
1978
6
Prevalence of cleft uvula among 2,732 Danes. ( 267522 )
1977
7
Frequency of cleft uvula and submucous cleft palate in patients with Down's syndrome. ( 4276439 )
1974
8
The prevalence of cleft uvula in an Inuit population. ( 4432929 )
1974
9
Cleft uvula: a microform of facial clefts and its genetic basis. ( 5173247 )
1971
10
Nasality and cleft uvula. ( 5283312 )
1971
11
Prevalence of cleft uvula in British Columbia. ( 5286721 )
1971
12
Minor craniofacial anomalies among a Negro population. I. Prevalence of cleft uvula, commissural lip pits, preauricular pits, torus palatinus, and torus mandibularis. ( 5264900 )
1970
13
Cleft palate, cleft lip, and cleft uvula in Navajo indians: incidence and orhinolaryngologic problems. ( 5266341 )
1970
14
Cleft uvula: incidence in Negroes. ( 5270518 )
1970
15
Cleft uvula in Chippewa Indians: prevalence and genetics. ( 5445084 )
1970
16
Cleft uvula--a microform of cleft palate. ( 4161696 )
1966
17
ABNORMAL MORPHOLOGY OF THE SOFT PALATE. II. THE GENETICS OF CLEFT UVULA. ( 14232214 )
1965
18
ABNORMAL MORPHOLOGY OF THE SOFT PALATE. I. THE PREVALENCE OF CLEFT UVULA. ( 14192455 )
1964

Variations for Uvula, Bifid

ClinVar genetic disease variations for Uvula, Bifid:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh37 Chromosome 5, 176662864: 176662864
2 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh38 Chromosome 5, 177235863: 177235863
3 FGF14 NM_004115.3(FGF14): c.486dup (p.Arg163Glnfs) duplication Likely pathogenic GRCh37 Chromosome 13, 102379082: 102379083
4 FGF14 NM_004115.3(FGF14): c.486dup (p.Arg163Glnfs) duplication Likely pathogenic GRCh38 Chromosome 13, 101726733: 101726733

Expression for Uvula, Bifid

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

Pathways for Uvula, Bifid

GO Terms for Uvula, Bifid

Cellular components related to Uvula, Bifid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 8.8 GRHL3 NSD1 UBB

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.62 GRHL3 NSD1

Sources for Uvula, Bifid

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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