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 56
Cleft Uvula 29 6 32
Bifidity of the Uvula 58
Uvula, Cleft 56
Uvular Cleft 58
Bifid Uvula 58

Characteristics:

Orphanet epidemiological data:

58
bifid uvula
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
uvula, bifid:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 192100
ICD10 32 Q35.7
ICD10 via Orphanet 33 Q35.7
UMLS via Orphanet 72 C0266122
Orphanet 58 ORPHA99771
MedGen 41 C4551488
SNOMED-CT via HPO 68 18910001 263681008

Summaries for Uvula, Bifid

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

More information from OMIM: 192100

Related Diseases for Uvula, Bifid

Diseases related to Uvula, Bifid via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 30.2 NSD1 GRHL3
2 submucosal cleft palate 29.4 UBB GRHL3
3 loeys-dietz syndrome 1 11.6
4 congenital disorder of glycosylation, type it 11.6
5 loeys-dietz syndrome 5 11.6
6 pallister-hall syndrome 11.5
7 limb-mammary syndrome 11.5
8 loeys-dietz syndrome 3 11.5
9 spastic paraplegia 81, autosomal recessive 11.5
10 loeys-dietz syndrome 11.5
11 stickler syndrome, type i 11.3
12 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.3
13 amyotrophy, hereditary neuralgic 11.3
14 steinfeld syndrome 11.3
15 digeorge syndrome 11.3
16 elsahy-waters syndrome 11.3
17 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.3
18 orofaciodigital syndrome iii 11.3
19 mental retardation, x-linked 99, syndromic, female-restricted 11.3
20 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.3
21 loeys-dietz syndrome 2 11.3
22 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.3
23 loeys-dietz syndrome 4 11.3
24 culler-jones syndrome 11.3
25 au-kline syndrome 11.3
26 hyperthermia induced defects 11.3
27 splenogonadal fusion limb defects micrognatia 11.3
28 omphalocele-cleft palate syndrome, lethal 11.2
29 otitis media 10.5
30 williams-beuren syndrome 10.2
31 megalocornea 10.2
32 megalocornea-mental retardation syndrome 10.2
33 rudiger syndrome 10.2
34 stickler syndrome 10.2
35 aortic aneurysm 10.2
36 learning disability 10.2
37 cleft lip 10.2
38 aneurysm 10.2
39 commissural lip pits 10.1
40 strabismus 10.1
41 torus palatinus and torus mandibularis 10.1
42 cryptorchidism, unilateral or bilateral 10.1
43 tooth agenesis 10.1
44 hypotrichosis 10.1
45 mechanical strabismus 10.1
46 cleft hard palate 9.5 UBB GRHL3
47 cleft soft palate 9.4 UBB GRHL3

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bifid uvula 58 31 obligate (100%) Obligate (100%) HP:0000193
2 nasal, dysarthic speech 58 31 frequent (33%) Frequent (79-30%) HP:0008376
3 submucous cleft soft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0011819
4 cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0410030

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
bifid uvula

Clinical features from OMIM:

192100

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:

40
Eye, Liver

Publications for Uvula, Bifid

Articles related to Uvula, Bifid:

(show all 40)
# Title Authors PMID Year
1
Prevalence of bifid uvula in primary school children. 61
30554716 2019
2
Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome. 61
28471735 2017
3
Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency. 61
26768186 2015
4
Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease. 61
24972800 2014
5
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review. 61
23165892 2013
6
Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2. 61
22581619 2012
7
[Inspecting the throat of a young colleague. Cleft uvula]. 61
19475844 2009
8
Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome. 61
19193224 2009
9
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 61
17431922 2007
10
Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations. 61
17174617 2007
11
Surgical repair of unidirectional palatopharyngeal epignathus: Case report and review of literature. 61
16681411 2006
12
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. 61
12116239 2002
13
Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome. 61
10706355 2000
14
Auriculo-condylar syndrome: further evidence for a new disorder. 61
10449647 1999
15
Two cases with interstitial deletions of chromosome 2 and sex reversal in one. 61
10440834 1999
16
Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. 61
9719381 1998
17
Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity. 61
1345512 1992
18
Prevalence of cleft uvula among school children in kindergarten through grade five. 61
1547244 1992
19
[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?]. 61
1677642 1991
20
Oral aspects of Rubinstein-Taybi syndrome. 61
2118777 1990
21
Lack of association of cleft uvula with otitis media in Apache Indian children. 61
3631018 1987
22
Bifid uvula and otitis media in Apache Indians. 61
3490335 1986
23
Submucous cleft palate. 61
3856623 1985
24
Cleft uvula. 61
3879421 1985
25
Otitis media and eustachian tube caliber. 61
6586052 1983
26
Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25). 61
7253002 1981
27
Cleft uvula: prevalence and genetics. 61
272244 1978
28
Prevalence of cleft uvula among 2,732 Danes. 61
267522 1977
29
The prevalence of cleft uvula in an Inuit population. 61
4432929 1974
30
Frequency of cleft uvula and submucous cleft palate in patients with Down's syndrome. 61
4276439 1974
31
Prevalence of cleft uvula in British Columbia. 61
5286721 1971
32
Cleft uvula: a microform of facial clefts and its genetic basis. 61
5173247 1971
33
Nasality and cleft uvula. 61
5283312 1971
34
Cleft uvula: incidence in Negroes. 61
5270518 1970
35
Minor craniofacial anomalies among a Negro population. I. Prevalence of cleft uvula, commissural lip pits, preauricular pits, torus palatinus, and torus mandibularis. 61
5264900 1970
36
Cleft uvula in Chippewa Indians: prevalence and genetics. 61
5445084 1970
37
Cleft palate, cleft lip, and cleft uvula in Navajo indians: incidence and orhinolaryngologic problems. 61
5266341 1970
38
Cleft uvula--a microform of cleft palate. 61
4161696 1966
39
ABNORMAL MORPHOLOGY OF THE SOFT PALATE. II. THE GENETICS OF CLEFT UVULA. 61
14232214 1965
40
ABNORMAL MORPHOLOGY OF THE SOFT PALATE. I. THE PREVALENCE OF CLEFT UVULA. 61
14192455 1964

Variations for Uvula, Bifid

ClinVar genetic disease variations for Uvula, Bifid:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
2 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733

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, DNA-templated GO:0045893 8.62 NSD1 GRHL3

Molecular functions related to Uvula, Bifid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.62 NSD1 GRHL3

Sources for Uvula, Bifid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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