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VPI
MCID: PLT007
MIFTS: 35

Palatopharyngeal Incompetence (VPI)

Categories: Fetal diseases, Oral diseases, Rare diseases
Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Palatopharyngeal Incompetence

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MalaCards integrated aliases for Palatopharyngeal Incompetence:

Name: Palatopharyngeal Incompetence 57 53
Velopharyngeal Insufficiency 57 53 6 72
Congenital Velopharyngeal Incompetence 53 59 72
Velopharyngeal Incompetence 57 75 53
Velopharyngeal Incompetence; Vpi 57
Vpi 57

Characteristics:

OMIM:

57
Inheritance:
multifactorial


HPO:

32
palatopharyngeal incompetence:
Inheritance multifactorial inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 167500
ICD10 via Orphanet 34 J39.2
UMLS via Orphanet 73 C1997202
Orphanet 59 ORPHA2291
MedGen 42 C0042454
UMLS 72 C0042454 C1997202
Sources

Summaries for Palatopharyngeal Incompetence

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MalaCards based summary : Palatopharyngeal Incompetence, also known as velopharyngeal insufficiency, is related to sweeney-cox syndrome and digeorge syndrome. The drugs Hemostatics and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include tonsil, tongue and testes, and related phenotypes are abnormality of the voice and abnormality of the pharynx

Wikipedia : 75 Velopharyngeal inadequacy is a malfunction of a velopharyngeal mechanism which is responsible for... more...

More information from OMIM: 167500
Sources

Related Diseases for Palatopharyngeal Incompetence

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Diseases related to Palatopharyngeal Incompetence via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 sweeney-cox syndrome 11.6
2 digeorge syndrome 10.6
3 cleft lip 10.5
4 cleft lip/palate 10.5
5 sleep apnea 10.5
6 velocardiofacial syndrome 10.4
7 speech disorder 10.4
8 cleft palate, isolated 10.4
9 hypotonia 10.4
10 cerebrovascular disease 10.3
11 hard palate cancer 10.3
12 neurofibromatosis, type iv, of riccardi 10.3
13 hemifacial microsomia 10.3
14 isolated pierre robin sequence 10.3
15 myasthenia gravis 10.2
16 myotonic dystrophy 10.2
17 myotonia atrophica 10.2
18 dysphagia 10.2
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
20 chromosomal triplication 10.2
21 treacher collins syndrome 1 10.2
22 otitis media 10.2
23 branchiootic syndrome 1 10.2
24 tympanosclerosis 10.2
25 dysostosis 10.2
26 middle ear disease 10.2
27 familial glucocorticoid deficiency 10.2
28 clostridium difficile colitis 10.1
29 cholera 10.1
30 mouth disease 10.1
31 periodontitis 10.1
32 polymyositis 10.1
33 tremor 10.1
34 prader-willi syndrome 10.1
35 tetralogy of fallot 10.1
36 myopathy 10.1
37 apnea, obstructive sleep 10.1
38 pierre robin syndrome 10.1
39 alkuraya-kucinskas syndrome 10.1
40 distal arthrogryposis 10.1
41 ptosis 10.1
42 klippel-feil syndrome 10.1
43 neonatal myasthenia gravis 10.1
44 histiocytosis 10.1
45 cellulitis 10.1
46 brain injury 10.1
47 head injury 10.1
48 congenital amyoplasia 10.1
49 overgrowth syndrome 10.1
50 eosinophilic granuloma 10.1

Graphical network of the top 20 diseases related to Palatopharyngeal Incompetence:



Diseases related to Palatopharyngeal Incompetence
Sources

Symptoms & Phenotypes for Palatopharyngeal Incompetence

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Human phenotypes related to Palatopharyngeal Incompetence:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
2 abnormality of the pharynx 59 32 hallmark (90%) Very frequent (99-80%) HP:0000600
3 velopharyngeal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000220
4 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
5 cleft palate 32 HP:0000175
6 abnormal palate morphology 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
Mouth:
congenital palatopharyngeal incompetence

Voice:
cleft palate speech

Clinical features from OMIM:

167500
Sources

Drugs & Therapeutics for Palatopharyngeal Incompetence

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Drugs for Palatopharyngeal Incompetence (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Phase 4
2 Coagulants Phase 4
3 Fibrin Tissue Adhesive Phase 4
4
Lidocaine Approved, Vet_approved 137-58-6 3676
5
Epinephrine Approved, Vet_approved 51-43-4 5816
6
Racepinephrine Approved 329-65-7 838
7
Cocaine Approved, Illicit 50-36-2 446220 5760
8
tannic acid Approved 1401-55-4
9
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
10
Imidacloprid Vet_approved 105827-78-9 86418
11 Pharmaceutical Solutions
12 Epinephryl borate
13 Anesthetics
14 Anesthetics, General

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4 Tisseel
2 Correlation of Nasal Volume and Cross-Sectional Area With Nasalance Scores as Measured by Acoustic Rhinometry and Nasometry Terminated NCT00147940 Phase 4
3 Influence of Medical Clowning in Videofluoroscopic Examination of Pediatric Speech Disorder Unknown status NCT02701322
4 Vessel Sealing System Uvulopalatoplasty vs Uvulopalatal Flap: a Randomized, Control Study of Efficacy and Adverse Effects Unknown status NCT00806637
5 Primary Palatoplasty in Pediatric Patients - A Retrospective Review of Surgical Outcomes Completed NCT01380171
6 Exercise Of Semi-Occluded Vocal Tract In Velopharyngeal Dysfunction In Patients With Cleft Palate : Effects Of Short-Term Completed NCT03966482
7 Device Assisted Exercises for Improving Soft Palate and Eustachian Tube Function in Children Between Ages 6-17 With or Without Cleft Palate and With Ventilation Tubes Recruiting NCT03868891
8 Single Blinded Randomized Controlled Trial Comparing Muscular Pharyngeal Flap to Mucosal/Submucosal Pharyngeal Flap Surgical Technique for the Treatment of Velopharyngeal Dysfunction Recruiting NCT03187600
9 Assessment of Intellectual Abilities for Subjects With Velopharyngeal Incompetence and Their Impact on Speech Intelligibility Not yet recruiting NCT03898713
10 Partial Adenoidectomy in Cases of Velopharyngeal Dysfunction Not yet recruiting NCT03469973
11 A Study of Border Line Cases of Velopharyngeal Incompetence and Insufficiency Using Cephalometry and Nasofibroscopy Not yet recruiting NCT03259061
12 A New Membrane Obturator Prothesis Concept for Soft Palate Defects Not yet recruiting NCT04009811
13 Effects of Phrenic Nerve Stimulation During Swallowing : Experimental Model of Aspiration Terminated NCT00213343
14 The Role of Antibiotic Prophylaxis in Cleft Palate and Velopharyngeal Insufficiency Repair Withdrawn NCT02688634 Amoxicillin

Search NIH Clinical Center for Palatopharyngeal Incompetence

Sources

Genetic Tests for Palatopharyngeal Incompetence

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Sources

Anatomical Context for Palatopharyngeal Incompetence

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MalaCards organs/tissues related to Palatopharyngeal Incompetence:

41
Tonsil, Tongue, Testes, Heart, Bone, Salivary Gland, Thyroid
Sources

Publications for Palatopharyngeal Incompetence

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Articles related to Palatopharyngeal Incompetence:

(show top 50) (show all 964)
# Title Authors PMID Year
1
Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed. 38 8
14986834 2003
2
Autosomal dominant isolated velopharyngeal insufficiency. 38 8
11903361 2002
3
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. 38 8
9557885 1998
4
Dominant inheritance of velopharyngeal incompetence. 8
7296935 1981
5
Treatment of velopharyngeal insufficiency in a patient with a submucous cleft palate using a speech aid: the more treatment options, the better the treatment results. 38
31106163 2019
6
Morphology of the Musculus Uvulae In Vivo Using MRI and 3D Modeling Among Adults With Normal Anatomy and Preliminary Comparisons to Cleft Palate Anatomy. 38
30786757 2019
7
Cleft Palate Outcomes and Prognostic Impact of Palatal Fistula on Subsequent Velopharyngeal Function-A Retrospective Cohort Study. 38
30755029 2019
8
Occult subtotal cleft of the secondary palate with VPI associated to 8q22.2 deletion. 38
31158572 2019
9
Unilateral soft palate palsy secondary to blunt neck trauma: a case report. 38
31239228 2019
10
Acoustic analysis of voice in children with cleft lip and palate following vocal rehabilitation. Preliminary report. 38
31394406 2019
11
Risk factors for velopharyngeal dysfunction following orthognathic surgery in the cleft population. 38
31274569 2019
12
Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate. 38
30696259 2019
13
Autologous fat transplantation to the velopharynx for treating mild velopharyngeal insufficiency: A 10-year experience. 38
31103609 2019
14
Surgical Outcomes for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome. 38
30935277 2019
15
Tailored Posterior Pharyngeal Fat Grafting Outcomes in Velopharyngeal Insufficiency Managed According to a Simplified Algorithm. 38
31295169 2019
16
Speech, language, and feeding phenotypes of SATB2-associated syndrome. 38
31392730 2019
17
Partial Adenoidectomy in Patients With Palatal Abnormalities. 38
31299813 2019
18
Relationship of Velopharyngeal Insufficiency With Face Mask Therapy in Patients With Cleft Lip and Palate. 38
31366211 2019
19
Velopharyngeal closure analysis using four-dimensional computed tomography: a pilot study of healthy volunteers and adult patients with cleft palate. 38
31286915 2019
20
Predictors of Speech Outcome in Posterior Pharyngeal Fat Graft Surgery for Velopharyngeal Insufficiency Management. 38
31369510 2019
21
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family. 38
30917284 2019
22
Management of velopharyngeal insufficiency by modified Furlow palatoplasty with pharyngeal flap: a retrospective outcome review. 38
30755357 2019
23
Brazilian-Portuguese Linguistic Validation of the Velopharyngeal Insufficiency Effects on Life Outcome Instrument. 38
31233001 2019
24
Retropharyngeal lipostructure in the treatment of velopharyngeal insufficiency: A prospective study and update. 38
30902555 2019
25
Normal Speech Should be the Expected Outcome in the Adopted Cleft Child. 38
30570565 2019
26
Autologous Fat Grafting for the Treatment of Mild to Moderate Velopharyngeal Insufficiency. 38
31261316 2019
27
The Pushback Pharyngeal Flap: An 18-Year Experience. 38
31136490 2019
28
Autologous Fat Grafting in Cleft Lip and Palate. 38
31048606 2019
29
Measuring Patient-Reported Health-Related Quality of Life in Velopharyngeal Insufficiency: Reliability and Validity of the Brazilian Portuguese Version of the VELO Instrument. 38
31079479 2019
30
Longus Capitis Reconstruction of the Soft Palate. 38
31084255 2019
31
Comparison of three different surgical techniques for designing pharyngeal flaps according to findings of videonasopharyngoscopy and multiplanar videofluoroscopy. 38
30776570 2019
32
Apert Syndrome 38
31145570 2019
33
[Effectiveness of Furlow palatoplasty in velopharyngeal insufficiency after cleft palate surgery]. 38
31090354 2019
34
The relationship between health-related quality of life and speech in patients with cleft palate. 38
30776568 2019
35
Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report. 38
31045304 2019
36
Pharyngeal flow simulations during sibilant sound in a patient-specific model with velopharyngeal insufficiency. 38
31153316 2019
37
Palatal Sphincter Pharyngoplasty With Cephalic Mucosa Preservation in Selected Cases of Velopharyngeal Insufficiency. 38
30678471 2019
38
Pharyngeal flap using carotid artery mobilization in 22q11.2 deletion syndrome with velopharyngeal insufficiency. 38
30784809 2019
39
The incidence of velopharyngeal insufficiency and oronasal fistula after primary palatal surgery with Sommerlad intravelar veloplasty: A retrospective study in Isfahan Cleft Care Team. 38
30739010 2019
40
Health-related quality of life in patients with cleft palate: Reproducibility, responsiveness and construct validity of the Dutch version of the VELO questionnaire. 38
30708181 2019
41
Multicenter Interrater Reliability in the Endoscopic Assessment of Velopharyngeal Function Using a Video Instruction Tool. 38
30642231 2019
42
Complications Following Orthognathic Surgery for Patients With Cleft Lip/Palate. 38
30998594 2019
43
Evaluation of the Effect of Various Radiotherapy Modalities on Swallowing Function in Patients With Nasopharyngeal Cancer. 38
30966802 2019
44
Prophylactic Use of Buccal Fat Flaps to Improve Oral Mucosal Healing following Furlow Palatoplasty. 38
30921142 2019
45
Voice and swallowing dysfunction in X-linked dystonia parkinsonism. 38
30889292 2019
46
Pharyngeal Flap Versus Sphincter Pharyngoplasty for Velopharyngeal Insufficiency: A Review of the 2014 and 2015 American College of Surgeons National Surgical Quality Improvement Project-Pediatrics Data. 38
30676445 2019
47
Tissue-Sparing Uvulopalatopharyngoplasty for OSA: Conservative, Compassionate and Possibly just as Effective. 38
30906703 2019
48
The prevalence of Passavant's ridge in patients with velopharyngeal insufficiency in a Taiwan Chinese population. 38
30988875 2019
49
In-Office Injection Pharyngoplasty for Velopharyngeal Insufficiency After Oropharyngeal Cancer Treatment. 38
30730561 2019
50
Protocols for Reporting Speech Outcomes following Palatoplasty or Velopharyngeal Surgery: A Literature Review. 38
30881846 2019
Sources

Variations for Palatopharyngeal Incompetence

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ClinVar genetic disease variations for Palatopharyngeal Incompetence:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 29 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18894835-20311763) copy number loss Pathogenic 22:18894835-20311763 :0-0
2 46;XY;t(9;14)(p21;q12)dn Translocation Uncertain significance

Copy number variations for Palatopharyngeal Incompetence from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 160277 22 11800000 24300000 Microdeletion velopharyngeal insufficiency
Sources

Expression for Palatopharyngeal Incompetence

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Search GEO for disease gene expression data for Palatopharyngeal Incompetence.
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Pathways for Palatopharyngeal Incompetence

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GO Terms for Palatopharyngeal Incompetence

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Sources

Sources for Palatopharyngeal Incompetence

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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