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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 56 52
Velopharyngeal Insufficiency 56 52 6 71
Congenital Velopharyngeal Incompetence 52 58 71
Velopharyngeal Incompetence 56 74 52
Velopharyngeal Incompetence; Vpi 56
Vpi 56

Characteristics:

OMIM:

56
Inheritance:
multifactorial


HPO:

31
palatopharyngeal incompetence:
Inheritance multifactorial inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 167500
ICD10 via Orphanet 33 J39.2
UMLS via Orphanet 72 C1997202
Orphanet 58 ORPHA2291
MedGen 41 C0042454
UMLS 71 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, heart and tongue, and related phenotypes are abnormality of the voice and abnormality of the pharynx

Wikipedia : 74 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 84)
# 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 dysphagia 10.2
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
19 chromosomal triplication 10.2
20 treacher collins syndrome 1 10.2
21 otitis media 10.2
22 branchiootic syndrome 1 10.2
23 tympanosclerosis 10.2
24 dysostosis 10.2
25 middle ear disease 10.2
26 familial glucocorticoid deficiency 10.2
27 prader-willi syndrome 10.1
28 tetralogy of fallot 10.1
29 myopathy 10.1
30 clostridium difficile colitis 10.1
31 cholera 10.1
32 mouth disease 10.1
33 periodontitis 10.1
34 polymyositis 10.1
35 tremor 10.1
36 apnea, obstructive sleep 10.1
37 pierre robin syndrome 10.1
38 alkuraya-kucinskas syndrome 10.1
39 distal arthrogryposis 10.1
40 ptosis 10.1
41 klippel-feil syndrome 10.1
42 neonatal myasthenia gravis 10.1
43 cellulitis 10.1
44 brain injury 10.1
45 head injury 10.1
46 congenital amyoplasia 10.1
47 overgrowth syndrome 10.1
48 obsolete: hand-schuller-christian disease 10.1
49 chiari malformation type i 10.0
50 hand-foot-genital syndrome 10.0

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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
2 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
3 velopharyngeal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000220
4 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
5 cleft palate 31 HP:0000175
6 abnormal palate morphology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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
Epinephrine Approved, Vet_approved 51-43-4 5816
5
Lidocaine Approved, Vet_approved 137-58-6 3676
6
Racepinephrine Approved 329-65-7 838
7
Cocaine Approved, Illicit 50-36-2 5760 446220
8
tannic acid Approved 1401-55-4
9
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
10
Imidacloprid Vet_approved 105827-78-9 86418
11 Epinephryl borate
12 Pharmaceutical Solutions
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 A Study of Border Line Cases of Velopharyngeal Incompetence and Insufficiency Using Cephalometry and Nasofibroscopy Unknown status NCT03259061
4 Influence of Medical Clowning in Videofluoroscopic Examination of Pediatric Speech Disorder Unknown status NCT02701322
5 Vessel Sealing System Uvulopalatoplasty vs Uvulopalatal Flap: a Randomized, Control Study of Efficacy and Adverse Effects Unknown status NCT00806637
6 Primary Palatoplasty in Pediatric Patients - A Retrospective Review of Surgical Outcomes Completed NCT01380171
7 Exercise Of Semi-Occluded Vocal Tract In Velopharyngeal Dysfunction In Patients With Cleft Palate : Effects Of Short-Term Completed NCT03966482
8 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
9 Single Blinded Randomized Controlled Trial Comparing Muscular Pharyngeal Flap to Mucosal/Submucosal Pharyngeal Flap Surgical Technique for the Treatment of Velopharyngeal Dysfunction Recruiting NCT03187600
10 Assessment of Intellectual Abilities for Subjects With Velopharyngeal Incompetence and Their Impact on Speech Intelligibility Not yet recruiting NCT03898713
11 Partial Adenoidectomy in Cases of Velopharyngeal Dysfunction Not yet recruiting NCT03469973
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:

40
Tonsil, Heart, Tongue, Testes, Bone, Thyroid, Salivary Gland
Sources

Publications for Palatopharyngeal Incompetence

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Articles related to Palatopharyngeal Incompetence:

(show top 50) (show all 989)
# Title Authors PMID Year
1
Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed. 61 56
14986834 2003
2
Autosomal dominant isolated velopharyngeal insufficiency. 61 56
11903361 2002
3
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. 61 56
9557885 1998
4
Dominant inheritance of velopharyngeal incompetence. 56
7296935 1981
5
Pierre Robin Sequence: Incidence of Speech-Correcting Surgeries and Fistula Formation. 61
31530001 2020
6
[Changes of postoperative velopharyngeal function in children with cleft palate under 5 years old]. 61
32037766 2020
7
Autologous Fat Injection Pharyngoplasty in Adults with Velopharyngeal Insufficiency. 61
31609127 2020
8
Publishing trends in velopharyngeal insufficiency. 61
31760335 2020
9
Inability to Mask Ventilate During Myringotomy Tube Replacement: A Case Report. 61
31850923 2020
10
Deglutition in Patients With Hypernasality Associated With Unilateral Cleft Lip and Palate Evaluated With High-Resolution Manometry. 61
31672024 2020
11
Adenotonsillectomy for the Treatment of Obstructive Sleep Apnea in Children with Prader-Willi Syndrome: A Meta-analysis. 61
31818186 2020
12
Voice and swallowing dysfunction in X-linked dystonia parkinsonism. 61
30889292 2020
13
Predictors of Speech Outcome in Posterior Pharyngeal Fat Graft Surgery for Velopharyngeal Insufficiency Management. 61
31369510 2020
14
The Comparison of Pierre Robin Sequence and Non-Syndromic Cleft Palate. 61
31725501 2020
15
Relationship of Velopharyngeal Insufficiency With Face Mask Therapy in Patients With Cleft Lip and Palate. 61
31366211 2020
16
Speech, language, and feeding phenotypes of SATB2-associated syndrome. 61
31392730 2019
17
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. 61
31106163 2019
18
[Factors affecting the postoperative velopharyngeal function among aged patients with cleft palate]. 61
31875441 2019
19
Detection and assessment of hypernasality in repaired cleft palate speech using vocal tract and residual features. 61
31893680 2019
20
Comparison of Hogan pharyngeal flap and sphincter pharyngoplasty in postoperative velopharyngeal function. 61
31864856 2019
21
Pharyngeal Obturator Prosthetic Rehabilitation of Velopharyngeal Insufficiency. 61
31839102 2019
22
Quality of life outcomes following velopharyngeal insufficiency surgery. 61
31442731 2019
23
In-Office Injection Pharyngoplasty for Velopharyngeal Insufficiency After Oropharyngeal Cancer Treatment. 61
30730561 2019
24
Normative data on nasalance scores for Farsi speaking children: Influence of age, gender and phonetic context. 61
31536853 2019
25
Adenoid hypertrophy causing obstructive sleep apnea in children after pharyngeal flap surgery. 61
31520163 2019
26
Endoscopic Endonasal Odontoidectomy. 61
31750066 2019
27
Acoustic analysis of voice in children with cleft lip and palate following vocal rehabilitation. Preliminary report. 61
31394406 2019
28
Novel treatment for mild and moderate velopharyngeal insufficiency using implantable AlloDerm for posterior pharyngeal wall augmentation and review of surgical repair techniques. 61
31444004 2019
29
Brazilian-Portuguese Linguistic Validation of the Velopharyngeal Insufficiency Effects on Life Outcome Instrument. 61
31233001 2019
30
Validation of the Chinese Velopharyngeal Insufficiency Effects on Life Outcomes Instrument. 61
30671957 2019
31
Non-Interventional Factors Influencing Velopharyngeal Function For Speech In Initial Cleft Palate Repair: A Systematic Review Protocol. 61
31690349 2019
32
Passavant's ridge during speech production with and without pharyngeal bulb. 61
31561168 2019
33
Autologous Fat Grafting for the Treatment of Mild to Moderate Velopharyngeal Insufficiency. 61
31261316 2019
34
Surgical Treatment for Palatoglossal Arch Cicatrix and Velopharyngeal Insufficiency After Adenotonsillectomy. 61
30654649 2019
35
Measuring Patient-Reported Health-Related Quality of Life in Velopharyngeal Insufficiency: Reliability and Validity of the Brazilian Portuguese Version of the VELO Instrument. 61
31079479 2019
36
Evaluation of the Effect of Various Radiotherapy Modalities on Swallowing Function in Patients With Nasopharyngeal Cancer. 61
30966802 2019
37
Influence of Infant Cleft Dimensions on Velopharyngeal Function in 5-Year-Old Danish Children Born With Unilateral Cleft Lip and Palate. 61
31505955 2019
38
Longus Capitis Reconstruction of the Soft Palate. 61
31084255 2019
39
Unilateral soft palate palsy secondary to blunt neck trauma: a case report. 61
31239228 2019
40
Complications Following Orthognathic Surgery for Patients With Cleft Lip/Palate. 61
30998594 2019
41
Cleft Palate Outcomes and Prognostic Impact of Palatal Fistula on Subsequent Velopharyngeal Function-A Retrospective Cohort Study. 61
30755029 2019
42
Morphology of the Musculus Uvulae In Vivo Using MRI and 3D Modeling Among Adults With Normal Anatomy and Preliminary Comparisons to Cleft Palate Anatomy. 61
30786757 2019
43
Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report. 61
31045304 2019
44
Occult subtotal cleft of the secondary palate with VPI associated to 8q22.2 deletion. 61
31158572 2019
45
Age and Preoperative Velar Closure Ratio Are Significantly Associated With Surgical Outcome of Furlow Double-Opposing Z-Plasty in Palatal Re-Repair. 61
31654644 2019
46
Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate. 61
30696259 2019
47
Autologous fat transplantation to the velopharynx for treating mild velopharyngeal insufficiency: A 10-year experience. 61
31103609 2019
48
Surgical Outcomes for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome. 61
30935277 2019
49
Lateral pharyngeal flap with a double pedicle for repair of unilateral velopharyngeal insufficiency. 61
31471098 2019
50
Tailored Posterior Pharyngeal Fat Grafting Outcomes in Velopharyngeal Insufficiency Managed According to a Simplified Algorithm. 61
31295169 2019
Sources

Variations for Palatopharyngeal Incompetence

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ClinVar genetic disease variations for Palatopharyngeal Incompetence:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 29 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18894835-20311763)copy number loss Pathogenic 523273 22:18894835-20311763
2 46;XY;t(9;14)(p21;q12)dnTranslocation Uncertain significance 267914

Copy number variations for Palatopharyngeal Incompetence from CNVD:

7
# CNVD ID Chromosome 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.
Sources

Pathways for Palatopharyngeal Incompetence

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Sources

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 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
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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