MCID: ANK008
MIFTS: 42

Ankyloglossia

Categories: Gastrointestinal diseases, Oral diseases

Aliases & Classifications for Ankyloglossia

MalaCards integrated aliases for Ankyloglossia:

Name: Ankyloglossia 58 12 56 45 15
Tongue Tie 30 6
'tongue-Tie' 58
Tongue-Tie 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ankyloglossia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060604
OMIM 58 106280
ICD10 34 Q38.1
MedGen 43 C0152415
SNOMED-CT via HPO 70 263681008 67787004

Summaries for Ankyloglossia

Disease Ontology : 12 A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.

MalaCards based summary : Ankyloglossia, also known as tongue tie, is related to cleft palate, isolated and cleft palate with or without ankyloglossia, x-linked. An important gene associated with Ankyloglossia is TBX22 (T-Box 22), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and Regulation of FZD by ubiquitination. The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include tongue, breast and testes, and related phenotypes are ankyloglossia and craniofacial

Wikipedia : 77 Ankyloglossia, also known as tongue-tie, is a congenital oral anomaly that may decrease mobility of the... more...

Description from OMIM: 106280

Related Diseases for Ankyloglossia

Graphical network of the top 20 diseases related to Ankyloglossia:



Diseases related to Ankyloglossia

Symptoms & Phenotypes for Ankyloglossia

Human phenotypes related to Ankyloglossia:

33
# Description HPO Frequency HPO Source Accession
1 ankyloglossia 33 HP:0010296

Symptoms via clinical synopsis from OMIM:

58
Mouth:
ankyloglossia

Clinical features from OMIM:

106280

MGI Mouse Phenotypes related to Ankyloglossia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.85 FOXC2 HRAS IRF6 LGR5 RSPO2 TBX22
2 digestive/alimentary MP:0005381 9.8 FOXC2 HRAS IRF6 LGR5 RSPO2 TBX22
3 growth/size/body region MP:0005378 9.73 FOXC2 HRAS IRF6 LGR5 RSPO2 TBX22
4 renal/urinary system MP:0005367 9.55 CDH4 FOXC2 HRAS LGR5 RSPO2
5 respiratory system MP:0005388 9.35 FOXC2 HRAS LGR5 RSPO2 TBX22
6 skeleton MP:0005390 9.1 CDH4 FOXC2 HRAS IRF6 RSPO2 TBX22

Drugs & Therapeutics for Ankyloglossia

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3 Anesthetics Phase 1, Phase 2,Not Applicable
4 Peripheral Nervous System Agents Phase 1, Phase 2,Not Applicable
5 Central Nervous System Depressants Phase 1, Phase 2,Not Applicable
6 Anesthetics, Local Phase 1, Phase 2,Not Applicable
7
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
8
Rocuronium Approved Not Applicable 119302-91-9, 143558-00-3 441290
9
Alfentanil Approved, Illicit Not Applicable 71195-58-9 51263
10
Propofol Approved, Investigational, Vet_approved Not Applicable 2078-54-8 4943
11
Sevoflurane Approved, Vet_approved Not Applicable 28523-86-6 5206
12 Sodium Channel Blockers Not Applicable
13 Anti-Arrhythmia Agents Not Applicable
14 Diuretics, Potassium Sparing Not Applicable
15 Hemostatics Not Applicable
16 Trichostatin A Not Applicable
17 Analgesics Not Applicable
18 Anesthetics, Intravenous Not Applicable
19 Neuromuscular Blocking Agents Not Applicable
20 Anesthetics, General Not Applicable
21 Neuromuscular Agents Not Applicable
22 Analgesics, Opioid Not Applicable
23 Narcotics Not Applicable
24 Neuromuscular Nondepolarizing Agents Not Applicable
25 Hypnotics and Sedatives Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Topical Benzocaine for Analgesia in Lingual Frenotomy of the Newborn Terminated NCT01274247 Phase 1, Phase 2 Topical Benzocaine
2 Prospective Evaluation of Lingual Frenotomy in Newborns With Simultaneous Lip Tie for the Relief of Breastfeeding Pain. Unknown status NCT02141243 Not Applicable
3 Efficacy of Neonatal Release of Ankyloglossia Completed NCT00967915 Not Applicable
4 Breastfeeding Improvement Following Tongue-tie and Lip-tie Release Completed NCT02642133 Not Applicable
5 Anterior Lingual Frenectomy is Inadequate in Improving Breastfeeding Outcomes: a Prospective Cohort Study Completed NCT02936518 Not Applicable
6 Comparison Among Propofol, Alfentanil and Rocuronium as Adjunct to Sevoflurane Anesthesia for Endotracheal Intubation in Children With Frenectomy Completed NCT01550354 Not Applicable administration of propofol;administration of alfentanil;administration of rocuronium
7 The Impact of Lingual Frenotomy on Bottle Feeding Mechanics Not yet recruiting NCT03793413 Not Applicable

Search NIH Clinical Center for Ankyloglossia

Cochrane evidence based reviews: ankyloglossia

Genetic Tests for Ankyloglossia

Genetic tests related to Ankyloglossia:

# Genetic test Affiliating Genes
1 Tongue Tie 30

Anatomical Context for Ankyloglossia

MalaCards organs/tissues related to Ankyloglossia:

42
Tongue, Breast, Testes, Bone, Colon, Heart

Publications for Ankyloglossia

Articles related to Ankyloglossia:

(show top 50) (show all 288)
# Title Authors Year
1
What is a tongue tie? Defining the anatomy of the in-situ lingual frenulum. ( 30701608 )
2019
2
Frenotomy for tongue-tie (frenulum linguae breve) showed improved symptoms in the short- and long-term follow-up. ( 30968969 )
2019
3
Sevoflurane Inhalation Anesthesia for Uncooperative Pediatric Outpatients in the Treatment of Ankyloglossia: A Retrospective Study of 137 Cases. ( 31109230 )
2019
4
Diagnosis, classification and management of ankyloglossia including its influence on breastfeeding. ( 30954985 )
2019
5
Association between ankyloglossia and breastfeeding. ( 30810632 )
2019
6
Implications of Ankyloglossia on Breastfeeding. ( 30807325 )
2019
7
Congenital lateral cleft palate with unilateral craniofacial microsomia and lateral ankyloglossia. ( 30700453 )
2019
8
Caregiver perception of speech quality in patients with ankyloglossia: Comparison between surgery and non-treatment. ( 30677630 )
2019
9
Frenotomy in Infants with Tongue-Tie and Breastfeeding Problems. ( 30543756 )
2018
10
The Tongue Tie: Untied. ( 30426963 )
2018
11
A multifaceted programme to reduce the rate of tongue-tie release surgery in newborn infants: Observational study. ( 30173975 )
2018
12
Frenotomy for tongue-tie in newborn infants. ( 30001811 )
2018
13
Frenotomy for tongue-tie in Australian children, 2006-2016: an increasing problem. ( 29385976 )
2018
14
Tongue-tie and frenotomy: what evidence do we have and what do we need? ( 29385975 )
2018
15
Long-term efficacy of a tongue tie service in improving breast feeding rates: A prospective study. ( 29248165 )
2018
16
Response to Letter to the Editor regarding the article: Is the Neonatal Tongue Screening Test a valid and reliable tool for detecting ankyloglossia in newborns? ( 30580470 )
2018
17
Ankyloglossia as an oral functional problem and its surgical management. ( 30152627 )
2018
18
Ankyloglossia: Cohort and Results of Frenulotomies within Primary Health Setting. ( 29870096 )
2018
19
Quality, Readability, and Trends for Websites on Ankyloglossia. ( 29774762 )
2018
20
Is the Neonatal Tongue Screening Test a valid and reliable tool for detecting ankyloglossia in newborns? ( 29767443 )
2018
21
Familial autosomal dominant severe ankyloglossia with tooth abnormalities. ( 29704302 )
2018
22
Defining Tip-Frenulum Length for Ankyloglossia and Its Impact on Breastfeeding: A Prospective Cohort Study. ( 29620937 )
2018
23
What does the world think of ankyloglossia? ( 29385272 )
2018
24
A Dramatic Increase in Tongue Tie-Related Articles: A 67 Years Systematic Review. ( 28787179 )
2017
25
Making Sense of Studies That Claim Benefits of Frenotomy in the Absence of Classic Tongue-Tie. ( 28719783 )
2017
26
Frenotomy for tongue-tie in newborn infants. ( 28284020 )
2017
27
Breastfeeding improvement following tongue-tie and lip-tie release: A prospective cohort study. ( 27641715 )
2017
28
Changes in the incidence and surgical treatment of ankyloglossia in Canada. ( 29479253 )
2017
29
The prevalence of ankyloglossia in 302 newborns with breastfeeding problems and sucking difficulties in Barcelona: a descriptive study. ( 29380619 )
2017
30
A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome. ( 29210485 )
2017
31
Effect of frenotomy on breastfeeding variables in infants with ankyloglossia (tongue-tie): a prospective before and after cohort study. ( 29132414 )
2017
32
Ankyloglossia: Surgical management and functional rehabilitation of tongue. ( 29072224 )
2017
33
Ankyloglossia as a risk factor for maxillary hypoplasia and soft palate elongation: A functional - morphological study. ( 28994495 )
2017
34
ANKYLOGLOSSIA AND ITS INFLUENCE ON GROWTH AND DEVELOPMENT OF THE STOMATOGNATHIC SYSTEM. ( 28977337 )
2017
35
Ease in Bag and Mask Ventilation: Is Ankyloglossia in a Child with Micrognathia a Blessing in Disguise? ( 28928596 )
2017
36
Diagnosis and Treatment of Ankyloglossia in Newborns and Infants: A Review. ( 28715533 )
2017
37
Familial Ankyloglossia -A Rare Report of three Cases in a Family. ( 28384993 )
2017
38
Ankyloglossia in Infancy: An Indian Experience. ( 28285282 )
2017
39
Ankyloglossia and Lingual Frenotomy: National Trends in Inpatient Diagnosis and Management in the United States, 1997-2012. ( 28168891 )
2017
40
Toward a functional definition of ankyloglossia: validating current grading scales for lingual frenulum length and tongue mobility in 1052 subjects. ( 28097623 )
2017
41
Breastfeeding Infants with Ankyloglossia: Insight into Mothers' Experiences. ( 28061033 )
2017
42
Tongue-tie in the newborn: Follow-up in the first 6 months. ( 29211420 )
2016
43
Tongue-tie practitioner group chair speaks out after criticism. ( 27821011 )
2016
44
Tongue-tie assessment: clinical aspects and a new diode laser technique for its management. ( 27759411 )
2016
45
Evaluation of Hyoid Position in Children of 7-11 Years Old with Ankyloglossia in Lateral Cephalometic Radiographs. ( 28694853 )
2016
46
Labial ankyloglossia: A rare case report. ( 27994428 )
2016
47
Management of Ankyloglossia and Breastfeeding Difficulties in the Newborn: Breastfeeding Sessions, Myofunctional Therapy, and Frenotomy. ( 27688921 )
2016
48
Management of posterior ankyloglossia and upper lip ties in a tertiary otolaryngology outpatient clinic. ( 27497378 )
2016
49
An Alternative Method to Treat Ankyloglossia. ( 27471811 )
2016
50
Office-based frenotomy for ankyloglossia and problematic breastfeeding. ( 27412212 )
2016

Variations for Ankyloglossia

ClinVar genetic disease variations for Ankyloglossia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OBSL1 NM_015311.3(OBSL1): c.2980C> T (p.Arg994Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219559471: 219559471
2 OBSL1 NM_015311.3(OBSL1): c.2980C> T (p.Arg994Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220424193: 220424193
3 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219558345: 219558345
4 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220423067: 220423067
5 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh37 Chromosome 19, 38995701: 38995701
6 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh38 Chromosome 19, 38505061: 38505061

Expression for Ankyloglossia

Search GEO for disease gene expression data for Ankyloglossia.

Pathways for Ankyloglossia

Pathways related to Ankyloglossia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.6 HRAS LGR5 RSPO2
2
Show member pathways
10.11 LGR5 RSPO2

GO Terms for Ankyloglossia

Biological processes related to Ankyloglossia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of canonical Wnt signaling pathway GO:0090263 8.62 LGR5 RSPO2

Sources for Ankyloglossia

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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