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

Publications for Ankyloglossia

Articles related to Ankyloglossia:

(show top 50) (show all 286)
# Title Authors Year
1
Caregiver perception of speech quality in patients with ankyloglossia: Comparison between surgery and non-treatment. ( 30677630 )
2019
2
Congenital lateral cleft palate with unilateral craniofacial microsomia and lateral ankyloglossia. ( 30700453 )
2019
3
Implications of Ankyloglossia on Breastfeeding. ( 30807325 )
2019
4
Association between ankyloglossia and breastfeeding. ( 30810632 )
2019
5
What is a Tongue Tie? Defining the anatomy of the in-situ lingual frenulum. ( 30701608 )
2019
6
Ankyloglossia: Cohort and Results of Frenulotomies within Primary Health Setting. ( 29870096 )
2018
7
Quality, Readability, and Trends for Websites on Ankyloglossia. ( 29774762 )
2018
8
Is the Neonatal Tongue Screening Test a valid and reliable tool for detecting ankyloglossia in newborns? ( 29767443 )
2018
9
Ankyloglossia ( 29493920 )
2018
10
What does the world think of ankyloglossia? ( 29385272 )
2018
11
Defining Tip-Frenulum Length for Ankyloglossia and Its Impact on Breastfeeding: A Prospective Cohort Study. ( 29620937 )
2018
12
Familial autosomal dominant severe ankyloglossia with tooth abnormalities. ( 29704302 )
2018
13
Ankyloglossia as an oral functional problem and its surgical management. ( 30152627 )
2018
14
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
15
Long-term efficacy of a tongue tie service in improving breast feeding rates: A prospective study. ( 29248165 )
2018
16
Tongue-tie and frenotomy: what evidence do we have and what do we need? ( 29385975 )
2018
17
Frenotomy for tongue-tie in Australian children, 2006-2016: an increasing problem. ( 29385976 )
2018
18
Frenotomy for tongue-tie in newborn infants. ( 30001811 )
2018
19
A multifaceted programme to reduce the rate of tongue-tie release surgery in newborn infants: Observational study. ( 30173975 )
2018
20
The Tongue Tie: Untied. ( 30426963 )
2018
21
Frenotomy in Infants with Tongue-Tie and Breastfeeding Problems. ( 30543756 )
2018
22
The prevalence of ankyloglossia in 302 newborns with breastfeeding problems and sucking difficulties in Barcelona: a descriptive study. ( 29380619 )
2017
23
A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome. ( 29210485 )
2017
24
Familial Ankyloglossia -A Rare Report of three Cases in a Family. ( 28384993 )
2017
25
Ankyloglossia in Infancy: An Indian Experience. ( 28285282 )
2017
26
Ankyloglossia as a risk factor for maxillary hypoplasia and soft palate elongation: A functional - morphological study. ( 28994495 )
2017
27
Ankyloglossia and Lingual Frenotomy: National Trends in Inpatient Diagnosis and Management in the United States, 1997-2012. ( 28168891 )
2017
28
ANKYLOGLOSSIA AND ITS INFLUENCE ON GROWTH AND DEVELOPMENT OF THE STOMATOGNATHIC SYSTEM. ( 28977337 )
2017
29
Toward a functional definition of ankyloglossia: validating current grading scales for lingual frenulum length and tongue mobility in 1052 subjects. ( 28097623 )
2017
30
Changes in the incidence and surgical treatment of ankyloglossia in Canada. ( 29479253 )
2017
31
Ease in Bag and Mask Ventilation: Is Ankyloglossia in a Child with Micrognathia a Blessing in Disguise? ( 28928596 )
2017
32
Breastfeeding Infants with Ankyloglossia: Insight into Mothers' Experiences. ( 28061033 )
2017
33
Ankyloglossia: Surgical management and functional rehabilitation of tongue. ( 29072224 )
2017
34
Effect of frenotomy on breastfeeding variables in infants with ankyloglossia (tongue-tie): a prospective before and after cohort study. ( 29132414 )
2017
35
Diagnosis and Treatment of Ankyloglossia in Newborns and Infants: A Review. ( 28715533 )
2017
36
Breastfeeding improvement following tongue-tie and lip-tie release: A prospective cohort study. ( 27641715 )
2017
37
Frenotomy for tongue-tie in newborn infants. ( 28284020 )
2017
38
Making Sense of Studies That Claim Benefits of Frenotomy in the Absence of Classic Tongue-Tie. ( 28719783 )
2017
39
A Dramatic Increase in Tongue Tie-Related Articles: A 67 Years Systematic Review. ( 28787179 )
2017
40
Management of posterior ankyloglossia and upper lip ties in a tertiary otolaryngology outpatient clinic. ( 27497378 )
2016
41
To cut or not to cut? Approach to ankyloglossia. ( 26975914 )
2016
42
Office-based frenotomy for ankyloglossia and problematic breastfeeding. ( 27412212 )
2016
43
An Alternative Method to Treat Ankyloglossia. ( 27471811 )
2016
44
Temporal trends in ankyloglossia and frenotomy in British Columbia, Canada, 2004-2013: a population-based study. ( 27280112 )
2016
45
Management of Ankyloglossia and Breastfeeding Difficulties in the Newborn: Breastfeeding Sessions, Myofunctional Therapy, and Frenotomy. ( 27688921 )
2016
46
Should family physicians perform frenotomy for neonatal ankyloglossia? ( 26929731 )
2016
47
Multidisciplinary management of ankyloglossia in childhood. Treatment of 101 cases. A protocol. ( 26595832 )
2016
48
Newborn Infant With Epidermolysis Bullosa and Ankyloglossia. ( 26833212 )
2016
49
Evaluation of Hyoid Position in Children of 7-11 Years Old with Ankyloglossia in Lateral Cephalometic Radiographs. ( 28694853 )
2016
50
Ankyloglossia and the Breastfeeding Infant: Assessment and Intervention. ( 27003478 )
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 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh37 Chromosome 19, 38995701: 38995701
4 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh38 Chromosome 19, 38505061: 38505061
5 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219558345: 219558345
6 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220423067: 220423067

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
Content
Loading form....