ANKG
MCID: ANK020
MIFTS: 40

Ankyloglossia with or Without Tooth Anomalies (ANKG)

Categories: Gastrointestinal diseases, Oral diseases

Aliases & Classifications for Ankyloglossia with or Without Tooth Anomalies

MalaCards integrated aliases for Ankyloglossia with or Without Tooth Anomalies:

Name: Ankyloglossia with or Without Tooth Anomalies 57
Ankyloglossia 57 12 55 44 15 33
Tongue Tie 29 6
'tongue-Tie' 57
Tongue-Tie 12
Ankg 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
anorectal anomalies have been reported in 2 affected individuals from 1 family


HPO:

32
ankyloglossia with or without tooth anomalies:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060604
OMIM 57 106280
ICD10 33 Q38.1
MedGen 42 C0152415

Summaries for Ankyloglossia with or Without Tooth Anomalies

OMIM : 57 Ankyloglossia, commonly known as 'tongue-tie,' is a congenital anomaly that occurs predominantly in males and is characterized by an abnormally short lingual frenulum. The phenotype varies from absence of clinical significance to rare complete ankyloglossia where the ventral part of the tongue is fused to the floor of the mouth (Klockars, 2007). Some patients also exhibit absence of lower incisors (Acevedo et al., 2010). (106280)

MalaCards based summary : Ankyloglossia with or Without Tooth Anomalies, also known as ankyloglossia, is related to cleft palate, isolated and cleft palate with or without ankyloglossia, x-linked. An important gene associated with Ankyloglossia with or Without Tooth Anomalies is TBX22 (T-Box Transcription Factor 22), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Adhesion. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include tongue, breast and testes, and related phenotype is 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.

Wikipedia : 75 Ankyloglossia, also known as tongue-tie, is a congenital oral anomaly that may decrease mobility of the... more...

Related Diseases for Ankyloglossia with or Without Tooth Anomalies

Diseases related to Ankyloglossia with or Without Tooth Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 31.0 TBX22 IRF6
2 cleft palate with or without ankyloglossia, x-linked 12.9
3 van der woude syndrome 1 11.7
4 tetraamelia syndrome 2 11.4
5 schimmelpenning-feuerstein-mims syndrome 11.2
6 cleft palate x-linked 10.6
7 macroglossia 10.3
8 pierre robin syndrome 10.2
9 hard palate cancer 10.2
10 speech disorder 10.2
11 cleft lip 10.2
12 cleft tongue 10.2
13 major affective disorder 8 10.2
14 major affective disorder 9 10.2
15 q fever 10.2
16 inflammatory spondylopathy 10.2
17 bipolar disorder 10.2
18 spondylitis 10.2
19 tooth size 10.1
20 polydactyly 10.1
21 tooth agenesis 10.1
22 teratoma 10.1
23 articulation disorder 10.1
24 gastroesophageal reflux 10.1
25 dysphagia 10.1
26 coloboma of macula 10.0
27 distichiasis 10.0
28 beckwith-wiedemann syndrome 10.0
29 epidermoid cysts 10.0
30 floating-harbor syndrome 10.0
31 hair whorl 10.0
32 huntington disease 10.0
33 lymphedema-distichiasis syndrome 10.0
34 hemifacial microsomia 10.0
35 ulnar-mammary syndrome 10.0
36 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
37 cryptorchidism, unilateral or bilateral 10.0
38 gapo syndrome 10.0
39 smith-lemli-opitz syndrome 10.0
40 sudden infant death syndrome 10.0
41 opitz gbbb syndrome, type i 10.0
42 abruzzo-erickson syndrome 10.0
43 muscular dystrophy, duchenne type 10.0
44 branchiootic syndrome 1 10.0
45 choanal atresia, posterior 10.0
46 pulmonary hypertension 10.0
47 ptosis 10.0
48 mastitis 10.0
49 respiratory failure 10.0
50 gingival recession 10.0

Graphical network of the top 20 diseases related to Ankyloglossia with or Without Tooth Anomalies:



Diseases related to Ankyloglossia with or Without Tooth Anomalies

Symptoms & Phenotypes for Ankyloglossia with or Without Tooth Anomalies

Human phenotypes related to Ankyloglossia with or Without Tooth Anomalies:

32
# Description HPO Frequency HPO Source Accession
1 ankyloglossia 32 HP:0010296

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
hypertrophic lingual frenulum
shortened lingual frenulum
hypertrophic lower labial frenulum (in some patients)
labial commissure pits (rare)

Head And Neck Teeth:
missing lower incisors (in some patients)
supernumerary tooth (rare)

Clinical features from OMIM:

106280

Drugs & Therapeutics for Ankyloglossia with or Without Tooth Anomalies

Drugs for Ankyloglossia with or Without Tooth Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
3 Anesthetics, Local Phase 1, Phase 2
4 Central Nervous System Depressants Phase 1, Phase 2
5 Anesthetics Phase 1, Phase 2
6 Peripheral Nervous System Agents Phase 1, Phase 2
7
Lidocaine Approved, Vet_approved 137-58-6 3676
8
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
9
Sevoflurane Approved, Vet_approved 28523-86-6 5206
10
Alfentanil Approved, Illicit 71195-58-9 51263
11
Rocuronium Approved 119302-91-9, 143558-00-3 441290
12 Trichostatin A
13 Hemostatics
14 Sodium Channel Blockers
15 Diuretics, Potassium Sparing
16 Anti-Arrhythmia Agents
17 Analgesics
18 Narcotics
19 Neuromuscular Agents
20 Neuromuscular Nondepolarizing Agents
21 Neuromuscular Blocking Agents
22 Hypnotics and Sedatives
23 Analgesics, Opioid
24 Anesthetics, General
25 Anesthetics, Intravenous

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Time of Cry After Lingual Frenotomy in Infants With Lingual Frenulum and Breastfeeding Difficulties, With or Without Use of Topical Benzocaine Analgesia Terminated NCT01274247 Phase 1, Phase 2 Topical Benzocaine
2 Breastfeeding Improvement Following Tongue-tie and Lip-tie Release: A Prospective Cohort Study Completed NCT02642133
3 Efficacy of Neonatal Release of Ankyloglossia Completed NCT00967915
4 Anterior Lingual Frenectomy is Inadequate in Improving Breastfeeding Outcomes: a Prospective Cohort Study Completed NCT02936518
5 Randomized, Controlled Trial Evaluating Lingual Frenotomy in Newborns With Simultaneous Lip Tie for the Relief of Breastfeeding Pain. Completed NCT02141243
6 Comparison Among Propofol, Alfentanil and Rocuronium as Adjunct to Sevoflurane Anesthesia for Endotracheal Intubation in Children With Frenectomy Completed NCT01550354 administration of propofol;administration of alfentanil;administration of rocuronium
7 The Scope of Tongue-tie in Norway: Its Prevalence and Consequences for Child Health Not yet recruiting NCT04056936
8 The Impact of Lingual Frenotomy on Bottle Feeding Mechanics: a Randomized, Controlled Trial Not yet recruiting NCT03793413

Search NIH Clinical Center for Ankyloglossia with or Without Tooth Anomalies

Cochrane evidence based reviews: ankyloglossia

Genetic Tests for Ankyloglossia with or Without Tooth Anomalies

Genetic tests related to Ankyloglossia with or Without Tooth Anomalies:

# Genetic test Affiliating Genes
1 Tongue Tie 29

Anatomical Context for Ankyloglossia with or Without Tooth Anomalies

MalaCards organs/tissues related to Ankyloglossia with or Without Tooth Anomalies:

41
Tongue, Breast, Testes, Bone, Heart, Skin

Publications for Ankyloglossia with or Without Tooth Anomalies

Articles related to Ankyloglossia with or Without Tooth Anomalies:

(show top 50) (show all 398)
# Title Authors PMID Year
1
Familial autosomal dominant severe ankyloglossia with tooth abnormalities. 38 8
29704302 2018
2
Familial Ankyloglossia -A Rare Report of three Cases in a Family. 38 8
28384993 2017
3
Autosomal-dominant ankyloglossia and tooth number anomalies. 38 8
20042737 2010
4
Inheritance of ankyloglossia (tongue-tie). 38 8
18983637 2009
5
Familial ankyloglossia (tongue-tie). 38 8
17588677 2007
6
[Dominantly hereditary ankyloglossia]. 38 8
13013390 1952
7
Tbx22 expressions during palatal development in fetuses with glucocorticoid-/alcohol-induced C57BL/6N cleft palates. 9 38
19816249 2009
8
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. 9 38
17868388 2007
9
Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. 9 38
12412015 2002
10
What is a tongue tie? Defining the anatomy of the in-situ lingual frenulum. 38
30701608 2019
11
Defining the anatomy of the neonatal lingual frenulum. 38
31116462 2019
12
The value of frenotomy for ankyloglossia from a parental perspective. 38
31415501 2019
13
Ankyloglossia and Other Oral Ties. 38
31353141 2019
14
Ankyloglossia: Last three-years of outpatient care at a tertiary referral center. 38
31352228 2019
15
Association of Feeding Evaluation With Frenotomy Rates in Infants With Breastfeeding Difficulties. 38
31294774 2019
16
Posterior Tongue Tie, Base of Tongue Movement, and Pharyngeal Dysphagia: What is the Connection? 38
31367903 2019
17
Treatment of ankyloglossia with dental laser in paediatric patients: Scoping review and a case report. 38
31246095 2019
18
Etiology and clinical recommendations to manage the complications following lingual frenectomy: A critical review. 38
31255827 2019
19
Oral Anomalies In Newborns: An Observational Cross-Sectional Study. 38
31395111 2019
20
Sevoflurane Inhalation Anesthesia for Uncooperative Pediatric Outpatients in the Treatment of Ankyloglossia: A Retrospective Study of 137 Cases. 38
31109230 2019
21
Caregiver perception of speech quality in patients with ankyloglossia: Comparison between surgery and non-treatment. 38
30677630 2019
22
Tessier 30 Median Mandibular Hard and Soft Tissue Cleft, One-Stage Reconstruction Using a Template-Guided Resorbable "U"-Shaped Plate. 38
30971098 2019
23
[Treatment for tongue-tie]. 38
31036153 2019
24
Lingual frenotomy in neonates: past, present, and future. 38
30910412 2019
25
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. 38
30719842 2019
26
Congenital absence of lingual frenum in a non-syndromic patient: a case report. 38
30851733 2019
27
Implications of Ankyloglossia on Breastfeeding. 38
30807325 2019
28
Association between ankyloglossia and breastfeeding. 38
30810632 2019
29
Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt. 38
29746156 2019
30
Development of a tongue-tie case definition in newborns using a Delphi survey: the NYU-Tongue-Tie Case Definition. 38
31227459 2019
31
Congenital lateral cleft palate with unilateral craniofacial microsomia and lateral ankyloglossia. 38
30700453 2019
32
Speech and Language Outcomes in Patients with Ankyloglossia Undergoing Frenulectomy: A Retrospective Pilot Study. 38
31236536 2019
33
Diagnosis, classification and management of ankyloglossia including its influence on breastfeeding. 38
30954985 2019
34
The development and evaluation of a picture tongue assessment tool for tongue-tie in breastfed babies (TABBY). 38
31346346 2019
35
Frenotomy in Infants with Tongue-Tie and Breastfeeding Problems. 38
30543756 2018
36
Unmasking familial CPX by WES and identification of novel clinical signs. 38
30462376 2018
37
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? 38
30580470 2018
38
What does the world think of ankyloglossia? 38
29385272 2018
39
A multifaceted programme to reduce the rate of tongue-tie release surgery in newborn infants: Observational study. 38
30173975 2018
40
Epidemiological characteristics of Hirschsprung's disease (HSCR): Results of a case series of fifty patients from Bangladesh. 38
29429767 2018
41
Oral findings and its association with prenatal and perinatal factors in newborns. 38
30274505 2018
42
Quality, Readability, and Trends for Websites on Ankyloglossia. 38
29774762 2018
43
Is the Neonatal Tongue Screening Test a valid and reliable tool for detecting ankyloglossia in newborns? 38
29767443 2018
44
Ankyloglossia: Cohort and Results of Frenulotomies within Primary Health Setting. 38
29870096 2018
45
Safety of galcanezumab in patients with episodic migraine: A randomized placebo-controlled dose-ranging Phase 2b study. 38
29310444 2018
46
Ankyloglossia as an oral functional problem and its surgical management. 38
30152627 2018
47
Defining Tip-Frenulum Length for Ankyloglossia and Its Impact on Breastfeeding: A Prospective Cohort Study. 38
29620937 2018
48
Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1. 38
29610688 2018
49
The prevalence of ankyloglossia in 302 newborns with breastfeeding problems and sucking difficulties in Barcelona: a descriptive study. 38
29380619 2017
50
Effect of frenotomy on breastfeeding variables in infants with ankyloglossia (tongue-tie): a prospective before and after cohort study. 38
29132414 2017

Variations for Ankyloglossia with or Without Tooth Anomalies

ClinVar genetic disease variations for Ankyloglossia with or Without Tooth Anomalies:

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

Expression for Ankyloglossia with or Without Tooth Anomalies

Search GEO for disease gene expression data for Ankyloglossia with or Without Tooth Anomalies.

Pathways for Ankyloglossia with or Without Tooth Anomalies

Pathways related to Ankyloglossia with or Without Tooth Anomalies according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 LGR5 IRF6
2 10.71 SRCIN1 CDH4

GO Terms for Ankyloglossia with or Without Tooth Anomalies

Biological processes related to Ankyloglossia with or Without Tooth Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 8.62 TBX19 LGR5

Sources for Ankyloglossia with or Without Tooth Anomalies

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
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