ANKG
MCID: ANK020
MIFTS: 44

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 56
Ankyloglossia 56 12 54 43 15 32
Tongue Tie 29 6
'tongue-Tie' 56
Tongue-Tie 12
Ankg 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
ankyloglossia with or without tooth anomalies:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060604
OMIM 56 106280
ICD10 32 Q38.1
MedGen 41 C4759698

Summaries for Ankyloglossia with or Without Tooth Anomalies

OMIM : 56 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 with or without ankyloglossia, x-linked and van der woude syndrome 1. 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 Cells and Lineage-specific Markers and Regulation of FZD by ubiquitination. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include tongue, breast and bone, and related phenotypes are increased number of teeth and 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 : 74 Ankyloglossia, also known as tongue-tie, is a congenital oral anomaly that may decrease the mobility of... 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 81)
# Related Disease Score Top Affiliating Genes
1 cleft palate with or without ankyloglossia, x-linked 32.7 ZNF157 TBX22 MSX1 LONRF3 KLHL4 ITM2A
2 van der woude syndrome 1 32.7 TBX22 PAX9 MSX1 IRF6
3 cleft palate, isolated 30.6 TBX22 PAX9 MSX1 IRF6 BARX1
4 tooth size 30.6 PAX9 MSX1
5 cleft lip 30.4 TBX22 PAX9 MSX1 IRF6
6 tooth agenesis 29.9 TBX22 PAX9 MSX1 IRF6 BARX1
7 ulnar-mammary syndrome 29.6 TBX22 TBX19
8 tetraamelia syndrome 2 11.4
9 schimmelpenning-feuerstein-mims syndrome 11.2
10 cleft palate x-linked 10.6
11 cleft lip and alveolus 10.3 MSX1 IRF6
12 macroglossia 10.3
13 isolated cleft lip 10.3 MSX1 IRF6
14 pierre robin syndrome 10.2
15 benign teratoma 10.2
16 speech disorder 10.2
17 cleft tongue 10.2
18 popliteal pterygium syndrome 10.2 TBX22 MSX1 IRF6
19 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.2 TBX22 MSX1
20 anodontia 10.2 PAX9 MSX1
21 major affective disorder 8 10.2
22 major affective disorder 9 10.2
23 q fever 10.2
24 inflammatory spondylopathy 10.2
25 bipolar disorder 10.2
26 spondylitis 10.2
27 cleft lip with or without cleft palate 10.2 MSX1 IRF6
28 syngnathia 10.1 MSX1 IRF6 BARX1
29 polydactyly 10.1
30 teratoma 10.1
31 articulation disorder 10.1
32 witkop syndrome 10.1 PAX9 MSX1 BARX1
33 lymphoid interstitial pneumonia 10.1 PAX9 MSX1 IRF6
34 branchiooculofacial syndrome 10.1 MSX1 IRF6
35 gastroesophageal reflux 10.1
36 physical disorder 10.0 TBX22 PAX9 MSX1 IRF6
37 coloboma of macula 10.0
38 distichiasis 10.0
39 beckwith-wiedemann syndrome 10.0
40 epidermoid cysts 10.0
41 floating-harbor syndrome 10.0
42 hair whorl 10.0
43 huntington disease 10.0
44 lymphedema-distichiasis syndrome 10.0
45 moebius syndrome 10.0
46 hemifacial microsomia 10.0
47 neural tube defects 10.0
48 strabismus 10.0
49 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
50 cryptorchidism, unilateral or bilateral 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:

31
# Description HPO Frequency HPO Source Accession
1 increased number of teeth 31 very rare (1%) HP:0011069
2 ankyloglossia 31 HP:0010296

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Ankyloglossia with or Without Tooth Anomalies:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.17 BARX1 IRF6 LGR5 MSX1 PAX9 TBX22

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 19)
# 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 Phase 1, Phase 2
4 Anesthetics, Local Phase 1, Phase 2
5
Lidocaine Approved, Vet_approved 137-58-6 3676
6
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
7
Rocuronium Approved 119302-91-9, 143558-00-3 441290
8
Alfentanil Approved, Illicit 71195-58-9 51263
9
Sevoflurane Approved, Vet_approved 28523-86-6 5206
10
Trichostatin A Experimental 58880-19-6
11 Hemostatics
12 Hypnotics and Sedatives
13 Narcotics
14 Neuromuscular Blocking Agents
15 Anesthetics, General
16 Analgesics, Opioid
17 Anesthetics, Intravenous
18 Analgesics
19 Pharmaceutical Solutions

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 Impact of Lingual Frenotomy on Bottle Feeding Mechanics: a Randomized, Controlled Trial Recruiting NCT03793413
8 The Scope of Tongue-tie in Norway: Its Prevalence and Consequences for Child Health Not yet recruiting NCT04056936
9 Lingual Frenulotomy in the Newborn: a Randomized Clinical Trial to Evaluate the Analgesic Effect of a Water and Sugar Solution in a Minor Surgical Procedure Not yet recruiting NCT04440462

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:

40
Tongue, Breast, Bone, Testes, Heart, Skin

Publications for Ankyloglossia with or Without Tooth Anomalies

Articles related to Ankyloglossia with or Without Tooth Anomalies:

(show top 50) (show all 426)
# Title Authors PMID Year
1
Familial autosomal dominant severe ankyloglossia with tooth abnormalities. 56 61
29704302 2018
2
Familial Ankyloglossia -A Rare Report of three Cases in a Family. 56 61
28384993 2017
3
Autosomal-dominant ankyloglossia and tooth number anomalies. 56 61
20042737 2010
4
Inheritance of ankyloglossia (tongue-tie). 56 61
18983637 2009
5
Familial ankyloglossia (tongue-tie). 61 56
17588677 2007
6
[Dominantly hereditary ankyloglossia]. 61 56
13013390 1952
7
Tbx22 expressions during palatal development in fetuses with glucocorticoid-/alcohol-induced C57BL/6N cleft palates. 61 54
19816249 2009
8
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. 54 61
17868388 2007
9
Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. 61 54
12412015 2002
10
Speech production in young children with tongue-tie. 61
32298924 2020
11
Geometric model to predict improvement after lingual frenulectomy for ankyloglossia. 61
32387707 2020
12
Modest benefit of frenotomy for infants with ankyloglossia and breastfeeding difficulties. 61
32193010 2020
13
Comparison of Frenotomy Techniques for the Treatment of Ankyloglossia in Children: A Systematic Review. 61
32482127 2020
14
Primum non nocere: lingual frenotomy for breastfeeding problems, not as innocent as generally accepted. 61
32506218 2020
15
Maxillary Frenulum in Newborns: Association with Breastfeeding. 61
32204658 2020
16
Characteristics and considerations for children with ankyloglossia undergoing frenulectomy for dysphagia and aspiration. 61
31932026 2020
17
Ankyloglossia: Update on Trends in Diagnosis and Management in the United States, 2012-2016. 61
32427523 2020
18
Trends of ankyloglossia and lingual frenotomy in hospital settings among children in Denmark. 61
32351198 2020
19
Comparison of simple frenotomy with 4-flap Z-frenuloplasty in treatment for ankyloglossia with articulation difficulty: A prospective randomized study. 61
32540779 2020
20
Clinical Consensus Statement: Ankyloglossia in Children. 61
32283998 2020
21
Complications following frenotomy for ankyloglossia: A 24-month prospective New Zealand Paediatric Surveillance Unit study. 61
31714639 2020
22
Clinical Outcomes of Diode Laser Treatment of Ankyloglossia in Children and Young Adults: A Report of Two Cases. 61
32328379 2020
23
Speaking in Tongues: What Parents Really Think About Tongue-Tie Surgery for Their Infants. 61
31875407 2020
24
Dental changes in children with congenital Zika syndrome. 61
31742839 2020
25
Posterior Tongue Tie, Base of Tongue Movement, and Pharyngeal Dysphagia: What is the Connection? 61
31367903 2020
26
Is the Occurrence of Ankyloglossia in Newborns Associated with Breastfeeding Difficulties? 61
31916855 2020
27
Pre-conceptional folic acid supplementation: A possible cause for the increasing rates of ankyloglossia. 61
31835174 2020
28
Development of a tongue-tie case definition in newborns using a Delphi survey: The NYU-Tongue-Tie Case Definition. 61
31227459 2020
29
Quality indicators of hearing screening and evaluation of neonatal lingual frenulum. 61
32578835 2020
30
Ankyloglossia Superior Associated With Moebius Syndrome: A Case Report. 61
31557452 2020
31
Etiology and clinical recommendations to manage the complications following lingual frenectomy: A critical review. 61
31255827 2019
32
Ankyloglossia Identification, Diagnosis, and Frenotomy: A Qualitative Study of Community Referral Pathways. 61
31835960 2019
33
Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients. 61
31687254 2019
34
Goldenhar Syndrome in a Young Girl. 61
31659973 2019
35
Ankyloglossia: Last three-years of outpatient care at a tertiary referral center. 61
31352228 2019
36
Frenotomy in Infants with Tongue-Tie and Breastfeeding Problems. 61
30543756 2019
37
Tessier 30 Median Mandibular Hard and Soft Tissue Cleft, One-Stage Reconstruction Using a Template-Guided Resorbable "U"-Shaped Plate. 61
30971098 2019
38
Response to 'The value of frenotomy for ankyloglossia from a parental perspective'. 61
31581188 2019
39
Ankyloglossia and Other Oral Ties. 61
31353141 2019
40
Lingual frenuloplasty with myofunctional therapy: Exploring safety and efficacy in 348 cases. 61
31637291 2019
41
A Retrospective Cohort Study of Safety Outcomes in New Zealand Infants Exposed to Tdap Vaccine in Utero. 61
31614582 2019
42
Defining the anatomy of the neonatal lingual frenulum. 61
31116462 2019
43
What is a tongue tie? Defining the anatomy of the in-situ lingual frenulum. 61
30701608 2019
44
The Relationship of Ankyloglossia With Gender in Children and the Ideal Timing of Surgery in Ankyloglossia. 61
31558060 2019
45
Re:'The value of frenotomy for ankyloglossia from a parental perspective'. 61
31563932 2019
46
Response: 'The value of frenotomy for ankyloglossia from a parental perspective'. 61
31563933 2019
47
The value of frenotomy for ankyloglossia from a parental perspective. 61
31415501 2019
48
Association of Feeding Evaluation With Frenotomy Rates in Infants With Breastfeeding Difficulties. 61
31294774 2019
49
Treatment of ankyloglossia with dental laser in paediatric patients: Scoping review and a case report. 61
31246095 2019
50
Sevoflurane Inhalation Anesthesia for Uncooperative Pediatric Outpatients in the Treatment of Ankyloglossia: A Retrospective Study of 137 Cases. 61
31109230 2019

Variations for Ankyloglossia with or Without Tooth Anomalies

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)SNV Uncertain significance 133221 rs193922829 19:38995701-38995701 19:38505061-38505061
2 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)SNV Uncertain significance 598981 rs749541061 2:220424193-220424193 2:219559471-219559471
3 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)SNV Uncertain significance 598982 rs560246798 2:220423067-220423067 2:219558345-219558345

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 10.92 MSX1 LGR5 IRF6
2
Show member pathways
10.45 LGR6 LGR5

GO Terms for Ankyloglossia with or Without Tooth Anomalies

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 TBX22 TBX19 PAX9 MSX1 IRF6 BARX1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.63 TBX22 TBX19 PAX9 MSX1 IRF6 BARX1
2 regulation of transcription, DNA-templated GO:0006355 9.5 ZNF157 TBX22 TBX19 PAX9 MSX1 IRF6
3 odontogenesis GO:0042476 9.4 PAX9 MSX1
4 cell fate specification GO:0001708 9.37 TBX22 TBX19
5 face morphogenesis GO:0060325 9.32 PAX9 MSX1
6 pituitary gland development GO:0021983 9.26 TBX19 MSX1
7 regulation of odontogenesis GO:0042481 8.62 PAX9 MSX1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.8 ZNF157 TBX22 TBX19 PAX9 IRF6 BARX1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 TBX22 TBX19 PAX9 MSX1 IRF6 BARX1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.55 TBX22 TBX19 PAX9 MSX1 BARX1
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.02 TBX22 TBX19 PAX9 MSX1 BARX1
5 protein-hormone receptor activity GO:0016500 8.96 LGR6 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 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
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