ANKG
MCID: ANK020
MIFTS: 46

Ankyloglossia with or Without Tooth Anomalies (ANKG)

Categories: Gastrointestinal diseases, Oral diseases, Smell/Taste 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 54 15 32
Tongue Tie 29 6
'tongue-Tie' 57
Tongue-Tie 12
Ankg 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 106280
ICD10 32 Q38.1
MedGen 41 C4759698

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) (Updated 05-Mar-2021)

MalaCards based summary : Ankyloglossia with or Without Tooth Anomalies, also known as ankyloglossia, is related to van der woude syndrome 1 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 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 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 89)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 1 31.7 TBX22 PAX9 MSX1 IRF6
2 cleft palate with or without ankyloglossia, x-linked 31.5 ZNF157 TBX22 MSX1 LONRF3 KLHL4 ITM2A
3 cleft palate, isolated 30.3 TBX22 TBX1 PAX9 MSX1 IRF6 BARX1
4 tooth size 30.2 PAX9 MSX1
5 cleft lip 30.2 TBX22 PAX9 MSX1 IRF6
6 cleft lip/palate 29.9 TBX22 MSX1 IRF6
7 tooth agenesis 29.8 TBX22 PAX9 MSX1 IRF6 BARX1
8 hemifacial microsomia 29.7 TBX1 MSX1
9 ulnar-mammary syndrome 29.6 TBX22 TBX19 TBX1
10 choanal atresia, posterior 29.4 TBX22 TBC1D32
11 tetraamelia syndrome 2 11.1
12 schimmelpenning-feuerstein-mims syndrome 10.9
13 cleft lip and alveolus 10.2 MSX1 IRF6
14 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.2 TBX22 MSX1 IRF6
15 isolated cleft lip 10.2 MSX1 IRF6
16 tooth agenesis, selective, 1 10.2 PAX9 MSX1
17 popliteal pterygium syndrome 10.2 TBX22 MSX1 IRF6
18 branchiooculofacial syndrome 10.2 TBX22 MSX1 IRF6
19 syngnathia 10.1 MSX1 IRF6 BARX1
20 witkop syndrome 10.1 PAX9 MSX1 BARX1
21 anodontia 10.1 PAX9 MSX1
22 macroglossia 10.1
23 lymphoid interstitial pneumonia 10.1 TBX22 PAX9 MSX1 IRF6
24 stickler syndrome 10.1 TBX22 MSX1 IRF6
25 physical disorder 10.1 TBX22 PAX9 MSX1 IRF6
26 benign teratoma 10.0
27 speech disorder 10.0
28 cleft tongue 10.0
29 moebius syndrome 9.9
30 polydactyly 9.9
31 teratoma 9.9
32 articulation disorder 9.9
33 gastroesophageal reflux 9.9
34 pierre robin syndrome 9.9
35 ludwig's angina 9.9
36 47,xyy 9.9
37 anxiety 9.9
38 major affective disorder 8 9.9
39 major affective disorder 9 9.9
40 q fever 9.9
41 bipolar disorder 9.9
42 neuroblastoma 9.9
43 cleft soft palate 9.9 TTC28 TBX22 PITPNB IRF6
44 coloboma of macula 9.8
45 distichiasis 9.8
46 beckwith-wiedemann syndrome 9.8
47 epidermoid cysts 9.8
48 floating-harbor syndrome 9.8
49 hair whorl 9.8
50 huntington disease 9.8

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.81 BARX1 IRF6 LGR5 MSX1 PAX9 TBC1D32
2 digestive/alimentary MP:0005381 9.56 BARX1 IRF6 LGR5 MSX1 PAX9 TBC1D32
3 limbs/digits/tail MP:0005371 9.1 IRF6 MSX1 PAX9 TBC1D32 TBX1 TTC28

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

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 Anterior Lingual Frenectomy is Inadequate in Improving Breastfeeding Outcomes: a Prospective Cohort Study Completed NCT02936518
3 Breastfeeding Improvement Following Tongue-tie and Lip-tie Release: A Prospective Cohort Study Completed NCT02642133
4 Randomized, Controlled Trial Evaluating Lingual Frenotomy in Newborns With Simultaneous Lip Tie for the Relief of Breastfeeding Pain. Completed NCT02141243
5 Ankyloglossia in Neonates. Incidence of Short Sublingual Frenulum in Newborns at the Hospital Nostra Senyora de Meritxell. Relationship With Auxological Data, Associated Malformations or Diseases and Hereditary Component of the Newborn. Completed NCT04703946
6 Efficacy of Neonatal Release of Ankyloglossia Completed NCT00967915
7 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
8 The Impact of Lingual Frenotomy on Bottle Feeding Mechanics: a Randomized, Controlled Trial Recruiting NCT03793413
9 The Scope of Tongue-tie in Norway: Its Prevalence and Consequences for Child Health Not yet recruiting NCT04056936

Search NIH Clinical Center for Ankyloglossia with or Without Tooth Anomalies

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, Heart, Skin

Publications for Ankyloglossia with or Without Tooth Anomalies

Articles related to Ankyloglossia with or Without Tooth Anomalies:

(show top 50) (show all 452)
# Title Authors PMID Year
1
Familial autosomal dominant severe ankyloglossia with tooth abnormalities. 61 57
29704302 2018
2
Familial Ankyloglossia -A Rare Report of three Cases in a Family. 57 61
28384993 2017
3
Autosomal-dominant ankyloglossia and tooth number anomalies. 57 61
20042737 2010
4
Inheritance of ankyloglossia (tongue-tie). 61 57
18983637 2009
5
Familial ankyloglossia (tongue-tie). 61 57
17588677 2007
6
[Dominantly hereditary ankyloglossia]. 61 57
13013390 1952
7
Tbx22 expressions during palatal development in fetuses with glucocorticoid-/alcohol-induced C57BL/6N cleft palates. 54 61
19816249 2009
8
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. 61 54
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
Prevalence of neonatal ankyloglossia in a tertiary care hospital in Spain: a transversal cross-sectional study. 61
32803423 2021
11
The Relationship of Ankyloglossia With Gender in Children and the Ideal Timing of Surgery in Ankyloglossia. 61
31558060 2021
12
Sevoflurane Inhalation Anesthesia for Uncooperative Pediatric Outpatients in the Treatment of Ankyloglossia: A Retrospective Study of 137 Cases. 61
31109230 2021
13
A systematic review: The effects of frenotomy on breastfeeding and speech in children with ankyloglossia. 61
33501864 2021
14
Presence of ankyloglossia and breastfeeding in babies born in Lima, Peru: a longitudinal study. 61
33503211 2021
15
Assessment of posterior tongue mobility using lingual-palatal suction: Progress towards a functional definition of ankyloglossia. 61
33386612 2021
16
How to Treat a Tongue-tie: An Evidence-based Algorithm of Care. 61
33564576 2021
17
[Age-related dynamics of mouth opening and tongue mobility in children with various forms of epidermolysis bullosa]. 61
33528957 2021
18
Tongue function characteristics in infants experiencing breastfeeding difficulties and changes in breastfeeding after frenotomy procedures. 61
33459889 2021
19
Endodontic management of a patient with dystrophic epidermolysis bullosa: A case report. 61
33368821 2020
20
Short lingual frenum in infants, children and adolescents. Part 1: Breastfeeding and gastroesophageal reflux disease improvement after tethered oral tissues release. 61
33337908 2020
21
Symptoms of problematic feeding in infants under 1 year of age undergoing frenotomy: A review article. 61
32654280 2020
22
Delayed Hemorrhage Following Laser Frenotomy Leading to Hypovolemic Shock. 61
33370541 2020
23
Sox2 Controls Periderm and Rugae Development to Inhibit Oral Adhesions. 61
32674684 2020
24
Major complications after tongue-tie release: A case report and systematic review. 61
32927351 2020
25
Factors associated with frenotomy after a multidisciplinary assessment of infants with breastfeeding difficulties. 61
32738672 2020
26
Ankyloglossia: Conscientious Use of Best Evidence Amid the Controversy. 61
33137274 2020
27
The prevalence of ankyloglossia in children aged <1 year: a systematic review and meta-analysis. 61
33188284 2020
28
Ankyloglossia: Update on Trends in Diagnosis and Management in the United States, 2012-2016. 61
32427523 2020
29
Lacking Consensus: The Management of Ankyloglossia in Children. 61
33137275 2020
30
Trends in outpatient intervention for pediatric ankyloglossia. 61
33152977 2020
31
Upper Lip Tie: Anatomy, Effect on Breastfeeding, and Correlation With Ankyloglossia. 61
33006413 2020
32
Ankyloglossia Superior Syndrome With Complex Craniofacial Anomalies: Case Report and Literature Review. 61
33043685 2020
33
Oromandibular Limb Hypogenesis Syndrome: Overlap of Moebius and Ankyloglossia Superior With Severe Limb Defects. 61
32909817 2020
34
Comparison of simple frenotomy with 4-flap Z-frenuloplasty in treatment for ankyloglossia with articulation difficulty: A prospective randomized study. 61
32540779 2020
35
Comparison of Frenotomy Techniques for the Treatment of Ankyloglossia in Children: A Systematic Review. 61
32482127 2020
36
[Diagnosis and treatment of ankyloglossia in newborns and infants]. 61
32865366 2020
37
Ankyloglossia Identification, Diagnosis, and Frenotomy : A Qualitative Study of Community Referral Pathways. 61
31835960 2020
38
Primum non nocere: lingual frenotomy for breastfeeding problems, not as innocent as generally accepted. 61
32506218 2020
39
Speech production in young children with tongue-tie. 61
32298924 2020
40
Double lingual frenulum: a case report. 61
32711574 2020
41
Geometric model to predict improvement after lingual frenulectomy for ankyloglossia. 61
32387707 2020
42
Three case reports of infants with ankyloglossia affecting breastfeeding. 61
32724012 2020
43
Modest benefit of frenotomy for infants with ankyloglossia and breastfeeding difficulties. 61
32193010 2020
44
Maxillary Frenulum in Newborns: Association with Breastfeeding. 61
32204658 2020
45
Clinical Consensus Statement: Ankyloglossia in Children. 61
32283998 2020
46
Characteristics and considerations for children with ankyloglossia undergoing frenulectomy for dysphagia and aspiration. 61
31932026 2020
47
Trends of ankyloglossia and lingual frenotomy in hospital settings among children in Denmark. 61
32351198 2020
48
Complications following frenotomy for ankyloglossia: A 24-month prospective New Zealand Paediatric Surveillance Unit study. 61
31714639 2020
49
Clinical Outcomes of Diode Laser Treatment of Ankyloglossia in Children and Young Adults: A Report of Two Cases. 61
32328379 2020
50
Speaking in Tongues: What Parents Really Think About Tongue-Tie Surgery for Their Infants. 61
31875407 2020

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.3341G>A (p.Trp1114Ter) SNV Uncertain significance 598982 rs560246798 2:220423067-220423067 2:219558345-219558345
3 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) SNV Uncertain significance 598981 rs749541061 2:220424193-220424193 2:219559471-219559471

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 chromatin GO:0000785 9.17 TBX22 TBX19 TBX1 PAX9 MSX1 IRF6

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 transcription by RNA polymerase II GO:0006357 10.01 ZNF157 TBX22 TBX19 TBX1 PAX9 MSX1
2 regulation of transcription, DNA-templated GO:0006355 9.86 ZNF157 TBX22 TBX19 TBX1 PAX9 MSX1
3 anterior/posterior pattern specification GO:0009952 9.61 TBX1 MSX1 BARX1
4 roof of mouth development GO:0060021 9.54 TBC1D32 MSX1 IRF6
5 heart morphogenesis GO:0003007 9.5 TBX19 TBX1 MSX1
6 pituitary gland development GO:0021983 9.48 TBX19 MSX1
7 middle ear morphogenesis GO:0042474 9.46 TBX1 MSX1
8 regulation of odontogenesis GO:0042481 9.16 PAX9 MSX1
9 cell fate specification GO:0001708 9.13 TBX22 TBX19 TBX1
10 face morphogenesis GO:0060325 8.8 TBX1 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 GO:0003677 9.92 ZNF157 TBX22 TBX19 TBX1 PAX9 MSX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.88 ZNF157 TBX22 TBX19 TBX1 PAX9 IRF6
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.67 TBX22 PAX9 MSX1 BARX1
4 sequence-specific double-stranded DNA binding GO:1990837 9.65 TBX19 TBX1 PAX9 MSX1 IRF6
5 DNA-binding transcription factor activity GO:0003700 9.43 TBX22 TBX19 TBX1 PAX9 IRF6 BARX1
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 ZNF157 TBX22 TBX19 TBX1 PAX9 MSX1
7 protein-hormone receptor activity GO:0016500 9.16 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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