MCID: CLF049
MIFTS: 32

Cleft Lip and Alveolus

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Cleft Lip and Alveolus

MalaCards integrated aliases for Cleft Lip and Alveolus:

Name: Cleft Lip and Alveolus 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q36.0 Q36.1 Q36.9
UMLS via Orphanet 71 C1298692
Orphanet 58 ORPHA141291

Summaries for Cleft Lip and Alveolus

MalaCards based summary : Cleft Lip and Alveolus is related to cleft lip and cleft lip/palate. An important gene associated with Cleft Lip and Alveolus is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Hypothetical Craniofacial Development Pathway. The drugs Fentanyl and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are lip pit and abnormal nasal morphology

Related Diseases for Cleft Lip and Alveolus

Diseases related to Cleft Lip and Alveolus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 cleft lip 30.1 TP63 NECTIN1 MSX1 IRF6
2 cleft lip/palate 29.8 TP63 NECTIN1 MSX1 IRF6
3 cleft palate, isolated 29.0 TP63 NECTIN1 MSX1 IRF6
4 hair whorl 10.3
5 teeth, supernumerary 10.1
6 bartsocas-papas syndrome 9.9 TP63 IRF6
7 orofacial cleft 8 9.9 TP63 IRF6
8 ankyloblepharon-ectodermal defects-cleft lip/palate 9.9 TP63 IRF6
9 syngnathia 9.9 MSX1 IRF6
10 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 MSX1 IRF6
11 ankyloglossia with or without tooth anomalies 9.9 MSX1 IRF6
12 branchiooculofacial syndrome 9.8 MSX1 IRF6
13 physical disorder 9.8 MSX1 IRF6
14 clouston syndrome 9.7 TP63 NECTIN1
15 stickler syndrome 9.7 MSX1 IRF6
16 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.6 NECTIN1 MSX1
17 kallmann syndrome 9.6 MSX1 IRF6
18 cleft lip/palate-ectodermal dysplasia syndrome 9.5 TP63 NECTIN1 IRF6
19 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.5 TP63 NECTIN1 IRF6
20 popliteal pterygium syndrome 9.5 NECTIN1 MSX1 IRF6
21 ectodermal dysplasia 9.5 TP63 NECTIN1 MSX1
22 cleft lip with or without cleft palate 9.5 NECTIN1 MSX1 IRF6
23 isolated cleft lip 9.2 TP63 NECTIN1 MSX1 IRF6
24 van der woude syndrome 1 9.2 TP63 NECTIN1 MSX1 IRF6
25 lymphoid interstitial pneumonia 9.2 TP63 NECTIN1 MSX1 IRF6
26 chromosome 2q35 duplication syndrome 9.2 TP63 NECTIN1 MSX1 IRF6
27 tooth agenesis 9.2 TP63 NECTIN1 MSX1 IRF6
28 orofacial cleft 9.2 TP63 NECTIN1 MSX1 IRF6

Graphical network of the top 20 diseases related to Cleft Lip and Alveolus:



Diseases related to Cleft Lip and Alveolus

Symptoms & Phenotypes for Cleft Lip and Alveolus

Human phenotypes related to Cleft Lip and Alveolus:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lip pit 58 31 hallmark (90%) Very frequent (99-80%) HP:0100267
2 abnormal nasal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005105
3 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
4 abnormal pattern of respiration 58 31 frequent (33%) Frequent (79-30%) HP:0002793
5 impaired mastication 58 31 frequent (33%) Frequent (79-30%) HP:0005216
6 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
7 abnormality of masticatory muscle 58 31 frequent (33%) Frequent (79-30%) HP:0410011
8 disturbance of facial expression 58 31 frequent (33%) Frequent (79-30%) HP:0005324
9 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
10 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
11 abnormality of the nasal septum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000419
12 abnormality of the face 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Cleft Lip and Alveolus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 IRF6 MSX1 NECTIN1 TP63
2 integument MP:0010771 9.46 IRF6 MSX1 NECTIN1 TP63
3 limbs/digits/tail MP:0005371 9.13 IRF6 MSX1 TP63
4 skeleton MP:0005390 8.92 IRF6 MSX1 NECTIN1 TP63

Drugs & Therapeutics for Cleft Lip and Alveolus

Drugs for Cleft Lip and Alveolus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
8 Anesthetics Phase 4
9 Adrenergic alpha-Agonists Phase 4
10 Hypnotics and Sedatives Phase 4
11 Anesthetics, General Phase 4
12 Narcotics Phase 4
13 Anesthetics, Dissociative Phase 4
14 Excitatory Amino Acid Antagonists Phase 4
15 Anesthetics, Intravenous Phase 4
16 Analgesics Phase 4
17 Adrenergic Agonists Phase 4
18 Adrenergic Agents Phase 4
19 Analgesics, Opioid Phase 4
20 Neurotransmitter Agents Phase 4
21 Analgesics, Non-Narcotic Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Opioid Free Anaesthesia vs Opioid Based Anesthesia in Cleft Lip, Palate ,Alveolus Surgery. Not yet recruiting NCT04081909 Phase 4 Fentanyl,Remifentanil;Ketamine,Dexmedetomidine

Search NIH Clinical Center for Cleft Lip and Alveolus

Genetic Tests for Cleft Lip and Alveolus

Anatomical Context for Cleft Lip and Alveolus

MalaCards organs/tissues related to Cleft Lip and Alveolus:

40
Bone

Publications for Cleft Lip and Alveolus

Articles related to Cleft Lip and Alveolus:

(show top 50) (show all 138)
# Title Authors PMID Year
1
The application of three-dimensional ultrasound with reformatting technique in the diagnosis of fetal cleft lip/palate. 61
33665816 2021
2
Mind the Gap: Alveolar Bone Graft Revision in the Era of Computed Tomography. 61
33789502 2021
3
Variations in Orofacial Clefts. 61
33705067 2021
4
Patient satisfaction and quality of life after orthodontic treatment for cleft lip and palate deformity. 61
33683466 2021
5
Relationship Between Crown to Root Ratio and Alveolar Bone Support in Patients With Unilateral Cleft Lip and Alveolus. 61
32808559 2021
6
Changes in maxillary dental arch morphology after implant treatment in the alveolar cleft region. 61
33342089 2020
7
Distribution, side involvement, phenotype and associated anomalies of Korean patients with craniofacial clefts from single university hospitalbased data obtained during 1998-2018. 61
33144527 2020
8
Comparison of 2- and 3-dimensional radiologic evaluation of secondary alveolar bone grafting of clefts: a systematic review. 61
32553577 2020
9
Management of Severe Midface Retrusion With Distraction Osteogenesis in Patients With Cleft Lip and Alveolus. 61
32877156 2020
10
Management of Orofacial Cleft in Nigeria - A Retrospective Study. 61
33708591 2020
11
Three-Dimensional Evaluation of Change in Maxillary Alveolar Arch after Expansion in Unilateral Cleft Lip and Palate Patients. 61
32522935 2020
12
Morphological variability in unrepaired bilateral clefts with and without cleft palate evaluated with geometric morphometrics. 61
31792971 2020
13
Three-dimensional assessment of the pharyngeal airway in Japanese preschoolers with orofacial clefts. 61
30977521 2020
14
Pattern of Morphological Variability in Unrepaired Unilateral Clefts With and Without Cleft Palate May Suggest Intrinsic Growth Deficiency. 61
33363145 2020
15
Evaluation of Sella Turcica Bridging and Morphology in Different Types of Cleft Patients. 61
32793599 2020
16
Three-dimensional evaluation of mandibular volume in patients with cleft lip and palate during the deciduous dentition period. 61
31398065 2020
17
Dental Characteristics of Different Types of Cleft and Non-cleft Individuals. 61
32984313 2020
18
Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging. 61
31169321 2019
19
Eighteen-Year Follow-Up of 160 Consecutive Individuals Born With Unilateral Cleft Lip or Cleft Lip and Alveolus Treated by the Oslo Cleft Lip and Palate Team. 61
30686058 2019
20
A New Technique for Retracting the Protrusive Premaxilla With Fewer Patient Visits. 61
29940128 2019
21
Orthodontic burden of care for patients with a cleft lip and/or palate. 61
31056071 2019
22
Outcomes of Alveolar Graft With Rhbmp-2 in CLP: Influence of Cleft Type and Width, Canine Eruption, and Surgeon. 61
29924638 2019
23
Nasal Obstruction in Children With Cleft Lip and Palate: Results of a Cross-Sectional Study Utilizing the NOSE Scale. 61
29698113 2019
24
Ectopic intranasal canine tooth in a child: A rare case report and literature review. 61
30769299 2019
25
A New Paradigm in Cleft Lip Procedural Excellence: Creation and Preliminary Digital Validation of a Lifelike Simulator. 61
30511984 2018
26
Subphenotyping and Classification of Cleft Lip and Alveolus in Adult Unoperated Patients: A New Embryological Approach. 61
29652537 2018
27
Post-surgical effects on the maxillary segments of children with oral clefts: New three-dimensional anthropometric analysis. 61
30029840 2018
28
The Skoog Lip Repair for Unilateral Cleft Lip Deformity: The Uppsala Experience. 61
29697619 2018
29
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. 61
29796876 2018
30
The Effect of Nasoalveolar Molding on Nasal Airway Anatomy: A 9-Year Follow-up of Patients With Unilateral Cleft Lip and Palate. 61
29356619 2018
31
A Longitudinal Study of the Presence of Dental Anomalies in the Primary and Permanent Dentitions of Cleft Lip and/or Palate Patients. 61
27031269 2017
32
Skoog Primary Periosteoplasty versus Secondary Alveolar Bone Grafting in Unilateral Cleft Lip and Alveolus: Long-Term Effects on Alveolar Bone Formation and Maxillary Growth. 61
28027239 2017
33
Replantation of a displaced incisor in a boy with a cleft lip and alveolus: a case report. 61
27633512 2016
34
Asymmetric Dental Development Investigated by Cone-Beam Computed Tomography in Patients With Unilateral Cleft Lip and Alveolus. 61
26274901 2016
35
Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate. 61
26775633 2016
36
Upward Advancement of the Nasolabial Components at Unilateral Cleft Lip Repair Prevents Postoperative Long Lip. 61
25794018 2016
37
Cleft sidedness and congenitally missing teeth in patients with cleft lip and palate patients. 61
27135068 2016
38
Regional facial asymmetries in unilateral orofacial clefts. 61
25700990 2015
39
Nasolabial symmetry and esthetics in cleft lip and palate: analysis of 3D facial images. 61
25802221 2015
40
Morphological analysis of the lip and nose following cleft lip repair with simultaneous partial primary rhinoplasty: A prospective study over 4 years. 61
25843646 2015
41
Prediction of the Need for Orthognathic Surgery in Patients With Cleft Lip and/or Palate. 61
26080148 2015
42
Three-dimensional digital evaluation of dental arches in infants with cleft lip and/or palate. 61
26200157 2015
43
Case presentation of an intranasal ectopic tooth in a pediatric patient. 61
25749544 2015
44
Oblique lip-alveolar banding in patients with cleft lip and palate. 61
25727035 2015
45
The caries prevalence of oral clefts in eastern China. 61
26629151 2015
46
Effects of lip repair on maxillofacial morphology in patients with unilateral cleft lip with or without cleft palate. 61
24437585 2014
47
Comparison of tooth development stage of the maxillary anterior teeth before and after secondary alveolar bone graft: Unilateral cleft lip and alveolus vs unilateral cleft lip and palate. 61
24731061 2014
48
3D comparison of average faces in subjects with oral clefts. 61
23172581 2014
49
3D facial morphometry in children with oral clefts. 61
23614699 2014
50
Investigation of Parental Transmission of RUNX2 Single Nucleotide Polymorphism and Its Association With Nonsyndromic Cleft Lip With or Without Palate. 61
23909516 2014

Variations for Cleft Lip and Alveolus

Expression for Cleft Lip and Alveolus

Search GEO for disease gene expression data for Cleft Lip and Alveolus.

Pathways for Cleft Lip and Alveolus

Pathways related to Cleft Lip and Alveolus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 TP63 MSX1 IRF6
2 9.86 TP63 IRF6

GO Terms for Cleft Lip and Alveolus

Cellular components related to Cleft Lip and Alveolus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.8 TP63 MSX1 IRF6

Biological processes related to Cleft Lip and Alveolus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.61 TP63 MSX1 IRF6
2 roof of mouth development GO:0060021 9.4 MSX1 IRF6
3 keratinocyte differentiation GO:0030216 9.37 TP63 IRF6
4 odontogenesis of dentin-containing tooth GO:0042475 9.32 TP63 MSX1
5 embryonic limb morphogenesis GO:0030326 9.26 TP63 MSX1
6 embryonic forelimb morphogenesis GO:0035115 9.16 TP63 MSX1
7 embryonic hindlimb morphogenesis GO:0035116 8.96 TP63 MSX1
8 cranial skeletal system development GO:1904888 8.62 TP63 IRF6

Molecular functions related to Cleft Lip and Alveolus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 TP63 MSX1 IRF6
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.32 TP63 IRF6
3 p53 binding GO:0002039 9.16 TP63 MSX1
4 sequence-specific DNA binding GO:0043565 9.13 TP63 MSX1 IRF6
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.8 TP63 MSX1 IRF6

Sources for Cleft Lip and Alveolus

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....