MCID: ISL109
MIFTS: 33

Isolated Cleft Lip

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Cleft Lip

MalaCards integrated aliases for Isolated Cleft Lip:

Name: Isolated Cleft Lip 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Isolated Cleft Lip

MalaCards based summary : Isolated Cleft Lip is related to cleft lip and cleft lip/palate. An important gene associated with Isolated Cleft Lip 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 Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include whole blood, thyroid and endothelial, and related phenotypes are chronic otitis media and bilateral cleft lip

Related Diseases for Isolated Cleft Lip

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 cleft lip 29.8 TP63 TBX10 NECTIN1 MSX1 IRF6 FOXE1
2 cleft lip/palate 29.7 TP63 NECTIN1 MSX1 IRF6 FOXE1
3 cleft lip with or without cleft palate 29.7 TBX10 NECTIN1 MSX1 IRF6 FOXE1
4 basal cell carcinoma 29.5 TP63 GSTT1 GSTM1 FOXE1
5 tooth agenesis 29.2 TP63 NECTIN1 MSX1 IRF6
6 van der woude syndrome 1 28.7 TP63 TBX10 NECTIN1 MSX1 IRF6 FOXE1
7 cleft palate, isolated 28.6 TRMO TP63 TBX10 NECTIN1 MSX1 IRF6
8 orofacial cleft 6 11.1
9 thyroid malformation 10.2 TBX10 FOXE1
10 leukoplakia 10.2 GSTT1 GSTM1
11 orofacial clefting syndrome 10.2
12 hearing loss, noise-induced 10.2 GSTT1 GSTM1
13 sister chromatid exchange, frequency of 10.2 GSTT1 GSTM1
14 thyroid tumor 10.2 GSTT1 GSTM1
15 mutagen sensitivity 10.2 GSTT1 GSTM1
16 choanal atresia, posterior 10.2 TBX10 FOXE1
17 beta-thalassemia major 10.1 GSTT1 GSTM1
18 otitis media 10.1
19 bartsocas-papas syndrome 10.1 TP63 IRF6
20 gastroesophageal adenocarcinoma 10.1 GSTT1 GSTM1
21 orofacial cleft 8 10.1 TP63 IRF6
22 cardia cancer 10.1 GSTT1 GSTM1
23 ankyloblepharon-ectodermal defects-cleft lip/palate 10.0 TP63 IRF6
24 syngnathia 10.0 MSX1 IRF6
25 ankyloglossia with or without tooth anomalies 10.0 MSX1 IRF6
26 asbestosis 10.0 GSTT1 GSTM1
27 gastroesophageal reflux 10.0
28 basal cell nevus syndrome 10.0
29 orofacial cleft 1 10.0
30 hair whorl 10.0
31 kabuki syndrome 1 10.0
32 medulloblastoma 10.0
33 optic nerve hypoplasia, bilateral 10.0
34 split-hand/foot malformation 1 10.0
35 teeth, supernumerary 10.0
36 down syndrome 10.0
37 corpus callosum, agenesis of 10.0
38 holoprosencephaly 1 10.0
39 abnormal hair, joint laxity, and developmental delay 10.0
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
41 neuropathy, congenital hypomyelinating, 2 10.0
42 fetal alcohol syndrome 10.0
43 alcohol-related birth defect 10.0
44 sleep apnea 10.0
45 autism spectrum disorder 10.0
46 hypothyroidism 10.0
47 aggressive periodontitis 10.0
48 ventricular septal defect 10.0
49 heart septal defect 10.0
50 atrial heart septal defect 10.0

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



Diseases related to Isolated Cleft Lip

Symptoms & Phenotypes for Isolated Cleft Lip

Human phenotypes related to Isolated Cleft Lip:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
2 bilateral cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100336
3 macrodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001572
4 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
5 velopharyngeal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000220
6 speech articulation difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0009088
7 maternal teratogenic exposure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011438
8 supernumerary maxillary incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006332
9 low self esteem 58 31 occasional (7.5%) Occasional (29-5%) HP:0031469
10 abnormality of the eustachian tube 58 31 occasional (7.5%) Occasional (29-5%) HP:0040115
11 umbilical hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0001537
12 specific learning disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001328
13 talipes equinovarus 58 31 very rare (1%) Very rare (<4-1%) HP:0001762
14 conductive hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000405
15 polyhydramnios 58 31 very rare (1%) Very rare (<4-1%) HP:0001561
16 hypodontia 58 31 very rare (1%) Very rare (<4-1%) HP:0000668
17 situs inversus totalis 58 31 very rare (1%) Very rare (<4-1%) HP:0001696
18 behavioral abnormality 58 Occasional (29-5%)
19 non-midline cleft lip 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Isolated Cleft Lip:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.1 FOXE1 IRF6 MSX1 NECTIN1 TBX10 TP63

Drugs & Therapeutics for Isolated Cleft Lip

Search Clinical Trials , NIH Clinical Center for Isolated Cleft Lip

Genetic Tests for Isolated Cleft Lip

Anatomical Context for Isolated Cleft Lip

MalaCards organs/tissues related to Isolated Cleft Lip:

40
Whole Blood, Thyroid, Endothelial, Pituitary

Publications for Isolated Cleft Lip

Articles related to Isolated Cleft Lip:

(show top 50) (show all 253)
# Title Authors PMID Year
1
Maternal Vitamin B12 Status and Risk of Cleft Lip and Cleft Palate Birth Defects in Tamil Nadu State, India. 61
33686867 2021
2
Variations in Orofacial Clefts. 61
33705067 2021
3
Incidence of cleft-related speech problems in children with an isolated cleft lip. 61
32500400 2021
4
Duration of Surgery, Ventilation, and Length of Hospital Stay Do Not Affect Breastfeeding in Newborns After Early Cleft Lip Repair. 61
32799648 2021
5
Brain structure and neural activity related to reading in boys with isolated oral clefts. 61
33557685 2021
6
A Retrospective Cohort Study to Evaluate the Association Between Types of Nonsyndromic Oral Clefts and a Child's Gender and Maternal Age. 61
33688478 2021
7
Cleft Lip and Palate in Newborns Diagnosed With Neonatal Abstinence Syndrome. 61
32689883 2021
8
Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate. 61
33303814 2020
9
Sociodemographic Predictors of Patient Age at Time of Cleft Lip and Palate Repair. 61
32787637 2020
10
Prenatal Ultrasound Measurement of Fetal Stomach Size Is Predictive of Postnatal Development of GERD in Isolated Cleft Lip and/or Palate. 61
33153316 2020
11
The Likelihood of Orthognathic Surgery After Orofacial Cleft Repair: A Systematic Review and Meta-Analysis. 61
33235169 2020
12
Pregnancy Termination in the Case of an Orofacial Cleft: An Investigation of the Concept of Reproductive Autonomy. 61
32495649 2020
13
Evaluation of Multidisciplinary Team Clinic for Patients With Isolated Cleft Lip. 61
31961207 2020
14
Assessment of Nutrition and Feeding Interventions in Turkish Infants with Cleft Lip and/or Palate. 61
31324414 2020
15
Word Reading in Boys With Isolated Oral Clefts: Comparison to Unaffected Average and Dyslexic Readers Using the Dual-Route Model. 61
31370691 2020
16
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 61
31408229 2019
17
Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging. 61
31169321 2019
18
The Prevalence of Cleft Lip and Palate Patients: A Single-Center Experience for 17 Years. 61
31565688 2019
19
Survey of North American Multidisciplinary Cleft Palate and Craniofacial Team Clinic Administration. 61
29781722 2019
20
Delayed access to care and unmet burden of pediatric surgical disease in resource-constrained African countries. 61
30017069 2019
21
Predicting the Ideal Patient for Ambulatory Cleft Lip Repair. 61
29924657 2019
22
Psychosocial Functioning of Children in a Craniofacial Support Group. 61
29746154 2019
23
Proportion of Orofacial Clefts Attributable to Recognized Risk Factors. 61
29727221 2019
24
Associations between Orofacial Clefting and Neonatal Abstinence Syndrome. 61
30859050 2019
25
A genome-wide scan of cleft lip triads identifies parent-of-origin interaction effects between ANK3 and maternal smoking, and between ARHGEF10 and alcohol consumption. 61
31372216 2019
26
Trends in Enteral Access Placement Among Patients With Oral Clefts: Evaluation of 46 617 Patient Admissions. 61
29672164 2019
27
[Genetic analysis of 100 fetuses with cleft lip with or without palate]. 61
30298484 2018
28
A survey of health professionals' views on acceptable gestational age and termination of pregnancy for fetal anomaly. 61
29777898 2018
29
Audiological Alterations in Patients With Cleft Palate. 61
30028407 2018
30
Epidemiology of orofacial clefts in a Danish county over 35 years - Before and after implementation of a prenatal screening programme for congenital anomalies. 61
29753919 2018
31
Chromosomal microarray analysis in the prenatal diagnosis of orofacial clefts: Experience from a single medical center in mainland China. 61
30142861 2018
32
Postpartum Depression in Mothers of Infants With Cleft Lip and/or Palate. 61
29481498 2018
33
Rethinking isolated cleft lip and palate as a syndrome. 61
29500156 2018
34
Speech evaluation after intravelar veloplasty. How to use Borel-Maisonny classification in the international literature? 61
29175511 2018
35
Seasonal Variation of Orofacial Clefts. 61
29215449 2018
36
Individual deprivation, regional deprivation, and risk for oral clefts in Argentina. 61
29466515 2018
37
A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG. 61
29535761 2018
38
Isolated Cleft Lip and Palate: Maxillary Gap Sign and Palatino-Maxillary Diameter at 11-13 Weeks. 61
29073631 2018
39
A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts. 61
28662356 2017
40
Breastfeeding After Early Repair of Cleft Lip in Newborns With Cleft Lip or Cleft Lip and Palate in a Baby-Friendly Designated Hospital. 61
28604150 2017
41
Clinical effectiveness of late maxillary protraction in cleft lip and palate: A methods paper. 61
28643931 2017
42
Breast Milk Feeding Rates in Patients With Cleft Lip and Palate at a North American Craniofacial Center. 61
27043654 2017
43
[Approach of the unilateral cleft lip with Meara's cheiloplasty technique]. 61
28857535 2017
44
Ear Infection in Isolated Cleft Lip: Etiological Implications. 61
26153759 2017
45
The Relationship of Exposure to Anesthesia on Outcomes in Children With Isolated Oral Clefts. 61
28193114 2017
46
Congenital malformations and medical conditions associated with orofacial clefts in children in Burkina Faso. 61
28292285 2017
47
Pattern of clefts and dental anomalies in six-year-old children: a retrospective observational study in western Norway. 61
27897086 2017
48
Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate. 61
28069795 2017
49
[The standard mid-pregnancy anomaly scan in the Netherlands: what is its effect?] 61
28659205 2017
50
Application of high resolution SNP arrays in patients with congenital oral clefts in south China. 61
27994178 2016

Variations for Isolated Cleft Lip

Expression for Isolated Cleft Lip

Search GEO for disease gene expression data for Isolated Cleft Lip.

Pathways for Isolated Cleft Lip

Pathways related to Isolated Cleft Lip according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.26 TP63 MSX1 IRF6
2 10.72 GSTT1 GSTM1
3 10.54 GSTT1 GSTM1
4 9.53 TP63 IRF6

GO Terms for Isolated Cleft Lip

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 TP63 TBX10 MSX1 IRF6 FOXE1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.65 TP63 IRF6 IGSF9 HEMGN FOXE1
2 odontogenesis of dentin-containing tooth GO:0042475 9.51 TP63 MSX1
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.5 NECTIN1 IGSF9 HMCN1
4 embryonic limb morphogenesis GO:0030326 9.49 TP63 MSX1
5 glutathione metabolic process GO:0006749 9.48 GSTT1 GSTM1
6 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.46 NECTIN1 HMCN1
7 embryonic forelimb morphogenesis GO:0035115 9.43 TP63 MSX1
8 embryonic hindlimb morphogenesis GO:0035116 9.4 TP63 MSX1
9 hair follicle morphogenesis GO:0031069 9.37 TP63 FOXE1
10 glutathione derivative biosynthetic process GO:1901687 9.16 GSTT1 GSTM1
11 roof of mouth development GO:0060021 9.13 MSX1 IRF6 FOXE1
12 cranial skeletal system development GO:1904888 8.8 TP63 IRF6 FOXE1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.56 TP63 TBX10 IRF6 FOXE1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 TP63 TBX10 MSX1 IRF6 FOXE1
3 glutathione transferase activity GO:0004364 8.96 GSTT1 GSTM1
4 sequence-specific DNA binding GO:0043565 8.92 TP63 MSX1 IRF6 FOXE1

Sources for Isolated Cleft Lip

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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