MCID: ISL109
MIFTS: 29

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 59

Classifications:



External Ids:

Orphanet 59 ORPHA199302
UMLS via Orphanet 74 C0008924
ICD10 via Orphanet 34 Q36.0 Q36.1 Q36.9

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 pituitary and thyroid, and related phenotypes are craniofacial and digestive/alimentary

Related Diseases for Isolated Cleft Lip

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cleft lip 28.2 IRF6 MSX1 NECTIN1 TBX10 TP63
2 cleft lip/palate 27.8 FOXE1 IRF6 MSX1 NECTIN1 TP63
3 cleft palate, isolated 26.8 FOXE1 IRF6 MSX1 NECTIN1 TP63 TRMO
4 orofacial cleft 26.0 FOXE1 GSTT1 IRF6 MSX1 NECTIN1 TBX10
5 hearing loss, noise-induced 10.4 GSTM1 GSTT1
6 sister chromatid exchange, frequency of 10.4 GSTM1 GSTT1
7 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.4 IRF6 TP63
8 drug-induced hepatitis 10.4 GSTM1 GSTT1
9 leukoplakia 10.4 GSTM1 GSTT1
10 mutagen sensitivity 10.4 GSTM1 GSTT1
11 arteritic anterior ischemic optic neuropathy 10.4 GSTM1 GSTT1
12 senile cataract 10.3 GSTM1 GSTT1
13 diffuse gastric cancer 10.3 GSTM1 GSTT1
14 asbestosis 10.3 GSTM1 GSTT1
15 oligospermia 10.3 GSTM1 GSTT1
16 xeroderma pigmentosum, complementation group d 10.2 GSTM1 GSTT1
17 ischemic optic neuropathy 10.2 GSTM1 GSTT1
18 oral submucous fibrosis 10.2 GSTM1 GSTT1
19 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.2 FOXE1 MSX1
20 varicocele 10.1 GSTM1 GSTT1
21 toxic encephalopathy 10.1 GSTM1 GSTT1
22 oral cancer 10.0 GSTM1 GSTT1
23 hypohidrosis 10.0 MSX1 TP63
24 apnea, obstructive sleep 9.8
25 aging 9.8
26 sleep apnea 9.8
27 hypothyroidism 9.8
28 aggressive periodontitis 9.8
29 thyroid cancer 9.8
30 cerebritis 9.8
31 thyroiditis 9.8
32 periodontitis 9.8
33 cleft lip/palate-ectodermal dysplasia syndrome 9.7 NECTIN1 TP63
34 squamous cell carcinoma, head and neck 9.7 GSTM1 GSTT1 TP63
35 physical disorder 9.7 IRF6 MSX1
36 oral cavity cancer 9.7 GSTM1 GSTT1
37 basal cell carcinoma 9.4 FOXE1 GSTM1 GSTT1 TP63
38 cleft lip and alveolus 8.7 IRF6 MSX1 NECTIN1 TP63

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



Diseases related to Isolated Cleft Lip

Symptoms & Phenotypes for Isolated Cleft Lip

MGI Mouse Phenotypes related to Isolated Cleft Lip:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 FOXE1 IRF6 MSX1 NECTIN1 TBX10 TP63
2 digestive/alimentary MP:0005381 9.55 FOXE1 IRF6 MSX1 TBX10 TP63
3 hearing/vestibular/ear MP:0005377 9.26 HEMGN IRF6 MSX1 TBX10
4 integument MP:0010771 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:

41
Pituitary, Thyroid

Publications for Isolated Cleft Lip

Articles related to Isolated Cleft Lip:

(show all 27)
# Title Authors Year
1
Rethinking isolated cleft lip and palate as a syndrome. ( 29500156 )
2018
2
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 <i>ESRRG</i>. ( 29535761 )
2018
3
Isolated Cleft Lip and Palate: Maxillary Gap Sign and Palatino-Maxillary Diameter at 11-13 Weeks. ( 29073631 )
2017
4
The detection of areas in Poland with an increased prevalence of isolated cleft lip with or without cleft palate. ( 25780839 )
2015
5
Ear Infection in Isolated Cleft Lip: Etiological Implications. ( 26153759 )
2015
6
Isolated cleft lip with generalized aggressive periodontitis: A rare entity. ( 25810600 )
2015
7
High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate. ( 25613075 )
2015
8
Parental age and the risk of isolated cleft lip: a registry-based study. ( 26092647 )
2015
9
A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1. ( 25652407 )
2015
10
Incidence of positive screening for obstructive sleep apnea in patients with isolated cleft lip and/or palate. ( 25535465 )
2014
11
Spatial and temporal clustering of isolated cleft lip with or without cleft palate in Poland. ( 24559046 )
2014
12
Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/a89 palate. ( 24625434 )
2014
13
A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk. ( 24528994 )
2014
14
Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate? ( 23355017 )
2013
15
Social motivation in individuals with isolated cleft lip and palate. ( 23634967 )
2013
16
Height, BMI, and pituitary volume in individuals with and without isolated cleft lip and/or palate. ( 22322386 )
2012
17
Risk of cancer in relatives of children born with isolated cleft lip and palate. ( 22585460 )
2012
18
Growth trajectory of children and adolescents with isolated cleft lip and/or palate through the first two decades of life. ( 22832665 )
2012
19
Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia. ( 21319277 )
2011
20
Is an isolated cleft lip an isolated anomaly? ( 21146482 )
2011
21
Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate. ( 20583164 )
2010
22
Fetoscopic imaging of isolated cleft lip. ( 22778376 )
2010
23
Evaluation of growth in patients with isolated cleft lip and/or cleft palate. ( 20142284 )
2010
24
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. ( 19779022 )
2009
25
[Genetic polymorphisms of GSTM1 and GSTT1 in mothers of children with isolated cleft lip with or without cleft palate]. ( 16521944 )
2005
26
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. ( 16132054 )
2005
27
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. ( 15317890 )
2004

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 IRF6 MSX1 TP63
2 10.72 GSTM1 GSTT1
3 10.54 GSTM1 GSTT1
4 9.53 IRF6 TP63

GO Terms for Isolated Cleft Lip

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

# Name GO ID Score Top Affiliating Genes
1 odontogenesis of dentin-containing tooth GO:0042475 9.46 MSX1 TP63
2 embryonic limb morphogenesis GO:0030326 9.43 MSX1 TP63
3 glutathione metabolic process GO:0006749 9.4 GSTM1 GSTT1
4 embryonic forelimb morphogenesis GO:0035115 9.37 MSX1 TP63
5 embryonic hindlimb morphogenesis GO:0035116 9.32 MSX1 TP63
6 hair follicle morphogenesis GO:0031069 9.26 FOXE1 TP63
7 glutathione derivative biosynthetic process GO:1901687 9.16 GSTM1 GSTT1
8 keratinocyte proliferation GO:0043616 8.96 IRF6 TP63
9 cranial skeletal system development GO:1904888 8.62 FOXE1 TP63

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.55 FOXE1 IRF6 MSX1 TBX10 TP63
2 p53 binding GO:0002039 9.26 MSX1 TP63
3 sequence-specific DNA binding GO:0043565 9.26 FOXE1 IRF6 MSX1 TP63
4 glutathione transferase activity GO:0004364 8.62 GSTM1 GSTT1

Sources for Isolated Cleft Lip

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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