CPI
MCID: CLF027
MIFTS: 63

Cleft Palate, Isolated (CPI)

Categories: Ear diseases, Fetal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Cleft Palate, Isolated

MalaCards integrated aliases for Cleft Palate, Isolated:

Name: Cleft Palate, Isolated 57 38 71
Cleft Palate 57 11 58 75 28 53 5 43 14 71 31 33
Isolated Cleft Palate 11 28 5 14
Palatoschisis 11 33
Cpi 57 73
Cp 57 73
Congenital Fissure of Palate 33
Cleft of Secondary Palate 33
Cleft Palate Isolated 73
Uranostaphyloschisis 71

Characteristics:


Inheritance:

Cleft Palate, Isolated: Autosomal dominant 57
Cleft Palate: Multigenic/multifactorial 58

Prevelance:

Cleft Palate: 1-5/10000 (Europe, Europe, Austria, Austria, Belgium, Belgium, Croatia, Croatia, France, France, Germany, Germany, Ireland, Ireland, Italy, Italy, Netherlands, Netherlands, Poland, Poland, Portugal, Portugal, Spain, Spain, Switzerland, Switzerland, Ukraine, Ukraine, Chile, Sudan, Iran, Islamic Republic of, Mexico, Taiwan, Province of China) >1/1000 (Denmark, Denmark, Australia) 6-9/10000 (Hungary, Hungary, Malta, Malta, Norway, Norway, United Kingdom, United Kingdom, Specific population, Specific population) 1-9/100000 (Bolivia) 58

Age Of Onset:

Cleft Palate: Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0110213 DOID:674
OMIM® 57 119540
ICD9CM 34 749.0
MeSH 43 D002972
NCIt 49 C87069
SNOMED-CT 68 156940009
MESH via Orphanet 44 D002972
ICD10 via Orphanet 32 Q35.1 Q35.3 Q35.5 more
UMLS via Orphanet 72 C0008925
Orphanet 58 ORPHA2014
ICD11 33 2129534948
UMLS 71 C0008925 C1837218 C2981150

Summaries for Cleft Palate, Isolated

OMIM®: 57 Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570. (119540) (Updated 08-Dec-2022)

MalaCards based summary: Cleft Palate, Isolated, also known as cleft palate, is related to cleft lip and cleft soft palate, and has symptoms including seizures An important gene associated with Cleft Palate, Isolated is GRHL3 (Grainyhead Like Transcription Factor 3). The drugs Cathine and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and bone marrow, and related phenotypes are seizure and gingival overgrowth

Disease Ontology 11 Isolated cleft palate: A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate.

Cleft palate: An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.

UniProtKB/Swiss-Prot: 73 A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, intellectual disability, and osteoporosis.

Orphanet: 58 A fissure type embryopathy that affects the soft and hard palate to varying degrees.

Wikipedia: 75 A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on... more...

Related Diseases for Cleft Palate, Isolated

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

(show top 50) (show all 1129)
# Related Disease Score Top Affiliating Genes
1 cleft lip 33.4 SETD5 IRF6 GRHL3
2 cleft soft palate 32.8 IRF6 GRHL3 COL11A1
3 glass syndrome 32.7 SATB2 NIPBL IRF6
4 orofacial cleft 32.7 SATB2 NIPBL IRF6 GRHL3 FLNA COL11A1
5 kabuki syndrome 1 32.6 SMARCA4 NSD1 IRF6
6 ankyloblepharon-ectodermal defects-cleft lip/palate 32.6 IRF6 GRHL3
7 van der woude syndrome 1 32.5 IRF6 GRHL3
8 hyperphosphatasia-intellectual disability syndrome 32.2 PIGW PGAP3
9 cornelia de lange syndrome 2 32.2 SATB2 NIPBL
10 uvula, bifid 32.1 NSD1 GRHL3
11 microcephaly 31.8 SATB2 RAB3GAP1 PGAP3 NSD1 NIPBL INPP5E
12 atrial heart septal defect 31.3 SMARCA4 NSD1 NIPBL FLNA
13 macroglossia 31.3 NSD1 COL11A1
14 strabismus 31.2 TMCO1 GNB1 COL11A1 CHN1
15 cornelia de lange syndrome 1 31.0 WFS1 NSD1 NIPBL
16 duane retraction syndrome 1 31.0 WFS1 CHN1
17 diaphragmatic hernia, congenital 30.9 PIGW PGAP3 NIPBL
18 polymicrogyria 30.9 SETD5 RAB3GAP1 FLNA
19 talipes equinovarus 30.8 IRF6 INPP5E
20 patent ductus arteriosus 1 30.7 SMARCA4 NSD1 INPP5E FLNA
21 west syndrome 30.7 SETD5 PIGW GNB1 FLNA
22 chromosome 16p13.3 deletion syndrome, proximal 30.6 SMARCA4 NSD1 NIPBL
23 cryptorchidism, unilateral or bilateral 30.6 TMCO1 RAB3GAP1 NSD1 NIPBL
24 cleft palate with or without ankyloglossia, x-linked 11.8
25 syngnathia 11.7
26 cleft lip with or without cleft palate 11.7
27 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.7
28 microtia, hearing impairment, and cleft palate 11.7
29 arthrogryposis, distal, type 3 11.7
30 pierre robin syndrome 11.7
31 omphalocele-cleft palate syndrome, lethal 11.6
32 mandibulofacial dysostosis, guion-almeida type 11.6
33 cleft lip/palate 11.6
34 schilbach-rott syndrome 11.6
35 say syndrome 11.6
36 abruzzo-erickson syndrome 11.6
37 cleft palate short stature vertebral anomalies 11.6
38 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 11.6
39 cleft palate, proliferative retinopathy, and developmental delay 11.6
40 orofacial cleft 11 11.6
41 cleft palate, psychomotor retardation, and distinctive facial features 11.5
42 myopathy, congenital, bailey-bloch 11.5
43 orofacial cleft 6 11.5
44 aase-smith syndrome i 11.5
45 macrosomia with microphthalmia, lethal 11.5
46 dysmorphism cleft palate loose skin 11.5
47 parc syndrome 11.5
48 orofacial cleft 5 11.5
49 roberts-sc phocomelia syndrome 11.5
50 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.5

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



Diseases related to Cleft Palate, Isolated

Symptoms & Phenotypes for Cleft Palate, Isolated

Human phenotypes related to Cleft Palate, Isolated:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 HP:0001250
2 gingival overgrowth 30 HP:0000212
3 cleft palate 30 HP:0000175
4 micrognathia 30 HP:0000347
5 intellectual disability, profound 30 HP:0002187
6 anterior open-bite malocclusion 30 HP:0009102
7 increased overbite 30 HP:0011094

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Mouth:
cleft palate, isolated

Clinical features from OMIM®:

119540 (Updated 08-Dec-2022)

UMLS symptoms related to Cleft Palate, Isolated:


seizures

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 AMER1 CHN1 COL11A1 FLNA GNB1 GRHL3
2 nervous system MP:0003631 10.29 CHN1 COL11A1 FLNA GNB1 GRHL3 INPP5E
3 craniofacial MP:0005382 10.22 AMER1 COL11A1 FLNA GNB1 GRHL3 INPP5E
4 limbs/digits/tail MP:0005371 10.19 AMER1 COL11A1 GRHL3 INPP5E IRF6 NIPBL
5 cellular MP:0005384 10.18 AMER1 CHN1 FLNA GNB1 GRHL3 INPP5E
6 embryo MP:0005380 10.16 AMER1 GNB1 GRHL3 INPP5E IRF6 NIPBL
7 digestive/alimentary MP:0005381 10.13 COL11A1 FLNA GRHL3 INPP5E IRF6 LRRC32
8 behavior/neurological MP:0005386 10.1 CHN1 FLNA GNB1 GRHL3 LRRC32 NIPBL
9 immune system MP:0005387 10 AMER1 COL11A1 FLNA GRHL3 LRRC32 NIPBL
10 skeleton MP:0005390 9.93 AMER1 COL11A1 FLNA GNB1 GRHL3 INPP5E
11 vision/eye MP:0005391 9.61 CHN1 FLNA GNB1 GRHL3 INPP5E NIPBL
12 mortality/aging MP:0010768 9.55 AMER1 CHN1 COL11A1 FLNA GNB1 GRHL3

Drugs & Therapeutics for Cleft Palate, Isolated

Drugs for Cleft Palate, Isolated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
2
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
3
Codeine Approved, Illicit Phase 4 76-57-3, 6854-40-6 5284371 5362471
4
Tranexamic acid Approved Phase 4 1197-18-8 5526
5
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
6 Respiratory System Agents Phase 4
7 Antitussive Agents Phase 4
8 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
9 Antifibrinolytic Agents Phase 4
10 Anesthetics, Local Phase 4
11 Anesthetics Phase 4
12 Analgesics, Opioid Phase 4
13 Pharmaceutical Solutions Phase 4
14
Levobupivacaine Approved, Investigational Phase 2, Phase 3 27262-47-1 92253
15
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
16
Nalbuphine Approved Phase 3 20594-83-6 5311304
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
18 Folate Phase 3
19 Vitamin B9 Phase 3
20 Trace Elements Phase 3
21 Vitamin B Complex Phase 3
22 Hematinics Phase 3
23 Micronutrients Phase 3
24 Narcotics Phase 3
25
Acetylcholine Approved, Investigational Phase 1, Phase 2 51-84-3 187
26
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249
27
Sulbactam Approved Phase 2 68373-14-8 5316
28
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
29
Tannic acid Approved Phase 1, Phase 2 1401-55-4 16129878 16129778
30
Simvastatin Approved Phase 2 79902-63-9 54454
31
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 2 67-97-0, 1406-16-2 5280795 10883523
32 Antibiotics, Antitubercular Phase 2
33 Anti-Bacterial Agents Phase 2
34 Anti-Infective Agents Phase 2
35
abobotulinumtoxinA Phase 1, Phase 2
36 Botulinum Toxins, Type A Phase 1, Phase 2
37 Botulinum Toxins Phase 1, Phase 2
38 Cholinergic Agents Phase 1, Phase 2
39 beta-Lactamase Inhibitors Phase 2
40 Antimetabolites Phase 2
41 Hypolipidemic Agents Phase 2
42 Anticholesteremic Agents Phase 2
43 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
44 Lipid Regulating Agents Phase 2
45 Vitamins Phase 2
46 Calciferol Phase 2
47 Antioxidants Phase 2
48 Protective Agents Phase 2
49 Gastrointestinal Agents Phase 1, Phase 2
50
7-dehydrocholesterol Phase 1, Phase 2 434-16-2 439423

Interventional clinical trials:

(show top 50) (show all 106)
# Name Status NCT ID Phase Drugs
1 Double Blind Randomized Study Into the Efficacy of Codeine Phosphate Analgesia After Cleft Palate Repair in Infants Completed NCT00386269 Phase 4 Codeine Phosphate Analgesia
2 Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty : Randomized Study Completed NCT02422056 Phase 4 Tranexamic Acid;Saline
3 The Impact of Adding Ultrasound Guided Bilateral Suprazygomatic Maxillary Nerve Block to General Anesthesia on Systemic Inflammatory Response in Cleft Palate Surgeries ; A Randomized Control Trial Recruiting NCT05495750 Phase 4 Bupivacaine 0.25% Injectable Solution
4 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Withdrawn NCT02953145 Phase 4 Tisseel
5 A Randomized, Double-Blinded, Placebo Controlled Trial Using Single Dose Dexmedetomidine In The Treatment Of Pain In Patients Undergoing Cleft Palate Repair Withdrawn NCT02915042 Phase 4 Dexmedetomidine;Placebo
6 Comparative Study Between Levobupivacaine and Bupivacaine for Nerve Block During Pediatric Primary Cleft Palate Surgery Completed NCT02923869 Phase 2, Phase 3 Levobupivacaine;Bupivacaine
7 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
8 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
9 Optic Nerve Sheath Diameter (ONSD): A New Modality to Assess Postoperative Agitation After a Single Bolus of Dexmedetomidine Versus Nalbuphine in Children With Cleft Palate Repair Recruiting NCT04928391 Phase 3 Dexmedetomidine;Nalbuphine
10 Preemptive Nebulized Bupivacaine for Pain Control After Cleft Palate Repair in Children: A Randomized Double Blind Controlled Trial Recruiting NCT04928352 Phase 3 Bupivacaine Hydrochloride
11 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
12 Distraction Versus Orthognathic Surgery - Which One is Better for Cleft Palate Patients Completed NCT00930124 Phase 2
13 Evaluation of Postoperative Analgesic Effects of Bilateral Suprazygomatic Maxillary Nerve Block Using Bupivacaine and Dexmedetomidine in Children Undergoing Cleft Palate Repair Under General Anesthesia:Randomized Controlled Trial Completed NCT03412474 Phase 2 Bupivacaine;Dexmedetomidine;paracetamol
14 Botulinum Toxin to Improve Cosmesis of Primary Cleft Lip Repair Completed NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
15 Efficacy of Preoperative Prophylactic Antibiotics in Preventing Complications in the Primary Repair of Cleft Palates Completed NCT00760006 Phase 2 Unasyn
16 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
17 Velopharyngeal Function for Speech After Palatal Surgery Completed NCT00004639 Phase 2
18 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
19 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
20 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
21 Dose Use of Rigid Fixation After Removing the Distraction Device Reduce the Anterior-posterior Relapse or Not? Completed NCT02350803 Phase 2
22 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
23 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Active, not recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
24 A Prospective, Double-Blinded, Randomized Comparison of Intravenous Acetaminophen Versus Placebo in Children Undergoing Palatoplasty Withdrawn NCT01760330 Phase 2 IV acetaminophen;Placebo
25 Ketodex Versus Opioid Based Anaesthesia in Cleft Palate Repair Recruiting NCT05402189 Phase 1 Ketodex, Fentanyl
26 Evaluation of Postoperative Analgesic Effects of Infraorbital Nerve Block by Levobupivacaine vs Ropivacaine After Cleft Palate Surgery: A Double-blinded Randomized Trial Unknown status NCT04212611 INFRA ORBITAL BLOCK
27 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
28 Comparative Study of Bilateral Suprazygomatic Maxillary Nerve Block and Surgical Site Infiltration for Perioperative Analgesia in Children Undergoing Cleft Palate Repair Unknown status NCT03799068
29 The Effect of Adjunctive Use of Low Level Laser (LLL) After Surgical Correction of Isolated Cleft Palate Versus Surgical Correction Without LLL in Healing Process Unknown status NCT03688737
30 Evaluation of the Incidence of Palatal Fistula in Furlow Double-opposing Z-plasty vs. Two-flap Palatoplasty for Cleft Palate Repair Unknown status NCT03055637
31 Evaluation of Bone-borne Palatal Expander in Conjunction With Maxillary Osteotomy in the Treatment of Cleft Palate Patients Unknown status NCT03837652
32 Analgesic Contribution of the Suprazygomatic Maxillary Nerve Block for Cleft Palate Surgery in Children Unknown status NCT04023825 suprazygomatic maxillary nerve block
33 Comparing Two Peripheral Nerve Block Techniques for Perioperative Analgesia During Cleft Palate Surgery in Pediatric Patients: Randomized Controlled Trial Unknown status NCT04467463
34 Validation of a Production Method of Stem Cell Isolated From the Nasal Cavity for an Innovative Cell Therapy of Cleft Palate Unknown status NCT02900014
35 Assessment of Intellectual Abilities for Subjects With Velopharyngeal Incompetence and Their Impact on Speech Intelligibility Unknown status NCT03898713
36 Three-dimensional Development of the Palate in Bilateral Orofacial Cleft Newborns One Year After Early Neonatal Cheiloplasty: Classic and Geometric Morphometric Evaluation Unknown status NCT03839290
37 An Analysis of the Clinical Applicability of a Three-Dimensional Imaging Platform Used to Register the Influence of Orthognathic Surgery on Facial Hard and Soft Tissue in Patients With Congenital Maxillofacial Deformities. Unknown status NCT00285714
38 Partial Adenoidectomy in Cases of Velopharyngeal Dysfunction Unknown status NCT03469973
39 Device Assisted Exercises for Improving Soft Palate and Eustachian Tube Function in Children Between Ages 6-17 With or Without Cleft Palate and With Ventilation Tubes Completed NCT03868891
40 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
41 Educational Impact and Development of a Novel Cleft Palate Surgical Simulator: Improvement in Surgical Trainees' Knowledge and Confidence. Completed NCT04489680
42 The Possible Effect of Modified Restoration of Tensor Veli Palatini on Audiological and Otological Outcome in Cleft Palate Repair. Completed NCT04366674
43 Auditory Profile and Language Development in Children Operated for Cleft Palate Completed NCT04367961
44 The Effect of the Usage of Squeezable vs Standard Bottles on the Feeding Process of Infants With Cleft Lip and Palate (CLP) After Cleft Palate Surgery Completed NCT05062798
45 Otologic and Rhinologic Outcomes in Children With Cleft Palate at Age 10 Years Completed NCT03708406
46 Palatal Lengthening Using Buccinator Myomucosal Flaps With Furlow Z-plasty Technique for Primary Cleft Palate Repair (A Clinical Study) Completed NCT04346173
47 Evaluation of the Effect of Boyle-Davis Mouth Gape on Intracranial Pressure in Patients With Cleft Palate Repair by Measuring Optic Nerve Sheath Diameter Completed NCT04718558
48 Improving Outcomes in Cleft Palate Surgery Through an Audit and Feedback Intervention Directed at Surgeons Completed NCT02583100
49 Middle Ear Pressure Disregulation in Cleft Palate Patients: Form-Function Correlates Completed NCT00423072
50 Microscopic Surgical Repair of Cleft Palate With Inravelar Veloplasty Completed NCT05196555

Search NIH Clinical Center for Cleft Palate, Isolated

Cochrane evidence based reviews: cleft palate

Genetic Tests for Cleft Palate, Isolated

Genetic tests related to Cleft Palate, Isolated:

# Genetic test Affiliating Genes
1 Isolated Cleft Palate 28
2 Cleft Palate 28

Anatomical Context for Cleft Palate, Isolated

Organs/tissues related to Cleft Palate, Isolated:

MalaCards : Bone, Tongue, Bone Marrow, Heart, Pituitary, Olfactory Bulb, Brain

Publications for Cleft Palate, Isolated

Articles related to Cleft Palate, Isolated:

(show top 50) (show all 13025)
# Title Authors PMID Year
1
Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate--a Danish Registry study. 53 62 57
8554055 1996
2
Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. 53 62 57
7702037 1995
3
Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). 53 62 57
8105683 1993
4
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. 62 5
27018475 2016
5
Selection bias in genetic-epidemiological studies of cleft lip and palate. 62 57
1496993 1992
6
Segregation of HLA in families with oral clefts: evidence against linkage between isolated cleft palate and HLA. 62 57
6859128 1983
7
A family study of isolated cleft palate. 62 57
7143384 1982
8
Cleft palate: a genetic and epidemiologic investigation. 62 57
7296943 1981
9
Dominant inheritance of cleft of the soft palate. 62 57
7372339 1980
10
Facial clefts in Danish twins. 62 57
282023 1979
11
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 57
10742093 2000
12
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. 53 62
20424327 2010
13
p63 and IRF6: brothers in arms against cleft palate. 53 62
20424318 2010
14
MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. 53 62
20082468 2010
15
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. 53 62
20101701 2010
16
Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility. 53 62
19914800 2010
17
Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. 53 62
19891592 2010
18
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. 53 62
20121942 2009
19
Czech dysplasia occurring in a Japanese family. 53 62
19764028 2009
20
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. 53 62
19444471 2009
21
Cleft palate in Pfeiffer syndrome. 53 62
19816260 2009
22
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 53 62
19542084 2009
23
Tbx22 expressions during palatal development in fetuses with glucocorticoid-/alcohol-induced C57BL/6N cleft palates. 53 62
19816249 2009
24
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. 53 62
19536891 2009
25
Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population. 53 62
19727229 2009
26
[No association of the A2756G polymorphism of methionine synthase gene with nonsyndromic cleft lip with or without cleft palate]. 53 62
19504454 2009
27
Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. 53 62
19388848 2009
28
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. 53 62
19320731 2009
29
Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. 53 62
18771417 2008
30
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia. 53 62
18956930 2008
31
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. 53 62
18688869 2008
32
Czech dysplasia: report of a large family and further delineation of the phenotype. 53 62
18553548 2008
33
Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate. 53 62
18356023 2008
34
Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts. 53 62
18161794 2008
35
[Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. 53 62
18705505 2008
36
Association of the GABRB3 gene with nonsyndromic oral clefts. 53 62
18452349 2008
37
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. 53 62
17868388 2007
38
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. 53 62
17551083 2007
39
[Association of transforming growth factor-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate in Han nationality]. 53 62
17629209 2007
40
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. 53 62
17431894 2007
41
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 53 62
17438386 2007
42
In vitro manipulation of cleft palate connective tissue: setting the bases of a proposed new treatment. 53 62
17173932 2007
43
[Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility]. 53 62
17456381 2007
44
Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. 53 62
17219389 2007
45
[Relationship between transforming growth factor-alpha gene polymorphism and non-syndromic cleft lip with cleft palate]. 53 62
17334078 2006
46
[Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate]. 53 62
17313741 2006
47
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. 53 62
16882747 2006
48
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 53 62
16764984 2006
49
A mutation of the p63 gene in non-syndromic cleft lip. 53 62
16740912 2006
50
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 53 62
16674562 2006

Variations for Cleft Palate, Isolated

ClinVar genetic disease variations for Cleft Palate, Isolated:

5 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) SNV Pathogenic
3417 rs28942094 GRCh37: 1:209974743-209974743
GRCh38: 1:209801398-209801398
2 SATB2 NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs) MICROSAT Pathogenic
523423 rs1553544133 GRCh37: 2:200173568-200173569
GRCh38: 2:199308845-199308846
3 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) DEL Pathogenic
523556 rs1554034812 GRCh37: 5:37059040-37059040
GRCh38: 5:37058938-37058938
4 AMER1 NM_152424.4(AMER1):c.1489del (p.Arg497fs) DEL Pathogenic
817301 rs1602067592 GRCh37: X:63411678-63411678
GRCh38: X:64191798-64191798
5 SHANK1 NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter) SNV Pathogenic
1684507 GRCh37: 19:51192124-51192124
GRCh38: 19:50688867-50688867
6 SETD5 NM_001080517.3(SETD5):c.2168dup (p.Leu723fs) DUP Pathogenic
981664 rs2042262374 GRCh37: 3:9490133-9490134
GRCh38: 3:9448449-9448450
7 PGAP3 NM_033419.5(PGAP3):c.851A>G (p.His284Arg) SNV Pathogenic
599004 rs776720232 GRCh37: 17:37829352-37829352
GRCh38: 17:39673099-39673099
8 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic
208722 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
9 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic
598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
10 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic
598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
11 FLNA NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) SNV Pathogenic
11755 rs28935469 GRCh37: X:153596212-153596212
GRCh38: X:154367844-154367844
12 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) SNV Pathogenic
522269 rs1553547838 GRCh37: 2:200193432-200193432
GRCh38: 2:199328709-199328709
13 GRHL3 NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) SNV Pathogenic
697696 rs34593559 GRCh37: 1:24664239-24664239
GRCh38: 1:24337749-24337749
14 GRHL3 NM_198173.3(GRHL3):c.1172G>A (p.Arg391His) SNV Pathogenic
1172586 GRCh37: 1:24668729-24668729
GRCh38: 1:24342239-24342239
15 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) SNV Pathogenic
400 rs121918130 GRCh37: 9:139327634-139327634
GRCh38: 9:136433182-136433182
16 NSD1 NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic
159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
17 SATB2 NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) SNV Pathogenic
2519 rs137853127 GRCh37: 2:200213882-200213882
GRCh38: 2:199349159-199349159
18 RAB3GAP1 NM_012233.3(RAB3GAP1):c.151-5T>G SNV Pathogenic
996741 rs1690127143 GRCh37: 2:135848563-135848563
GRCh38: 2:135090993-135090993
19 GRHL3 NM_198173.3(GRHL3):c.1285+2del DEL Pathogenic
219246 rs886037770 GRCh37: 1:24669264-24669264
GRCh38: 1:24342774-24342774
20 GRHL3 NM_198173.3(GRHL3):c.916dup (p.Arg306fs) DUP Pathogenic
219245 rs886037769 GRCh37: 1:24664554-24664555
GRCh38: 1:24338064-24338065
21 GRHL3 NM_198173.3(GRHL3):c.840+1G>T SNV Pathogenic
219244 rs886037768 GRCh37: 1:24664280-24664280
GRCh38: 1:24337790-24337790
22 GRHL3 NM_198173.3(GRHL3):c.738C>T (p.Gly246=) SNV Pathogenic
219243 rs886037767 GRCh37: 1:24664177-24664177
GRCh38: 1:24337687-24337687
23 FGF14 NM_004115.4(FGF14):c.486dup (p.Arg163fs) DUP Likely Pathogenic
598976 rs1566823361 GRCh37: 13:102379082-102379083
GRCh38: 13:101726732-101726733
24 TMCO1 NM_019026.6(TMCO1):c.493_494del (p.Ala165fs) DEL Likely Pathogenic
598949 rs1558027212 GRCh37: 1:165697333-165697334
GRCh38: 1:165728096-165728097
25 GRHL3 NM_198173.3(GRHL3):c.22A>G (p.Arg8Gly) SNV Likely Pathogenic
1172584 GRCh37: 1:24657920-24657920
GRCh38: 1:24331430-24331430
26 GRHL3 NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln) SNV Likely Pathogenic
1172585 GRCh37: 1:24657930-24657930
GRCh38: 1:24331440-24331440
27 MYO19, PIGW NM_001346754.2(PIGW):c.617_620del (p.Val206fs) DEL Likely Pathogenic
377301 rs753385776 GRCh37: 17:34893565-34893568
GRCh38: 17:36537716-36537719
28 LRRC32 NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter) SNV Likely Pathogenic
545640 rs369867819 GRCh37: 11:76371007-76371007
GRCh38: 11:76659963-76659963
29 SMARCA4 NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln) SNV Likely Pathogenic
212246 GRCh37: 19:11134270-11134270
GRCh38: 19:11023594-11023594
30 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely Pathogenic
598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
31 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) DEL Likely Pathogenic
523552 rs1553200431 GRCh37: 1:103377736-103377753
GRCh38: 1:102912180-102912197
32 NFIA NM_001134673.4(NFIA):c.905del (p.Gly302fs) DEL Likely Pathogenic
374230 rs1057518992 GRCh37: 1:61824904-61824904
GRCh38: 1:61359232-61359232
33 TBX22 NM_001109878.2(TBX22):c.448A>C (p.Lys150Gln) SNV Uncertain Significance
523404 rs1156605251 GRCh37: X:79279653-79279653
GRCh38: X:80024154-80024154
34 KIF1A NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain Significance
598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247
35 ARHGAP29 NM_004815.4(ARHGAP29):c.1865C>T (p.Thr622Met) SNV Uncertain Significance
1338788 GRCh37: 1:94650953-94650953
GRCh38: 1:94185397-94185397
36 DEPDC5 NM_001242896.3(DEPDC5):c.2785G>A (p.Gly929Ser) SNV Uncertain Significance
599003 rs1569084151 GRCh37: 22:32239782-32239782
GRCh38: 22:31843796-31843796
37 PDGFRA NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp) SNV Uncertain Significance
39616 rs397514549 GRCh37: 4:55136880-55136880
GRCh38: 4:54270713-54270713
38 PDGFRA NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala) SNV Uncertain Significance
39617 rs181854060 GRCh37: 4:55140770-55140770
GRCh38: 4:54274603-54274603
39 PDGFRA NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met) SNV Uncertain Significance
39618 rs397514550 GRCh37: 4:55161324-55161324
GRCh38: 4:54295157-54295157
40 DNAH11 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) SNV Uncertain Significance
198347 rs370932895 GRCh37: 7:21856224-21856224
GRCh38: 7:21816606-21816606
41 FANCD2, FANCD2OS NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) DEL Uncertain Significance
342380 rs766605179 GRCh37: 3:10140448-10140453
GRCh38: 3:10098764-10098769
42 CPLANE1 NM_001384732.1(CPLANE1):c.356A>G (p.Tyr119Cys) SNV Uncertain Significance
1435621 GRCh37: 5:37244691-37244691
GRCh38: 5:37244589-37244589
43 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) SNV Uncertain Significance
167818 rs142594314 GRCh37: 1:116206600-116206600
GRCh38: 1:115663979-115663979
44 TNFRSF13B NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV Uncertain Significance
5302 rs34557412 GRCh37: 17:16852187-16852187
GRCh38: 17:16948873-16948873
45 NDC1 NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr) SNV Uncertain Significance
619169 rs1570193658 GRCh37: 1:54266482-54266482
GRCh38: 1:53800809-53800809
46 INPP1 NM_001128928.2(INPP1):c.70del (p.Gln24fs) DEL Uncertain Significance
619168 rs1575788223 GRCh37: 2:191224898-191224898
GRCh38: 2:190360172-190360172
47 SOX3 NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) DUP Uncertain Significance
95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
48 TENM4 NM_001098816.3(TENM4):c.1556G>A (p.Gly519Glu) SNV Likely Benign
619134 rs1591072819 GRCh37: 11:78565274-78565274
GRCh38: 11:78854229-78854229
49 NEK9 NM_033116.6(NEK9):c.1505A>G (p.Tyr502Cys) SNV Likely Benign
619170 rs534245464 GRCh37: 14:75573228-75573228
GRCh38: 14:75106525-75106525
50 MYO15A NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) SNV Likely Benign
195313 rs200532919 GRCh37: 17:18023568-18023568
GRCh38: 17:18120254-18120254

Copy number variations for Cleft Palate, Isolated from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 43412 10 46400346 51237832 Deletion cleft palate
2 161497 22 19062809 19791607 Deletion cleft palate
3 161606 22 19412033 19790830 Duplication cleft palate

Expression for Cleft Palate, Isolated

Search GEO for disease gene expression data for Cleft Palate, Isolated.

Pathways for Cleft Palate, Isolated

GO Terms for Cleft Palate, Isolated

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

# Name GO ID Score Top Affiliating Genes
1 ER overload response GO:0006983 9.56 WFS1 TMCO1
2 olfactory behavior GO:0042048 9.46 WFS1 SHANK1
3 heart morphogenesis GO:0003007 9.35 NIPBL FLNA COL11A1
4 GPI anchor metabolic process GO:0006505 8.92 PIGW PGAP3

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

# Name GO ID Score Top Affiliating Genes
1 histone H3K36 methyltransferase activity GO:0046975 8.92 SETD5 NSD1

Sources for Cleft Palate, Isolated

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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