CPI
MCID: CLF027
MIFTS: 67

Cleft Palate, Isolated (CPI)

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cleft Palate, Isolated

MalaCards integrated aliases for Cleft Palate, Isolated:

Name: Cleft Palate, Isolated 57 29 6 40 72
Cleft Palate 57 12 75 59 29 55 6 44 15 72 33
Isolated Cleft Palate 12 15
Cpi 57 74
Cp 57 74
Cleft Palate Isolated with Mental Retardation 74
Cleft Palate Isolated 74
Uranostaphyloschisis 72
Cleft Palate; Cp 57
Palatoschisis 12

Characteristics:

Orphanet epidemiological data:

59
cleft palate
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),>1/1000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),6-9/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),6-9/10000 (Malta),1-5/10000 (Netherlands),6-9/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),6-9/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cleft palate, isolated:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110213 DOID:674
OMIM 57 119540
ICD9CM 35 749.0 749.00
MeSH 44 D002972
NCIt 50 C87069
SNOMED-CT 68 87979003
MESH via Orphanet 45 D002972
ICD10 via Orphanet 34 Q35.1 Q35.3 Q35.5 more
UMLS via Orphanet 73 C0008925
Orphanet 59 ORPHA2014
UMLS 72 C0008925 C1837218 C2981150

Summaries for Cleft Palate, Isolated

UniProtKB/Swiss-Prot : 74 Cleft palate isolated: 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, mental retardation, and osteoporosis.

MalaCards based summary : Cleft Palate, Isolated, also known as cleft palate, is related to cleft palate with or without ankyloglossia, x-linked and hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate, and has symptoms including seizures An important gene associated with Cleft Palate, Isolated is SATB2 (SATB Homeobox 2), 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 Guaifenesin and Codeine have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and heart, and related phenotypes are cleft palate and non-midline cleft lip

Disease Ontology : 12 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.

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)

Wikipedia : 75 Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft... 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 1149)
# Related Disease Score Top Affiliating Genes
1 cleft palate with or without ankyloglossia, x-linked 35.4 TBX22 MSX1 BMP4
2 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 35.3 TGFB3 MSX1 FOXE1
3 syngnathia 34.7 SATB2 MSX1 IRF6 BMP4
4 cleft lip/palate 34.5 TBX22 NECTIN1 MTHFR MSX1 IRF6 FOXE1
5 abruzzo-erickson syndrome 34.2 TCOF1 TBX22
6 cleft lip 33.8 TGFB3 NECTIN1 MTHFR MSX1 IRF6 BMP4
7 orofacial cleft 33.5 SATB2 NECTIN1 MSX1 IRF6 FOXE1 BMP4
8 isolated cleft lip 33.2 NECTIN1 MSX1 IRF6 FOXE1
9 cleft lip and alveolus 33.1 NECTIN1 MSX1 IRF6
10 tooth agenesis 31.7 TGFB3 SATB2 MSX1 IRF6 BMP4
11 tooth size 31.3 MSX1 BMP4
12 choanal atresia, posterior 31.2 SATB2 FOXE1
13 sc phocomelia syndrome 30.9 SATB2 NIPBL
14 macrocephaly/megalencephaly syndrome, autosomal recessive 30.9 SATB2 NSD1
15 omphalocele-cleft palate syndrome, lethal 12.7
16 microtia, hearing impairment, and cleft palate 12.7
17 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.7
18 cleft palate, cardiac defects, and mental retardation 12.7
19 cleft lip with or without cleft palate 12.6
20 hydrocephalus-cleft palate-joint contractures syndrome 12.6
21 cleft palate, psychomotor retardation, and distinctive facial features 12.6
22 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.6
23 submucosal cleft palate 12.5
24 cleft palate x-linked 12.5
25 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.5
26 ankyloblepharon filiforme adnatum and cleft palate 12.5
27 cleft palate short stature vertebral anomalies 12.5
28 palant cleft palate syndrome 12.5
29 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.5
30 mesomelic dwarfism cleft palate camptodactyly 12.4
31 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.4
32 syngnathia cleft palate 12.4
33 dominant cleft palate 12.4
34 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.4
35 acromegaloid features, overgrowth, cleft palate, and hernia 12.4
36 mandibulofacial dysostosis, guion-almeida type 12.3
37 ectrodactyly-cleft palate syndrome 12.3
38 cleft palate, deafness, and oligodontia 12.3
39 dysmorphism cleft palate loose skin 12.3
40 myopathy, congenital, bailey-bloch 12.3
41 schilbach-rott syndrome 12.2
42 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 12.2
43 anophthalmia cleft palate micrognathia 12.2
44 cleft palate colobomata radial synostosis deafness 12.2
45 cleft palate heart disease polydactyly absent tibia 12.2
46 cleft palate stapes fixation oligodontia 12.2
47 cleft palate, cardiac defects, and intellectual disability 12.2
48 craniosynostosis arthrogryposis cleft palate 12.2
49 microcephaly-cleft palate-abnormal retinal pigmentation syndrome 12.2
50 obsolete: blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 12.2

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
2 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
3 seizures 32 HP:0001250
4 gingival overgrowth 32 HP:0000212
5 micrognathia 32 HP:0000347
6 intellectual disability, profound 32 HP:0002187
7 anterior open-bite malocclusion 32 HP:0009102
8 overbite 32 HP:0011094

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate, isolated

Clinical features from OMIM:

119540

UMLS symptoms related to Cleft Palate, Isolated:


seizures

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 BMP4 FLNA FOXE1 GABRB3 INPP5E IRF6
2 craniofacial MP:0005382 10.37 BMP4 FLNA FOXE1 GABRB3 INPP5E IRF6
3 mortality/aging MP:0010768 10.32 BMP4 FLNA FOXE1 GABRB3 GNB1 INPP5E
4 behavior/neurological MP:0005386 10.3 BMP4 FLNA GABRB3 GNB1 LHX8 MSX1
5 digestive/alimentary MP:0005381 10.29 BMP4 FLNA FOXE1 GABRB3 INPP5E IRF6
6 cellular MP:0005384 10.25 BMP4 FLNA GNB1 INPP5E IRF6 LHX8
7 embryo MP:0005380 10.16 BMP4 GNB1 INPP5E IRF6 MSX1 NIPBL
8 nervous system MP:0003631 10.03 BMP4 FLNA GABRB3 GNB1 INPP5E LHX8
9 limbs/digits/tail MP:0005371 10.02 BMP4 INPP5E IRF6 MSX1 MTHFR NIPBL
10 hearing/vestibular/ear MP:0005377 9.88 BMP4 GABRB3 IRF6 MSX1 NIPBL TCOF1
11 skeleton MP:0005390 9.8 BMP4 FLNA GABRB3 INPP5E IRF6 MSX1
12 respiratory system MP:0005388 9.76 BMP4 FLNA GNB1 MSX1 SATB2 TBX22
13 vision/eye MP:0005391 9.28 BMP4 FLNA INPP5E MSX1 MTHFR NECTIN1

Drugs & Therapeutics for Cleft Palate, Isolated

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
2
Codeine Approved, Illicit Phase 4 76-57-3 5284371
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4 Narcotics Phase 4
5 Respiratory System Agents Phase 4
6 Analgesics, Opioid Phase 4
7 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
8 Antitussive Agents Phase 4
9 Antifibrinolytic Agents Phase 4
10 Hemostatics Phase 4
11 Coagulants Phase 4
12 Fibrin Tissue Adhesive Phase 4
13
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
14
leucovorin Approved Phase 3 58-05-9 143 6006
15
Levobupivacaine Approved, Investigational Phase 2, Phase 3 27262-47-1 92253
16
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
18 Anti-Inflammatory Agents Phase 3
19 Micronutrients Phase 3
20 Hematinics Phase 3
21 Trace Elements Phase 3
22 Folate Phase 3
23 Vitamins Phase 3
24 Vitamin B9 Phase 3
25 Vitamin B Complex Phase 3
26 Nutrients Phase 3
27 Cyclooxygenase Inhibitors Phase 3
28 Ketorolac Tromethamine Phase 3
29 Anti-Inflammatory Agents, Non-Steroidal Phase 3
30 Antirheumatic Agents Phase 3
31
Simvastatin Approved Phase 2 79902-63-9 54454
32
Sultamicillin Approved, Investigational Phase 2 76497-13-7
33
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249
34
Sulbactam Approved Phase 2 68373-14-8
35
Acetylcholine Approved, Investigational Phase 1, Phase 2 51-84-3 187
36
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
37 Antitubercular Agents Phase 2
38 Antibiotics, Antitubercular Phase 2
39 Anti-Infective Agents Phase 2
40 Anti-Bacterial Agents Phase 2
41 Lipid Regulating Agents Phase 2
42 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
43 Hypolipidemic Agents Phase 2
44 Antimetabolites Phase 2
45 Anticholesteremic Agents Phase 2
46 beta-Lactamase Inhibitors Phase 2
47 Neuromuscular Agents Phase 1, Phase 2
48 Cholinergic Agents Phase 1, Phase 2
49 abobotulinumtoxinA Phase 1, Phase 2
50 Acetylcholine Release Inhibitors Phase 1, Phase 2

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 Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4 Tisseel
4 Correlation of Nasal Volume and Cross-Sectional Area With Nasalance Scores as Measured by Acoustic Rhinometry and Nasometry Terminated NCT00147940 Phase 4
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 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
7 Comparative Study Between Levobupivacaine and Bupivacaine for Nerve Block During Pediatric Primary Cleft Palate Surgery Completed NCT02923869 Phase 2, Phase 3 Levobupivacaine;Bupivacaine
8 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
9 The Effectiveness of Bupivicaine Infusion Versus Intravenous Ketorolac for Postoperative Analgesia After Iliac Crest Bone Harvesting for Lefort I Osteotomy or Alveolar Cleft Repair. Completed NCT00405262 Phase 3 Ketorolac;Bupivacaine;ketorolac + bupivacaine
10 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
11 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
12 Distraction Versus Orthognathic Surgery - Which One is Better for Cleft Palate Patients Completed NCT00930124 Phase 2
13 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
14 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
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 Dose Use of Rigid Fixation After Removing the Distraction Device Reduce the Anterior-posterior Relapse or Not? Completed NCT02350803 Phase 2
19 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
20 Botulinum Toxin to Improve Cosmesis of Primary Cleft Lip Repair Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
21 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
22 Safety, Pharmacokinetics (PK) and Hemodynamic Effects of Ambrisentan in Single Ventricle Pediatric Patients Active, not recruiting NCT02080637 Phase 2 Ambrisentan
23 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet 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 An Investigation for the Optimal Timing of a Cleft Palate Repair Unknown status NCT00779961 Early Phase 1
26 Improving Outcomes in Cleft Palate Surgery Through an Audit and Feedback Intervention Directed at Surgeons Unknown status NCT02583100
27 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
28 Validation of a Production Method of Stem Cell Isolated From the Nasal Cavity for an Innovative Cell Therapy of Cleft Palate Unknown status NCT02900014
29 Evaluation of the Incidence of Palatal Fistula in Furlow Double-opposing Z-plasty vs. Two-flap Palatoplasty for Cleft Palate Repair Unknown status NCT03055637
30 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
31 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
32 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234
33 Quantification, Analysis and Simulation of Facial Mimics Movements Unknown status NCT02002572
34 Influence of Medical Clowning in Videofluoroscopic Examination of Pediatric Speech Disorder Unknown status NCT02701322
35 Middle Ear Pressure Disregulation in Cleft Palate Patients: Form-Function Correlates Completed NCT00423072
36 Sleep and Neurobehavioral Performance After Cleft Palate Repair Completed NCT01046591
37 Retrospective Study on the Outcome of Cleft Palate Repair: Comparing US Surgical and Ethicon Suture Materials Completed NCT00584272
38 Does Acellular Dermal Matrix Reduce Fistula Rate in Primary Palatoplasty Completed NCT01867632
39 Effect of Neck Extension on Optic Nerve Sheath Diameter in Patients Undergoing Palatoplasty Completed NCT03585608
40 Exercise Of Semi-Occluded Vocal Tract In Velopharyngeal Dysfunction In Patients With Cleft Palate : Effects Of Short-Term Completed NCT03966482
41 Using of Acellular Dermal Matrix in Cleft Palatal Fistula and Compare With Use of Conchal Cartolage Completed NCT03170505
42 Tympanometric Analysis in Post Surgical Individuals With Cleft Palate Completed NCT01820689
43 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
44 Emergence Delirium and Recovery Profile in Patients Undergoing Cleft Lip and Palate Repair: Comparison of Combination of Morphine and Fentanyl With Fentanyl Alone Completed NCT03010540 MORPHINE PLUS FENTANYL;Fentanyl
45 Relational Development in Children With Cleft Lips and Palates: Influence of the Waiting Period Prior to the First Surgical Intervention and the Parents' Psychological Perception of the Abnormality Completed NCT00993993
46 Analgesic Efficacy of Oral Versus Intravenous Acetaminophen for Primary Pediatric Cleft Palate Repair; a Randomized, Double, Blinded, Placebo Controlled Study Completed NCT01500109 Oral acetaminophen;Ofirmev®;Opioid only
47 Risk Association of Orofacial Cleft and Glucocorticoids Exposure During Pregnancy: a Meta-analysis Completed NCT03788863 Diflucortolone valerate (BAY866146)
48 Ultrasound Diagnosis of Cleft Lip and Palate - FENCHU Completed NCT03582111
49 Articulatory and Phonological Competence at 3 and 5 Years of Age in Children With Unilateral Cleft Lip and Palate Who Have Undergone Different Methods of Primary Palatal Surgery Completed NCT00829101
50 Systematic Pediatric Care for Oral Clefts - South America Completed NCT00097149

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 Cleft Palate, Isolated 29
2 Cleft Palate 29

Anatomical Context for Cleft Palate, Isolated

MalaCards organs/tissues related to Cleft Palate, Isolated:

41
Bone, Tongue, Heart, Testes, Skin, Brain, Pituitary

Publications for Cleft Palate, Isolated

Articles related to Cleft Palate, Isolated:

(show top 50) (show all 11505)
# Title Authors PMID Year
1
Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate--a Danish Registry study. 9 38 8
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. 9 38 8
7702037 1995
3
Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). 9 38 8
8105683 1993
4
PDGFRa mutations in humans with isolated cleft palate. 38 71
22473090 2012
5
Selection bias in genetic-epidemiological studies of cleft lip and palate. 38 8
1496993 1992
6
Segregation of HLA in families with oral clefts: evidence against linkage between isolated cleft palate and HLA. 38 8
6859128 1983
7
A family study of isolated cleft palate. 38 8
7143384 1982
8
Cleft palate: a genetic and epidemiologic investigation. 38 8
7296943 1981
9
Dominant inheritance of cleft of the soft palate. 38 8
7372339 1980
10
Facial clefts in Danish twins. 38 8
282023 1979
11
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 8
10742093 2000
12
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. 9 38
20424327 2010
13
p63 and IRF6: brothers in arms against cleft palate. 9 38
20424318 2010
14
MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. 9 38
20082468 2010
15
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. 9 38
20101701 2010
16
Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility. 9 38
19914800 2010
17
Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. 9 38
19891592 2010
18
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. 9 38
20121942 2009
19
Czech dysplasia occurring in a Japanese family. 9 38
19764028 2009
20
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 9 38
19542084 2009
21
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. 9 38
19444471 2009
22
Cleft palate in Pfeiffer syndrome. 9 38
19816260 2009
23
Tbx22 expressions during palatal development in fetuses with glucocorticoid-/alcohol-induced C57BL/6N cleft palates. 9 38
19816249 2009
24
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. 9 38
19536891 2009
25
Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population. 9 38
19727229 2009
26
[No association of the A2756G polymorphism of methionine synthase gene with nonsyndromic cleft lip with or without cleft palate]. 9 38
19504454 2009
27
Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. 9 38
19388848 2009
28
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. 9 38
19320731 2009
29
Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. 9 38
18771417 2008
30
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia. 9 38
18956930 2008
31
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. 9 38
18688869 2008
32
Czech dysplasia: report of a large family and further delineation of the phenotype. 9 38
18553548 2008
33
Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate. 9 38
18356023 2008
34
[Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. 9 38
18705505 2008
35
Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts. 9 38
18161794 2008
36
Association of the GABRB3 gene with nonsyndromic oral clefts. 9 38
18452349 2008
37
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. 9 38
17868388 2007
38
[Association of transforming growth factor-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate in Han nationality]. 9 38
17629209 2007
39
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. 9 38
17551083 2007
40
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. 9 38
17431894 2007
41
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 9 38
17438386 2007
42
In vitro manipulation of cleft palate connective tissue: setting the bases of a proposed new treatment. 9 38
17173932 2007
43
[Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility]. 9 38
17456381 2007
44
Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. 9 38
17219389 2007
45
[Relationship between transforming growth factor-alpha gene polymorphism and non-syndromic cleft lip with cleft palate]. 9 38
17334078 2006
46
[Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate]. 9 38
17313741 2006
47
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. 9 38
16882747 2006
48
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 9 38
16764984 2006
49
A mutation of the p63 gene in non-syndromic cleft lip. 9 38
16740912 2006
50
Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome. 9 38
16245336 2006

Variations for Cleft Palate, Isolated

ClinVar genetic disease variations for Cleft Palate, Isolated:

6 (show all 30)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SATB2 NM_015265.4(SATB2): c.1375C> T (p.Arg459Ter) single nucleotide variant Pathogenic rs1553547838 2:200193432-200193432 2:199328709-199328709
2 SATB2 NM_015265.4(SATB2): c.1652_1653AG[1] (p.Arg552fs) short repeat Pathogenic rs1553544133 2:200173568-200173569 2:199308845-199308846
3 NIPBL NM_015384.5(NIPBL): c.7459del (p.Glu2487fs) deletion Pathogenic rs1554034812 5:37059041-37059041 5:37058939-37058939
4 FLNA NM_001110556.2(FLNA): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs28935469 X:153596212-153596212 X:154367844-154367844
5 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 5:176662864-176662864 5:177235863-177235863
6 GNB1 NM_002074.5(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 1:1737942-1737942 1:1806503-1806503
7 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
8 46;XX;ins(5;6)(p13;p24p25)dn Translocation Pathogenic
9 TMCO1 NM_019026.4(TMCO1): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic 1:165712409-165712409 1:165743172-165743172
10 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic 4:6303521-6303521 4:6301794-6301794
11 PGAP3 NM_033419.5(PGAP3): c.851A> G (p.His284Arg) single nucleotide variant Pathogenic 17:37829352-37829352 17:39673099-39673099
12 INPP5E NM_019892.6(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 9:139327634-139327634 9:136433182-136433182
13 IRF6 NM_006147.4(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 1:209974743-209974743 1:209801398-209801398
14 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 17:16852187-16852187 17:16948873-16948873
15 NFIA NM_001145511.2(NFIA): c.881del (p.Gly294fs) deletion Likely pathogenic rs1057518992 1:61824905-61824905 1:61359233-61359233
16 LRRC32 NM_005512.2(LRRC32): c.1630C> T (p.Arg544Ter) single nucleotide variant Likely pathogenic 11:76371007-76371007 11:76659963-76659963
17 COL11A1 NM_080629.2(COL11A1): c.4084_4101del (p.Ser1362_Pro1367del) deletion Likely pathogenic rs1553200431 1:103377736-103377753 1:102912180-102912197
18 TMCO1 NM_019026.4(TMCO1): c.646_647del (p.Ala216fs) deletion Likely pathogenic 1:165697332-165697334 1:165728096-165728097
19 FGF14 NM_175929.2(FGF14): c.501dup (p.Arg168fs) duplication Likely pathogenic 13:102379082-102379083 13:101726733-101726733
20 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic 2:175689207-175689207 2:174824479-174824479
21 MYO15A NM_016239.4(MYO15A): c.1454T> C (p.Val485Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200532919 17:18023568-18023568 17:18120254-18120254
22 DNAH11 NM_001277115.2(DNAH11): c.10472G> A (p.Arg3491His) single nucleotide variant Uncertain significance rs370932895 7:21856224-21856224 7:21816606-21816606
23 KIF1A NM_004321.7(KIF1A): c.2749C> T (p.His917Tyr) single nucleotide variant Uncertain significance 2:241686664-241686664 2:240747247-240747247
24 DEPDC5 NM_001242897.2(DEPDC5): c.2551G> A (p.Gly851Ser) single nucleotide variant Uncertain significance 22:32239782-32239782 22:31843796-31843796
25 SOX3 NM_005634.2(SOX3): c.735_737dup (p.Ala248dup) duplication Uncertain significance rs398124211 X:139586489-139586491 X:140504324-140504326
26 PDGFRA NM_006206.6(PDGFRA): c.3155C> T (p.Thr1052Met) single nucleotide variant Uncertain significance rs397514550 4:55161324-55161324 4:54295157-54295157
27 VANGL1 NM_138959.3(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 1:116206600-116206600 1:115663979-115663979
28 TBX22 NM_001109878.2(TBX22): c.448A> C (p.Lys150Gln) single nucleotide variant Uncertain significance rs1156605251 X:79279653-79279653 X:80024154-80024154
29 PDGFRA NM_006206.6(PDGFRA): c.1202C> A (p.Ala401Asp) single nucleotide variant Likely benign rs397514549 4:55136880-55136880 4:54270713-54270713
30 PDGFRA NM_006206.6(PDGFRA): c.1631T> C (p.Val544Ala) single nucleotide variant Likely benign rs181854060 4:55140770-55140770 4:54274603-54274603

Copy number variations for Cleft Palate, Isolated from CNVD:

7
# CNVD ID Chromosom 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

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

# Super pathways Score Top Affiliating Genes
1 11.26 MSX1 IRF6 BMP4
2 9.53 TGFB3 IRF6

GO Terms for Cleft Palate, Isolated

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.96 TGFB3 NSD1 IRF6 FOXE1 BMP4
2 negative regulation of transcription, DNA-templated GO:0045892 9.92 TBX22 NIPBL MSX1 FOXE1 BMP4
3 negative regulation of neuron apoptotic process GO:0043524 9.77 WFS1 TGFB3 GABRB3
4 sensory perception of sound GO:0007605 9.76 WFS1 NIPBL GABRB3
5 cartilage development GO:0051216 9.61 SATB2 MSX1 BMP4
6 positive regulation of collagen biosynthetic process GO:0032967 9.59 TGFB3 BMP4
7 cell development GO:0048468 9.58 TGFB3 IRF6 BMP4
8 camera-type eye morphogenesis GO:0048593 9.57 NECTIN1 BMP4
9 positive regulation of neuron migration GO:2001224 9.55 NIPBL FLNA
10 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.54 WFS1 TMCO1
11 odontogenesis of dentin-containing tooth GO:0042475 9.54 MSX1 LHX8 BMP4
12 positive regulation of ossification GO:0045778 9.51 NIPBL BMP4
13 positive regulation of SMAD protein signal transduction GO:0060391 9.49 TGFB3 BMP4
14 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.48 MSX1 BMP4
15 ER overload response GO:0006983 9.46 WFS1 TMCO1
16 odontogenesis GO:0042476 9.43 TGFB3 MSX1 BMP4
17 face morphogenesis GO:0060325 9.33 TGFB3 NIPBL MSX1
18 BMP signaling pathway involved in heart development GO:0061312 9.32 MSX1 BMP4
19 roof of mouth development GO:0060021 9.26 SATB2 MSX1 GABRB3 FOXE1
20 negative regulation of transcription by RNA polymerase II GO:0000122 9.23 WFS1 TBX22 SATB2 NSD1 NIPBL MSX1
21 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 TGFB3 SATB2 NIPBL MSX1 IRF6 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.02 SATB2 MSX1 LHX8 IRF6 FOXE1

Sources for Cleft Palate, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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