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CPI
MCID: CLF027
MIFTS: 64

Cleft Palate, Isolated (CPI)

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cleft Palate, Isolated

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MalaCards integrated aliases for Cleft Palate, Isolated:

Name: Cleft Palate, Isolated 56 29 6 39 71
Cleft Palate 56 12 74 58 29 54 6 43 15 71 32
Isolated Cleft Palate 12 15
Cpi 56 73
Cp 56 73
Cleft Palate Isolated with Mental Retardation 73
Cleft Palate Isolated 73
Uranostaphyloschisis 71
Cleft Palate; Cp 56
Palatoschisis 12

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant


HPO:

31
cleft palate, isolated:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Oral diseases Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110213 DOID:674
OMIM 56 119540
ICD9CM 34 749.0 749.00
MeSH 43 D002972
NCIt 49 C87069
SNOMED-CT 67 87979003
MESH via Orphanet 44 D002972
ICD10 via Orphanet 33 Q35.1 Q35.3 Q35.5 more
UMLS via Orphanet 72 C0008925
Orphanet 58 ORPHA2014
UMLS 71 C0008925 C1837218 C2981150
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Summaries for Cleft Palate, Isolated

About this section
UniProtKB/Swiss-Prot : 73 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 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate and cleft lip with or without 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 is 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 : 56 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 : 74 Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft... more...

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Related Diseases for Cleft Palate, Isolated

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

(show top 50) (show all 1166)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 35.4 TGFB3 TBX22 MSX1 IRF6 FOXE1
2 cleft lip with or without cleft palate 35.3 TGFA NECTIN1 MSX1 IRF6
3 cleft palate with or without ankyloglossia, x-linked 34.7 TBX22 MSX1
4 cleft lip/palate 34.6 TGFA NECTIN1 MSX1 IRF6
5 syngnathia 34.4 MSX1 IRF6
6 van der woude syndrome 1 34.3 TGFB3 TGFA TBX22 SATB2 NECTIN1 MSX1
7 abruzzo-erickson syndrome 34.2 TCOF1 TBX22
8 cleft lip 34.1 TGFB3 TGFA TBX22 SATB2 NECTIN1 MSX1
9 cleft lip/palate-ectodermal dysplasia syndrome 33.9 NECTIN1 IRF6 FOXE1
10 popliteal pterygium syndrome 33.9 TGFB3 TBX22 NECTIN1 MSX1 IRF6 FOXE1
11 orofacial cleft 33.9 TGFB3 TGFA TCOF1 TBX22 SATB2 NIPBL
12 branchiooculofacial syndrome 33.6 TBX22 MSX1 IRF6
13 isolated cleft lip 33.2 NECTIN1 MSX1 IRF6 FOXE1
14 cleft lip and alveolus 33.0 NECTIN1 MSX1 IRF6
15 wolf-hirschhorn syndrome 32.8 WFS1 NSD1 MSX1 H2AC18
16 tooth agenesis 31.9 TGFB3 TGFA TBX22 SATB2 NECTIN1 MSX1
17 chromosome 2q35 duplication syndrome 31.7 NIPBL NECTIN1 MSX1 IRF6
18 microcephaly 31.7 TCOF1 SATB2 PGAP3 NSD1 NIPBL FLNA
19 omphalocele 31.5 TGFB3 NSD1 MSX1 FLNA
20 macroglossia 31.5 NSD1 COL2A1
21 ankyloglossia with or without tooth anomalies 31.1 TBX22 MSX1 IRF6
22 hard palate cancer 31.1 TBX22 MSX1 IRF6
23 patent ductus arteriosus 1 31.0 TNFRSF13B NSD1 INPP5E FLNA
24 sotos syndrome 1 31.0 NSD1 NIPBL H2AC18
25 skeletal dysplasias 31.0 FLNA COL2A1
26 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 30.6 TNFRSF13B INPP5E
27 omphalocele-cleft palate syndrome, lethal 12.7
28 microtia, hearing impairment, and cleft palate 12.7
29 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.7
30 cleft palate, cardiac defects, and mental retardation 12.7
31 cleft palate, psychomotor retardation, and distinctive facial features 12.6
32 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.6
33 submucosal cleft palate 12.5
34 cleft palate x-linked 12.5
35 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.5
36 cleft palate short stature vertebral anomalies 12.5
37 ankyloblepharon filiforme adnatum and cleft palate 12.5
38 palant cleft palate syndrome 12.5
39 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.5
40 syngnathia cleft palate 12.4
41 dominant cleft palate 12.4
42 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.4
43 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.4
44 acromegaloid features, overgrowth, cleft palate, and hernia 12.4
45 mandibulofacial dysostosis, guion-almeida type 12.3
46 ectrodactyly-cleft palate syndrome 12.3
47 cleft palate, deafness, and oligodontia 12.3
48 dysmorphism cleft palate loose skin 12.3
49 myopathy, congenital, bailey-bloch 12.3
50 arthrogryposis, distal, type 3 12.3

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



Diseases related to Cleft Palate, Isolated
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Symptoms & Phenotypes for Cleft Palate, Isolated

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Human phenotypes related to Cleft Palate, Isolated:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
2 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
3 seizures 31 HP:0001250
4 gingival overgrowth 31 HP:0000212
5 micrognathia 31 HP:0000347
6 intellectual disability, profound 31 HP:0002187
7 anterior open-bite malocclusion 31 HP:0009102
8 overbite 31 HP:0011094

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.3 COL2A1 FLNA FOXE1 INPP5E IRF6 MSX1
2 growth/size/body region MP:0005378 10.27 COL2A1 FLNA FOXE1 INPP5E IRF6 MSX1
3 behavior/neurological MP:0005386 10.22 COL2A1 FLNA GNB1 MSX1 NECTIN1 NIPBL
4 digestive/alimentary MP:0005381 10.21 COL2A1 FLNA FOXE1 INPP5E IRF6 MSX1
5 mortality/aging MP:0010768 10.21 COL2A1 FLNA FOXE1 GNB1 INPP5E IRF6
6 embryo MP:0005380 10.1 COL2A1 GNB1 INPP5E IRF6 MSX1 NIPBL
7 limbs/digits/tail MP:0005371 9.97 COL2A1 INPP5E IRF6 MSX1 NIPBL PGAP3
8 skeleton MP:0005390 9.77 COL2A1 FLNA INPP5E IRF6 MSX1 NECTIN1
9 respiratory system MP:0005388 9.76 COL2A1 FLNA GNB1 MSX1 SATB2 TBX22
10 vision/eye MP:0005391 9.28 COL2A1 FLNA INPP5E MSX1 NECTIN1 NIPBL
Sources

Drugs & Therapeutics for Cleft Palate, Isolated

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

(show top 50) (show all 105)
# 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 Antitussive Agents Phase 4
8 Chlorpheniramine, phenylpropanolamine drug combination 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 38396-39-3, 2180-92-9 2474
14
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
15
Racepinephrine Approved Phase 3 329-65-7 838
16
leucovorin Approved Phase 3 58-05-9 6006 143
17
Levobupivacaine Approved, Investigational Phase 2, Phase 3 27262-47-1 92253
18
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
20 Anesthetics, Local Phase 3
21 Anesthetics Phase 3
22 Epinephryl borate Phase 3
23 Anti-Inflammatory Agents Phase 3
24 Vitamins Phase 3
25 Micronutrients Phase 3
26 Hematinics Phase 3
27 Trace Elements Phase 3
28 Vitamin B Complex Phase 3
29 Vitamin B9 Phase 3
30 Nutrients Phase 3
31 Folate Phase 3
32 Pharmaceutical Solutions Phase 3
33 Anti-Inflammatory Agents, Non-Steroidal Phase 3
34 Cyclooxygenase Inhibitors Phase 3
35 Ketorolac Tromethamine Phase 3
36 Antirheumatic Agents Phase 3
37
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249
38
Sulbactam Approved Phase 2 68373-14-8
39
Sultamicillin Approved, Investigational Phase 2 76497-13-7
40
Simvastatin Approved Phase 2 79902-63-9 54454
41
Acetylcholine Approved, Investigational Phase 1, Phase 2 51-84-3 187
42 Antibiotics, Antitubercular Phase 2
43 Antitubercular Agents Phase 2
44 Anti-Bacterial Agents Phase 2
45 Anti-Infective Agents Phase 2
46 beta-Lactamase Inhibitors Phase 2
47 Anticholesteremic Agents Phase 2
48 Hypolipidemic Agents Phase 2
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
50 Lipid Regulating Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 105)
# 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 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
23 A Prospective, Double-Blinded, Randomized Comparison of Intravenous Acetaminophen Versus Placebo in Children Undergoing Palatoplasty Withdrawn NCT01760330 Phase 2 IV acetaminophen;Placebo
24 An Investigation for the Optimal Timing of a Cleft Palate Repair Unknown status NCT00779961 Early Phase 1
25 Improving Outcomes in Cleft Palate Surgery Through an Audit and Feedback Intervention Directed at Surgeons Unknown status NCT02583100
26 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
27 Validation of a Production Method of Stem Cell Isolated From the Nasal Cavity for an Innovative Cell Therapy of Cleft Palate Unknown status NCT02900014
28 Evaluation of the Incidence of Palatal Fistula in Furlow Double-opposing Z-plasty vs. Two-flap Palatoplasty for Cleft Palate Repair Unknown status NCT03055637
29 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
30 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234
31 Quantification, Analysis and Simulation of Facial Mimics Movements Unknown status NCT02002572
32 Follow Ups of Parents With Infants With Cleft Lip and Palate Unknown status NCT02415361
33 Influence of Medical Clowning in Videofluoroscopic Examination of Pediatric Speech Disorder Unknown status NCT02701322
34 Middle Ear Pressure Disregulation in Cleft Palate Patients: Form-Function Correlates Completed NCT00423072
35 Sleep and Neurobehavioral Performance After Cleft Palate Repair Completed NCT01046591
36 Retrospective Study on the Outcome of Cleft Palate Repair: Comparing US Surgical and Ethicon Suture Materials Completed NCT00584272
37 Does Acellular Dermal Matrix Reduce Fistula Rate in Primary Palatoplasty Completed NCT01867632
38 Effect of Neck Extension on Optic Nerve Sheath Diameter in Patients Undergoing Palatoplasty Completed NCT03585608
39 Exercise Of Semi-Occluded Vocal Tract In Velopharyngeal Dysfunction In Patients With Cleft Palate : Effects Of Short-Term Completed NCT03966482
40 Using of Acellular Dermal Matrix in Cleft Palatal Fistula and Compare With Use of Conchal Cartolage Completed NCT03170505
41 OSAS in Children With Cleft Lip/Palate Completed NCT00156442
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 Unilateral Cleft Repair in One Surgery With Pure Primary Healing Completed NCT04108416
46 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
47 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
48 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
49 Systematic Pediatric Care for Oral Clefts - South America Completed NCT00097149
50 Ultrasound Diagnosis of Cleft Lip and Palate - FENCHU Completed NCT03582111

Search NIH Clinical Center for Cleft Palate, Isolated

Cochrane evidence based reviews: cleft palate

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Genetic Tests for Cleft Palate, Isolated

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Genetic tests related to Cleft Palate, Isolated:

# Genetic test Affiliating Genes
1 Cleft Palate, Isolated 29
2 Cleft Palate 29
Sources

Anatomical Context for Cleft Palate, Isolated

About this section

MalaCards organs/tissues related to Cleft Palate, Isolated:

40
Bone, Tongue, Heart, Brain, Skin, Testes, Thyroid
Sources

Publications for Cleft Palate, Isolated

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Articles related to Cleft Palate, Isolated:

(show top 50) (show all 11690)
# Title Authors PMID Year
1
Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate--a Danish Registry study. 54 61 56
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. 54 61 56
7702037 1995
3
Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). 54 61 56
8105683 1993
4
PDGFRa mutations in humans with isolated cleft palate. 61 6
22473090 2012
5
Selection bias in genetic-epidemiological studies of cleft lip and palate. 61 56
1496993 1992
6
Segregation of HLA in families with oral clefts: evidence against linkage between isolated cleft palate and HLA. 61 56
6859128 1983
7
A family study of isolated cleft palate. 61 56
7143384 1982
8
Cleft palate: a genetic and epidemiologic investigation. 61 56
7296943 1981
9
Dominant inheritance of cleft of the soft palate. 61 56
7372339 1980
10
Facial clefts in Danish twins. 61 56
282023 1979
11
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 56
10742093 2000
12
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. 54 61
20424327 2010
13
p63 and IRF6: brothers in arms against cleft palate. 54 61
20424318 2010
14
MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. 54 61
20082468 2010
15
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. 54 61
20101701 2010
16
Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. 54 61
19891592 2010
17
Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility. 54 61
19914800 2010
18
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. 54 61
20121942 2009
19
Czech dysplasia occurring in a Japanese family. 54 61
19764028 2009
20
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. 54 61
19444471 2009
21
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 54 61
19542084 2009
22
Cleft palate in Pfeiffer syndrome. 54 61
19816260 2009
23
Tbx22 expressions during palatal development in fetuses with glucocorticoid-/alcohol-induced C57BL/6N cleft palates. 54 61
19816249 2009
24
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. 54 61
19536891 2009
25
Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population. 54 61
19727229 2009
26
[No association of the A2756G polymorphism of methionine synthase gene with nonsyndromic cleft lip with or without cleft palate]. 54 61
19504454 2009
27
Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. 54 61
19388848 2009
28
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. 54 61
19320731 2009
29
Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. 54 61
18771417 2008
30
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia. 54 61
18956930 2008
31
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. 54 61
18688869 2008
32
Czech dysplasia: report of a large family and further delineation of the phenotype. 54 61
18553548 2008
33
[Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. 54 61
18705505 2008
34
Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts. 54 61
18161794 2008
35
Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate. 54 61
18356023 2008
36
Association of the GABRB3 gene with nonsyndromic oral clefts. 54 61
18452349 2008
37
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. 54 61
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]. 54 61
17629209 2007
39
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. 54 61
17551083 2007
40
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. 54 61
17431894 2007
41
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 54 61
17438386 2007
42
In vitro manipulation of cleft palate connective tissue: setting the bases of a proposed new treatment. 54 61
17173932 2007
43
Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. 54 61
17219389 2007
44
[Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility]. 54 61
17456381 2007
45
[Relationship between transforming growth factor-alpha gene polymorphism and non-syndromic cleft lip with cleft palate]. 54 61
17334078 2006
46
[Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate]. 54 61
17313741 2006
47
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. 54 61
16882747 2006
48
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 54 61
16764984 2006
49
A mutation of the p63 gene in non-syndromic cleft lip. 54 61
16740912 2006
50
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 54 61
16674562 2006
Sources

Variations for Cleft Palate, Isolated

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ClinVar genetic disease variations for Cleft Palate, Isolated:

6 (show all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
2 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
3 FLNA NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)SNV Pathogenic 11755 rs28935469 X:153596212-153596212 X:154367844-154367844
4 46;X;t(X;5)(p11.23;q35)dnTranslocation Pathogenic 267815
5 46;XX;ins(5;6)(p13;p24p25)dnTranslocation Pathogenic 267851
6 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)SNV Pathogenic 522269 rs1553547838 2:200193432-200193432 2:199328709-199328709
7 SATB2 NM_001172509.2(SATB2):c.1652_1653AG[1] (p.Arg552fs)short repeat Pathogenic 523423 rs1553544133 2:200173568-200173569 2:199308845-199308846
8 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)deletion Pathogenic 523556 rs1554034812 5:37059040-37059040 5:37058938-37058938
9 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
10 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)SNV Pathogenic 598973 rs771409809 4:6303521-6303521 4:6301794-6301794
11 PGAP3 NM_033419.5(PGAP3):c.851A>G (p.His284Arg)SNV Pathogenic 599004 rs776720232 17:37829352-37829352 17:39673099-39673099
12 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)SNV Pathogenic/Likely pathogenic 400 rs121918130 9:139327634-139327634 9:136433182-136433182
13 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)SNV Pathogenic/Likely pathogenic 3417 rs28942094 1:209974743-209974743 1:209801398-209801398
14 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg)SNV risk factor 5302 rs34557412 17:16852187-16852187 17:16948873-16948873
15 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197
16 NFIA NM_001134673.4(NFIA):c.905del (p.Gly302fs)deletion Likely pathogenic 374230 rs1057518992 1:61824904-61824904 1:61359232-61359232
17 PGM1 NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter)SNV Likely pathogenic 694645 1:64100621-64100621 1:63634950-63634950
18 FGF14 NM_175929.2(FGF14):c.501dup (p.Arg168fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
19 CHN1 NM_001822.5(CHN1):c.667G>A (p.Ala223Thr)SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
20 LRRC32 NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter)SNV Likely pathogenic 545640 rs369867819 11:76371007-76371007 11:76659963-76659963
21 TMCO1 NM_019026.4(TMCO1):c.646_647del (p.Ala216fs)deletion Likely pathogenic 598949 rs1558027212 1:165697333-165697334 1:165728096-165728097
22 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
23 MYO15A NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)SNV Conflicting interpretations of pathogenicity 195313 rs200532919 17:18023568-18023568 17:18120254-18120254
24 DNAH11 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)SNV Uncertain significance 198347 rs370932895 7:21856224-21856224 7:21816606-21816606
25 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)SNV Uncertain significance 167818 rs142594314 1:116206600-116206600 1:115663979-115663979
26 PDGFRA NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met)SNV Uncertain significance 39618 rs397514550 4:55161324-55161324 4:54295157-54295157
27 TBX22 NM_001109878.2(TBX22):c.448A>C (p.Lys150Gln)SNV Uncertain significance 523404 rs1156605251 X:79279653-79279653 X:80024154-80024154
28 KIF1A NM_004321.7(KIF1A):c.2749C>T (p.His917Tyr)SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247
29 DEPDC5 NM_001242897.2(DEPDC5):c.2551G>A (p.Gly851Ser)SNV Uncertain significance 599003 rs1569084151 22:32239782-32239782 22:31843796-31843796
30 INPP1 NM_001128928.2(INPP1):c.70del (p.Gln24fs)deletion Uncertain significance 619168 2:191224898-191224898 2:190360172-190360172
31 NDC1 NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)SNV Uncertain significance 619169 1:54266482-54266482 1:53800809-53800809
32 NEK9 NM_033116.6(NEK9):c.1505A>G (p.Tyr502Cys)SNV Likely benign 619170 14:75573228-75573228 14:75106525-75106525
33 TENM4 NM_001098816.3(TENM4):c.1556G>A (p.Gly519Glu)SNV Likely benign 619134 11:78565274-78565274 11:78854229-78854229
34 PDGFRA NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp)SNV Likely benign 39616 rs397514549 4:55136880-55136880 4:54270713-54270713
35 PDGFRA NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala)SNV Likely benign 39617 rs181854060 4:55140770-55140770 4:54274603-54274603

Copy number variations for Cleft Palate, Isolated from CNVD:

7
# 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
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Expression for Cleft Palate, Isolated

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

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

# Super pathways Score Top Affiliating Genes
1
Hypothetical Craniofacial Development Pathway 1
9.53 TGFB3 IRF6
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GO Terms for Cleft Palate, Isolated

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.17 TBX22 SATB2 NIPBL MSX1 IRF6 H2AC18

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

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.5 SATB2 MSX1 COL2A1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.5 WFS1 TBX22 SATB2 NSD1 NIPBL MSX1
3 positive regulation of neuron migration GO:2001224 9.43 NIPBL FLNA
4 heart morphogenesis GO:0003007 9.43 NIPBL MSX1 COL2A1
5 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.4 WFS1 TMCO1
6 ER overload response GO:0006983 9.37 WFS1 TMCO1
7 face morphogenesis GO:0060325 9.33 TGFB3 NIPBL MSX1
8 roof of mouth development GO:0060021 9.02 SATB2 MSX1 IRF6 FOXE1 COL2A1
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Sources for Cleft Palate, Isolated

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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