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CPI
MCID: CLF027
MIFTS: 64

Cleft Palate, Isolated (CPI)

Categories: Ear diseases, 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 57 29 6 39 71
Cleft Palate 57 12 74 58 29 54 6 44 15 71 32
Isolated Cleft Palate 12 15
Cpi 57 73
Cp 57 73
Cleft Palate Isolated with Mental Retardation 73
Cleft Palate Isolated 73
Uranostaphyloschisis 71
Cleft Palate; Cp 57
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®:

57 (Updated 05-Mar-2021)
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 Ear 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® 57 119540
ICD9CM 34 749.0
MeSH 44 D002972
NCIt 50 C87069
SNOMED-CT 67 156940009
MESH via Orphanet 45 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

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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 cleft lip/palate and cleft palate with or without ankyloglossia, x-linked, 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. 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) (Updated 05-Mar-2021)

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 951)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate 33.4 TBX22 MSX1 IRF6
2 cleft palate with or without ankyloglossia, x-linked 33.4 TBX22 MSX1
3 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 33.3 TBX22 MSX1 IRF6
4 syngnathia 33.3 MSX1 IRF6
5 van der woude syndrome 1 33.2 TBX22 SATB2 MSX1 IRF6
6 orofacial cleft 8 32.9 SMARCA4 IRF6
7 abruzzo-erickson syndrome 32.9 TBX22 FLNA
8 cleft soft palate 32.8 TBX22 IRF6 COL11A1
9 popliteal pterygium syndrome 32.8 TBX22 MSX1 IRF6
10 branchiooculofacial syndrome 32.7 TBX22 MSX1 IRF6
11 orofacial cleft 32.7 TBX22 SATB2 NIPBL MSX1 IRF6 COL11A1
12 stickler syndrome 32.7 TBX22 MSX1 IRF6 COL11A1
13 kabuki syndrome 1 32.6 SMARCA4 NSD1 IRF6
14 marden-walker syndrome 32.4 WFS1 CHN1
15 wolf-hirschhorn syndrome 32.2 WFS1 NSD1 MSX1
16 isolated cleft lip 32.0 MSX1 IRF6
17 cleft lip and alveolus 31.9 MSX1 IRF6
18 uvula, bifid 31.9 NSD1 FGF14
19 ankyloglossia with or without tooth anomalies 31.8 TBX22 MSX1 IRF6
20 microcephaly 31.7 SMARCA4 SATB2 PGAP3 NSD1 NIPBL GNB1
21 alacrima, achalasia, and mental retardation syndrome 31.6 SMARCA4 SETD5 SATB2 NSD1 GNB1 FLNA
22 tooth agenesis 31.5 TBX22 SATB2 MSX1 IRF6
23 hypertelorism 31.5 NSD1 FGF14 COL11A1
24 hydronephrosis 31.4 WFS1 PGM1 FLNA CHN1
25 macroglossia 31.3 NSD1 COL11A1
26 strabismus 31.3 TMCO1 SMARCA4 GNB1 COL11A1 CHN1
27 cryptorchidism, unilateral or bilateral 31.2 TMCO1 NSD1 NIPBL FGF14
28 chromosome 2q35 duplication syndrome 31.2 NIPBL MSX1 IRF6
29 seizure disorder 31.1 PGAP3 NSD1 GNB1 FLNA FGF14
30 omphalocele 31.1 NSD1 MSX1 FLNA
31 cleft lip 31.1 TBX22 SETD5 MSX1 IRF6
32 west syndrome 30.7 SETD5 PIGW GNB1 FLNA
33 chromosome 16p13.3 deletion syndrome, proximal 30.7 SMARCA4 NSD1 NIPBL
34 patent ductus arteriosus 1 30.7 NSD1 INPP5E FLNA
35 duane retraction syndrome 1 30.7 WFS1 CHN1
36 microtia, hearing impairment, and cleft palate 11.7
37 omphalocele-cleft palate syndrome, lethal 11.7
38 cleft palate, cardiac defects, and mental retardation 11.7
39 mandibulofacial dysostosis, guion-almeida type 11.6
40 schilbach-rott syndrome 11.6
41 arthrogryposis, distal, type 3 11.6
42 cleft palate, psychomotor retardation, and distinctive facial features 11.6
43 bamforth syndrome 11.6
44 aase-smith syndrome i 11.6
45 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 11.6
46 cleft lip with or without cleft palate 11.6
47 orofacial cleft 11 11.5
48 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.5
49 pierre robin syndrome 11.5
50 myopathy, congenital, bailey-bloch 11.5

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 gingival overgrowth 31 HP:0000212
4 micrognathia 31 HP:0000347
5 intellectual disability, profound 31 HP:0002187
6 overbite 31 HP:0011094
7 anterior open-bite malocclusion 31 HP:0009102
8 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Mouth:
cleft palate, isolated

Clinical features from OMIM®:

119540 (Updated 05-Mar-2021)

UMLS symptoms related to Cleft Palate, Isolated:


seizures

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 CHN1 COL11A1 FGF14 FLNA GNB1 INPP5E
2 behavior/neurological MP:0005386 10.27 CHN1 COL11A1 FGF14 FLNA GNB1 MSX1
3 craniofacial MP:0005382 10.26 COL11A1 FLNA GNB1 INPP5E IRF6 MSX1
4 mortality/aging MP:0010768 10.22 CHN1 COL11A1 FLNA GNB1 INPP5E IRF6
5 embryo MP:0005380 10.17 COL11A1 GNB1 INPP5E IRF6 MSX1 NIPBL
6 digestive/alimentary MP:0005381 10.16 COL11A1 FLNA INPP5E IRF6 MSX1 SATB2
7 limbs/digits/tail MP:0005371 10.07 COL11A1 GNB1 INPP5E IRF6 MSX1 NIPBL
8 nervous system MP:0003631 10 CHN1 COL11A1 FGF14 FLNA GNB1 INPP5E
9 skeleton MP:0005390 9.73 COL11A1 FLNA GNB1 INPP5E IRF6 MSX1
10 respiratory system MP:0005388 9.7 COL11A1 FLNA GNB1 MSX1 SATB2 SMARCA4
11 vision/eye MP:0005391 9.28 CHN1 FLNA GNB1 INPP5E MSX1 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 68)
# 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 Antitussive Agents Phase 4
7 Analgesics, Opioid Phase 4
8 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
9 Antifibrinolytic Agents Phase 4
10 Hemostatics Phase 4
11 Fibrin Tissue Adhesive Phase 4
12 Coagulants Phase 4
13
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
14
Racepinephrine Approved Phase 3 329-65-7 838
15
Bupivacaine Approved, Investigational Phase 3 38396-39-3, 2180-92-9 2474
16
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
17
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
19 Pharmaceutical Solutions Phase 3
20 Ketorolac Tromethamine Phase 3
21 Anti-Inflammatory Agents Phase 3
22 Epinephryl borate Phase 3
23 Antirheumatic Agents Phase 3
24 Cyclooxygenase Inhibitors Phase 3
25 Anti-Inflammatory Agents, Non-Steroidal Phase 3
26 Vitamin B Complex Phase 3
27 Micronutrients Phase 3
28 Hematinics Phase 3
29 Nutrients Phase 3
30 Trace Elements Phase 3
31 Vitamins Phase 3
32 Vitamin B9 Phase 3
33 Folate Phase 3
34
Sulbactam Approved Phase 2 68373-14-8
35
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249
36
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
37
tannic acid Approved Phase 1, Phase 2 1401-55-4
38
Simvastatin Approved Phase 2 79902-63-9 54454
39
Acetylcholine Approved, Investigational Phase 1, Phase 2 51-84-3 187
40 Antibiotics, Antitubercular Phase 2
41 Anti-Infective Agents Phase 2
42 Anti-Bacterial Agents Phase 2
43 beta-Lactamase Inhibitors Phase 2
44 Phytosterol Phase 1, Phase 2
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
46 Antimetabolites Phase 2
47 Hypolipidemic Agents Phase 2
48 Lipid Regulating Agents Phase 2
49 Anticholesteremic Agents Phase 2
50 Anesthetics Phase 2

Interventional clinical trials:

(show top 50) (show all 89)
# 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 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
5 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
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 Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
8 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
9 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
10 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
11 Dose Use of Rigid Fixation After Removing the Distraction Device Reduce the Anterior-posterior Relapse or Not? Completed NCT02350803 Phase 2
12 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
13 Efficacy of Preoperative Prophylactic Antibiotics in Preventing Complications in the Primary Repair of Cleft Palates Completed NCT00760006 Phase 2 Unasyn
14 Distraction Versus Orthognathic Surgery - Which One is Better for Cleft Palate Patients Completed NCT00930124 Phase 2
15 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
16 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
17 Velopharyngeal Function for Speech After Palatal Surgery Completed NCT00004639 Phase 2
18 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
19 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
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 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
22 A Prospective, Double-Blinded, Randomized Comparison of Intravenous Acetaminophen Versus Placebo in Children Undergoing Palatoplasty Withdrawn NCT01760330 Phase 2 IV acetaminophen;Placebo
23 Timing of Primary Surgery for Cleft Palate Unknown status NCT00993551
24 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
25 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
26 Improving Outcomes in Cleft Palate Surgery Through an Audit and Feedback Intervention Directed at Surgeons Unknown status NCT02583100
27 Comparative Study of Bilateral Suprazygomatic Maxillary Nerve Block and Surgical Site Infiltration for Perioperative Analgesia in Children Undergoing Cleft Palate Repair Unknown status NCT03799068
28 Evaluation of Bone-borne Palatal Expander in Conjunction With Maxillary Osteotomy in the Treatment of Cleft Palate Patients Unknown status NCT03837652
29 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
30 Validation of a Production Method of Stem Cell Isolated From the Nasal Cavity for an Innovative Cell Therapy of Cleft Palate Unknown status NCT02900014
31 Evaluation of the Incidence of Palatal Fistula in Furlow Double-opposing Z-plasty vs. Two-flap Palatoplasty for Cleft Palate Repair Unknown status NCT03055637
32 Partial Adenoidectomy in Cases of Velopharyngeal Dysfunction Unknown status NCT03469973
33 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
34 Follow Ups of Parents With Infants With Cleft Lip and Palate Unknown status NCT02415361
35 Retrospective Study on the Outcome of Cleft Palate Repair: Comparing US Surgical and Ethicon Suture Materials Completed NCT00584272
36 Middle Ear Pressure Disregulation in Cleft Palate Patients: Form-Function Correlates Completed NCT00423072
37 FaceBase Biorepository Completed NCT01252264
38 Effect of Alveolar Bone Grafting on Health Quality in Patients With Cleft Lip and Palate Completed NCT03549039
39 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
40 Using of Acellular Dermal Matrix in Cleft Palatal Fistula and Compare With Use of Conchal Cartolage Completed NCT03170505
41 Unilateral Cleft Repair in One Surgery With Pure Primary Healing Completed NCT04108416
42 Exercise Of Semi-Occluded Vocal Tract In Velopharyngeal Dysfunction In Patients With Cleft Palate : Effects Of Short-Term Completed NCT03966482
43 Otologic and Rhinologic Outcomes in Children With Cleft Palate at Age 10 Years Completed NCT03708406
44 The Possible Effect of Modified Restoration of Tensor Veli Palatini on Audiological and Otological Outcome in Cleft Palate Repair. Completed NCT04366674
45 Palatal Lengthening Using Buccinator Myomucosal Flaps With Furlow Z-plasty Technique for Primary Cleft Palate Repair (A Clinical Study) Completed NCT04346173
46 Sleep and Neurobehavioral Performance After Cleft Palate Repair Completed NCT01046591
47 Does Acellular Dermal Matrix Reduce Fistula Rate in Primary Palatoplasty Completed NCT01867632
48 Pilot Study Evaluating Characteristic Closure Patterns of the Normal Velopharyngeal Portal Completed NCT00773994
49 Effect of Neck Extension on Optic Nerve Sheath Diameter in Patients Undergoing Palatoplasty Completed NCT03585608
50 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

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

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MalaCards organs/tissues related to Cleft Palate, Isolated:

40
Bone, Tongue, Heart, Brain, Skin, Pituitary, Breast
Sources

Publications for Cleft Palate, Isolated

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Articles related to Cleft Palate, Isolated:

(show top 50) (show all 12135)
# Title Authors PMID Year
1
Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate--a Danish Registry study. 57 61 54
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 57
7702037 1995
3
Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). 61 54 57
8105683 1993
4
Selection bias in genetic-epidemiological studies of cleft lip and palate. 61 57
1496993 1992
5
Segregation of HLA in families with oral clefts: evidence against linkage between isolated cleft palate and HLA. 57 61
6859128 1983
6
A family study of isolated cleft palate. 57 61
7143384 1982
7
Cleft palate: a genetic and epidemiologic investigation. 57 61
7296943 1981
8
Dominant inheritance of cleft of the soft palate. 61 57
7372339 1980
9
Facial clefts in Danish twins. 57 61
282023 1979
10
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 57
10742093 2000
11
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. 61 54
20424327 2010
12
p63 and IRF6: brothers in arms against cleft palate. 54 61
20424318 2010
13
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. 54 61
20101701 2010
14
MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. 61 54
20082468 2010
15
Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. 54 61
19891592 2010
16
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
17
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. 61 54
20121942 2009
18
Czech dysplasia occurring in a Japanese family. 54 61
19764028 2009
19
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. 61 54
19536891 2009
20
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 61 54
19542084 2009
21
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. 54 61
19444471 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. 61 54
19816249 2009
24
Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population. 54 61
19727229 2009
25
[No association of the A2756G polymorphism of methionine synthase gene with nonsyndromic cleft lip with or without cleft palate]. 61 54
19504454 2009
26
Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. 61 54
19388848 2009
27
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. 61 54
19320731 2009
28
Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. 61 54
18771417 2008
29
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia. 54 61
18956930 2008
30
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. 54 61
18688869 2008
31
Czech dysplasia: report of a large family and further delineation of the phenotype. 54 61
18553548 2008
32
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
33
Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts. 61 54
18161794 2008
34
[Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. 61 54
18705505 2008
35
Association of the GABRB3 gene with nonsyndromic oral clefts. 54 61
18452349 2008
36
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. 54 61
17868388 2007
37
[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
38
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. 54 61
17551083 2007
39
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. 61 54
17431894 2007
40
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 61 54
17438386 2007
41
In vitro manipulation of cleft palate connective tissue: setting the bases of a proposed new treatment. 61 54
17173932 2007
42
Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. 54 61
17219389 2007
43
[Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility]. 61 54
17456381 2007
44
[Relationship between transforming growth factor-alpha gene polymorphism and non-syndromic cleft lip with cleft palate]. 61 54
17334078 2006
45
[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
46
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. 61 54
16882747 2006
47
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 54 61
16764984 2006
48
A mutation of the p63 gene in non-syndromic cleft lip. 61 54
16740912 2006
49
Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome. 61 54
16245336 2006
50
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 61 54
16674562 2006
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Variations for Cleft Palate, Isolated

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ClinVar genetic disease variations for Cleft Palate, Isolated:

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) SNV Pathogenic 3417 rs28942094 1:209974743-209974743 1:209801398-209801398
2 FLNA NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) SNV Pathogenic 11755 rs28935469 X:153596212-153596212 X:154367844-154367844
3 SATB2 NM_001172509.2(SATB2):c.1652_1653AG[1] (p.Arg552fs) Microsatellite Pathogenic 523423 rs1553544133 2:200173568-200173569 2:199308845-199308846
4 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) Deletion Pathogenic 523556 rs1554034812 5:37059040-37059040 5:37058938-37058938
5 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
6 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic 598973 rs771409809 4:6303521-6303521 4:6301794-6301794
7 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
8 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) SNV Pathogenic 400 rs121918130 9:139327634-139327634 9:136433182-136433182
9 PGAP3 NM_033419.5(PGAP3):c.851A>G (p.His284Arg) SNV Pathogenic 599004 rs776720232 17:37829352-37829352 17:39673099-39673099
10 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
11 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) SNV Pathogenic 522269 rs1553547838 2:200193432-200193432 2:199328709-199328709
12 SETD5 NM_001080517.3(SETD5):c.2168dup (p.Leu723fs) Duplication Pathogenic 981664 3:9490133-9490134 3:9448449-9448450
13 SATB2 NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) SNV Pathogenic 2519 rs137853127 2:200213882-200213882 2:199349159-199349159
14 PIGW NM_001346754.2(PIGW):c.617_620del (p.Val206fs) Deletion Likely pathogenic 377301 rs753385776 17:34893565-34893568 17:36537716-36537719
15 PGM1 NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter) SNV Likely pathogenic 694645 rs1302961946 1:64100621-64100621 1:63634950-63634950
16 SMARCA4 NM_001128849.2(SMARCA4):c.2936G>A (p.Arg979Gln) SNV Likely pathogenic 212246 19:11134270-11134270 19:11023594-11023594
17 LRRC32 NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter) SNV Likely pathogenic 545640 rs369867819 11:76371007-76371007 11:76659963-76659963
18 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs) Duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
19 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
20 TMCO1 NM_019026.4(TMCO1):c.646_647del (p.Ala216fs) Deletion Likely pathogenic 598949 rs1558027212 1:165697333-165697334 1:165728096-165728097
21 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) Deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197
22 NFIA NM_001134673.4(NFIA):c.905del (p.Gly302fs) Deletion Likely pathogenic 374230 rs1057518992 1:61824904-61824904 1:61359232-61359232
23 PDGFRA NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp) SNV Uncertain significance 39616 rs397514549 4:55136880-55136880 4:54270713-54270713
24 PDGFRA NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala) SNV Uncertain significance 39617 rs181854060 4:55140770-55140770 4:54274603-54274603
25 PDGFRA NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met) SNV Uncertain significance 39618 rs397514550 4:55161324-55161324 4:54295157-54295157
26 TBX22 NM_001109878.2(TBX22):c.448A>C (p.Lys150Gln) SNV Uncertain significance 523404 rs1156605251 X:79279653-79279653 X:80024154-80024154
27 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
28 DNAH11 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) SNV Uncertain significance 198347 rs370932895 7:21856224-21856224 7:21816606-21816606
29 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247
30 INPP1 NM_001128928.2(INPP1):c.70del (p.Gln24fs) Deletion Uncertain significance 619168 rs1575788223 2:191224898-191224898 2:190360172-190360172
31 NDC1 NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr) SNV Uncertain significance 619169 rs1570193658 1:54266482-54266482 1:53800809-53800809
32 DEPDC5 NM_001242897.2(DEPDC5):c.2551G>A (p.Gly851Ser) SNV Uncertain significance 599003 rs1569084151 22:32239782-32239782 22:31843796-31843796
33 FANCD2 NM_173472.2(FANCD2OS):c.43+5429_43+5434del Deletion Uncertain significance 342380 rs766605179 3:10140448-10140453 3:10098764-10098769
34 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV Uncertain significance 5302 rs34557412 17:16852187-16852187 17:16948873-16948873
35 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) SNV Uncertain significance 167818 rs142594314 1:116206600-116206600 1:115663979-115663979
36 MYO15A NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) SNV Likely benign 195313 rs200532919 17:18023568-18023568 17:18120254-18120254
37 NEK9 NM_033116.6(NEK9):c.1505A>G (p.Tyr502Cys) SNV Likely benign 619170 rs534245464 14:75573228-75573228 14:75106525-75106525
38 TENM4 NM_001098816.3(TENM4):c.1556G>A (p.Gly519Glu) SNV Likely benign 619134 rs1591072819 11:78565274-78565274 11:78854229-78854229

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
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
10.92 SMARCA4 MSX1 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 chromatin GO:0000785 9.17 TBX22 SMARCA4 SATB2 NSD1 NIPBL MSX1

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

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.76 SMARCA4 SETD5 SATB2 NSD1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.7 WFS1 TBX22 SMARCA4 SATB2 NSD1 NIPBL
3 sensory perception of sound GO:0007605 9.65 WFS1 NIPBL COL11A1
4 cartilage development GO:0051216 9.5 SATB2 MSX1 COL11A1
5 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.43 WFS1 TMCO1
6 roof of mouth development GO:0060021 9.43 SATB2 MSX1 IRF6
7 positive regulation of neuron migration GO:2001224 9.4 NIPBL FLNA
8 ER overload response GO:0006983 9.37 WFS1 TMCO1
9 GPI anchor metabolic process GO:0006505 8.96 PIGW PGAP3
10 heart morphogenesis GO:0003007 8.92 NIPBL MSX1 FLNA COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 histone methyltransferase activity (H3-K36 specific) GO:0046975 8.62 SETD5 NSD1
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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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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