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CPI
MCID: CLF027
MIFTS: 67

Cleft Palate, Isolated (CPI)

Categories: Mental diseases, Neuronal diseases, Oral 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 73
Cleft Palate 57 12 76 29 55 6 44 15 73
Isolated Cleft Palate 12 15
Uranostaphyloschisis 12 73
Cpi 57 75
Cp 57 75
Cleft Palate Isolated with Mental Retardation 75
Cleft Palate, Isolated ) 40
Cleft Palate Isolated 75
Cleft Palate; Cp 57
Palatoschisis 12
Cleft Velum 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
1 patient reported (last curated may 2012)
see also chromosome 2q32-q33 deletion syndrome


HPO:

32
cleft palate, isolated:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Anatomical: Oral diseases Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33


Sources

Summaries for Cleft Palate, Isolated

About this section
UniProtKB/Swiss-Prot : 75 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 IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Crest Differentiation. The drugs Dexmedetomidine and Codeine have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and skin, and related phenotypes are seizures and gingival overgrowth

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 : 76 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 666)
# Related Disease Score Top Affiliating Genes
1 cleft palate with or without ankyloglossia, x-linked 34.6 TBX22 MSX1 BMP4
2 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 34.1 TGFB3 MSX1 FOXE1
3 syngnathia 33.7 SATB2 MSX1 IRF6 BMP4
4 cleft lip/palate 33.4 TBX22 NECTIN1 MTHFR MSX1 IRF6 FOXE1
5 abruzzo-erickson syndrome 33.4 TCOF1 TBX22
6 cleft soft palate 32.8 UBB TBX22 COL11A2
7 cleft lip 32.8 VAX1 TGFB3 NECTIN1 MTHFR MSX1 IRF6
8 otospondylomegaepiphyseal dysplasia, autosomal recessive 32.2 COL2A1 COL11A2
9 otospondylomegaepiphyseal dysplasia, autosomal dominant 32.1 COL2A1 COL11A2
10 orofacial cleft 32.0 VAX1 TMEM54 TGFB3 TBX22 SATB2 NECTIN1
11 simpson-golabi-behmel syndrome, type 1 31.6 TBX22 COL2A1
12 cleft lip and alveolus 31.4 NECTIN1 MSX1 IRF6
13 hard palate cancer 30.9 TMEM54 TBX22 NANS MSX1
14 choanal atresia, posterior 30.6 SATB2 FOXE1
15 isolated cleft lip 30.3 NECTIN1 MSX1 IRF6 FOXE1
16 tooth size 30.2 MSX1 BMP4
17 coloboma of macula 30.2 VAX1 TBX22 SATB2
18 tooth agenesis 30.2 TMEM54 TGFB3 SATB2 MSX1 IRF6 BMP4
19 omphalocele-cleft palate syndrome, lethal 12.6
20 microtia, hearing impairment, and cleft palate 12.5
21 hydrocephalus-cleft palate-joint contractures syndrome 12.5
22 cleft palate, psychomotor retardation, and distinctive facial features 12.4
23 cleft palate, cardiac defects, and mental retardation 12.4
24 submucosal cleft palate 12.4
25 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.4
26 cleft palate x-linked 12.3
27 cleft palate short stature vertebral anomalies 12.3
28 mesomelic dwarfism cleft palate camptodactyly 12.3
29 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.3
30 syngnathia cleft palate 12.3
31 ankyloblepharon filiforme adnatum and cleft palate 12.2
32 dominant cleft palate 12.2
33 palant cleft palate syndrome 12.2
34 acromegaloid features, overgrowth, cleft palate, and hernia 12.2
35 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.2
36 ectrodactyly-cleft palate syndrome 12.1
37 cleft palate, deafness, and oligodontia 12.1
38 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.1
39 dysmorphism cleft palate loose skin 12.1
40 myopathy, congenital, bailey-bloch 12.1
41 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 12.1
42 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.1
43 anophthalmia cleft palate micrognathia 12.1
44 cleft palate cardiac defect ectrodactyly 12.1
45 cleft palate colobomata radial synostosis deafness 12.1
46 cleft palate heart disease polydactyly absent tibia 12.1
47 cleft palate stapes fixation oligodontia 12.1
48 cleft palate, cardiac defects, and intellectual disability 12.1
49 craniosynostosis arthrogryposis cleft palate 12.1
50 hirschsprung microcephaly cleft palate 12.1

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



Diseases related to Cleft Palate, Isolated
Sources

Symptoms & Phenotypes for Cleft Palate, Isolated

About this section

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
mental retardation, profound

Head And Neck Teeth:
anterior-pointing incisors
anterior overbite

Neurologic Behavioral Psychiatric Manifestations:
jovial personality

Head And Neck Mouth:
cleft palate, midline
gingival hyperplasia

Skeletal Skull:
mandibular hypoplasia, asymmetric
short zygomatic arches
flattened mandibular condylar heads


Clinical features from OMIM:

119540

Human phenotypes related to Cleft Palate, Isolated:

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

UMLS symptoms related to Cleft Palate, Isolated:


seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.05 FLNA MSX1
2 Decreased viability GR00106-A-0 10.05 UBB
3 Decreased viability GR00240-S-1 10.05 TMEM54
4 Decreased viability GR00381-A-1 10.05 UBB
5 Decreased viability GR00402-S-2 10.05 BMP4 COL11A2 COL2A1 FLNA FOXE1 GABRB3
6 no effect GR00402-S-1 9.62 BMP4 COL11A2 COL2A1 FLNA FOXE1 GABRB3

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.39 BMP4 COL11A2 COL2A1 FLNA FOXE1 GABRB3
2 growth/size/body region MP:0005378 10.36 BMP4 COL11A2 COL2A1 FLNA FOXE1 GABRB3
3 digestive/alimentary MP:0005381 10.27 BMP4 COL2A1 FLNA FOXE1 GABRB3 IRF6
4 mortality/aging MP:0010768 10.27 BMP4 COL2A1 FLNA FOXE1 GABRB3 GNB1
5 cellular MP:0005384 10.26 BMP4 COL2A1 FLNA GNB1 IRF6 NIPBL
6 embryo MP:0005380 10.13 BMP4 COL2A1 GNB1 IRF6 MSX1 NIPBL
7 nervous system MP:0003631 10.1 BMP4 COL2A1 FLNA GABRB3 GNB1 MSX1
8 hearing/vestibular/ear MP:0005377 10.03 BMP4 COL11A2 COL2A1 GABRB3 IRF6 MSX1
9 limbs/digits/tail MP:0005371 10.01 BMP4 COL2A1 IRF6 MSX1 MTHFR NIPBL
10 normal MP:0002873 9.86 BMP4 COL2A1 FLNA GABRB3 MSX1 NIPBL
11 skeleton MP:0005390 9.83 BMP4 COL11A2 COL2A1 FLNA GABRB3 IRF6
12 respiratory system MP:0005388 9.81 BMP4 COL2A1 FLNA GNB1 MSX1 SATB2
13 vision/eye MP:0005391 9.32 BMP4 COL2A1 FLNA MSX1 MTHFR NECTIN1
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 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2 113775-47-6 68602 5311068
2
Codeine Approved, Illicit Phase 4 76-57-3 5284371
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
4
Tranexamic Acid Approved Phase 4 1197-18-8 5526
5 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Not Applicable
6 Adrenergic Agents Phase 4,Phase 2
7 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
8 Hypnotics and Sedatives Phase 4,Phase 2
9 Adrenergic alpha-Agonists Phase 4,Phase 2
10 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
11 Adrenergic Agonists Phase 4,Phase 2
12 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
13 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
14 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
15 Coagulants Phase 4
16 Fibrin Tissue Adhesive Phase 4
17 Hemostatics Phase 4
18 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
19 Narcotics Phase 4,Not Applicable
20 Analgesics, Opioid Phase 4,Not Applicable
21 Respiratory System Agents Phase 4
22 Antitussive Agents Phase 4
23 Antifibrinolytic Agents Phase 4
24
Bupivacaine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 2180-92-9, 38396-39-3 2474
25
Levobupivacaine Approved, Investigational Phase 2, Phase 3 27262-47-1 92253
26
leucovorin Approved Phase 3,Not Applicable 58-05-9 6006 143
27
Racepinephrine Approved Phase 3,Not Applicable 329-65-7 838
28
Ketorolac Approved Phase 3 66635-83-4, 74103-06-3 3826
29
Epinephrine Approved, Vet_approved Phase 3,Not Applicable 51-43-4 5816
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
31 Anesthetics Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
32 Anesthetics, Local Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1
33 Vitamin B Complex Phase 3,Not Applicable
34 Vitamin B9 Phase 3,Not Applicable
35 Vitamins Phase 3,Not Applicable
36 Hematinics Phase 3,Not Applicable
37 Micronutrients Phase 3,Not Applicable
38 Trace Elements Phase 3,Not Applicable
39 Folate Phase 3,Not Applicable
40 Ketorolac Tromethamine Phase 3
41 Antirheumatic Agents Phase 3
42 Anti-Inflammatory Agents Phase 3,Early Phase 1
43 Anti-Inflammatory Agents, Non-Steroidal Phase 3
44 Pharmaceutical Solutions Phase 3,Phase 2,Early Phase 1
45 Cyclooxygenase Inhibitors Phase 3
46 Epinephryl borate Phase 3,Not Applicable
47
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
48
Acetaminophen Approved Phase 2,Not Applicable 103-90-2 1983
49
Sultamicillin Approved, Investigational Phase 2 76497-13-7
50
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249

Interventional clinical trials:

(show top 50) (show all 86)
# Name Status NCT ID Phase Drugs
1 Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair Unknown status NCT02915042 Phase 4 Dexmedetomidine;Placebo
2 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4 Tisseel
3 Double Blind Randomized Study Into the Efficacy of Codeine Phosphate Analgesia After Cleft Palate Repair in Infants Completed NCT00386269 Phase 4 Codeine Phosphate Analgesia
4 Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty Completed NCT02422056 Phase 4 Tranexamic Acid;Saline
5 Comparative Study Between Levobupivacaine and Bupivacaine for Nerve Block During Pediatric Primary Cleft Palate Surgery Completed NCT02923869 Phase 2, Phase 3 Levobupivacaine;Bupivacaine
6 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
7 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
8 A Comparison of Bupivacaine and Ketorolac for Postoperative Analgesia After Iliac Crest Bone Harvesting Completed NCT00405262 Phase 3 Ketorolac;Bupivacaine;ketorolac + bupivacaine
9 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
10 Suprazygomatic Block in Cleft Palate Surgery in Children Completed NCT03412474 Phase 2 Bupivacaine;Dexmedetomidine;paracetamol
11 Preventing Complications in Cleft Palate Repair With Antibiotics Completed NCT00760006 Phase 2 Unasyn
12 Furlow Palatoplasty With Tensor Tenopexy Active, not recruiting NCT01535131 Phase 2
13 Cleft Palate Surgery and Speech Development Completed NCT00004639 Phase 2
14 Cleft Orthognathic Surgery Versus Distraction Osteogenesis - Which is Better? Completed NCT00930124 Phase 2
15 IV Acetaminophen in Children Undergoing Palatoplasty Withdrawn NCT01760330 Phase 2 IV acetaminophen;Placebo
16 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
17 Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse? Completed NCT02350803 Phase 2
18 Improvement of the Appearance of Cleft Lip Scars Using Botox Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
19 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
20 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
21 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
22 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
23 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
24 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
25 An Investigation for the Optimal Timing of a Cleft Palate Repair Unknown status NCT00779961 Early Phase 1
26 Validation of a Production Method of Stem Cell Isolated From the Nasal Cavity for an Innovative Cell Therapy of Cleft Palate Unknown status NCT02900014 Not Applicable
27 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234 Not Applicable
28 3D Imaging of Hard and Soft Tissue in Orthognathic Surgery Unknown status NCT00285714 Not Applicable
29 Quantification, Analysis and Simulation of Facial Mimics Movements Unknown status NCT02002572 Not Applicable
30 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
31 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
32 The Role of Antibiotic Prophylaxis in Cleft Palate and Velopharyngeal Insufficiency Repair Withdrawn NCT02688634 Amoxicillin
33 Timing of Primary Surgery for Cleft Palate Active, not recruiting NCT00993551 Not Applicable
34 Low Level Laser in Isolated Cleft Palate Repair Versus Surgical Correction Without LLL in Healing Process Not yet recruiting NCT03688737 Not Applicable
35 Sleep and Behavior in Children With Cleft Palate Completed NCT01046591
36 Middle Ear Pressure Disregulation in Cleft Palate Patients Active, not recruiting NCT00423072
37 Retrospective Study on the Outcome of Cleft Palate Repair: Comparing US Surgical and Ethicon Suture Materials Completed NCT00584272
38 Suprazygomatic Nerve Block vs Surgical Site Infiltration in Cleft Palate Repair Active, not recruiting NCT03799068 Not Applicable
39 Efficacy of Oral Versus Intravenous Acetaminophen for Primary Pediatric Cleft Palate Repair Completed NCT01500109 Not Applicable Oral acetaminophen;Ofirmev®;Opioid only
40 Improving Outcomes in Cleft Palate Surgery Active, not recruiting NCT02583100 Not Applicable
41 Evaluation of the Incidence of Palatal Fistula in Furlow Double-opposing Z-plasty vs. Two-flap Palatoplasty for Cleft Palate Repair Not yet recruiting NCT03055637 Not Applicable
42 Evaluation of Trigeminal Nerve Blockade Enrolling by invitation NCT03632044 Early Phase 1 Ropivacaine
43 Otologic and Rhinologic Outcomes in Children With Clef Palate Recruiting NCT03708406
44 Acellular Dermal Matrix in Primary Palatoplasty Completed NCT01867632
45 Improving Informed Consent for Cleft Palate Repair Recruiting NCT02595307 Not Applicable
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 Using of Acellular Dermal Matrix in Cleft Palatal Fistula and Compare With Use of Conchal Cartolage Completed NCT03170505
48 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
49 Pilot Study Evaluating Characteristic Closure Patterns of the Normal Velopharyngeal Portal Completed NCT00773994 Not Applicable
50 Tympanometric Analysis in Cleft Palate Completed NCT01820689 Not Applicable

Search NIH Clinical Center for Cleft Palate, Isolated

Cochrane evidence based reviews: cleft palate

Sources

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 UBB
2 Cleft Palate 29
Sources

Anatomical Context for Cleft Palate, Isolated

About this section

MalaCards organs/tissues related to Cleft Palate, Isolated:

41
Bone, Tongue, Skin, Heart, Brain, Lung, Liver
Sources

Publications for Cleft Palate, Isolated

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Articles related to Cleft Palate, Isolated:

(show top 50) (show all 1731)
# Title Authors Year
1
Identification of key genes in cleft lip with or without cleft palate regulated by miR-199a-5p. ( 29958595 )
2018
2
Nasal Glial Heterotopia with Cleft Palate. ( 29386764 )
2018
3
Internationally adopted children with cleft lip and/or cleft palate: Middle ear findings and hearing during childhood. ( 29958613 )
2018
4
A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in <i>ESRRG</i>. ( 29535761 )
2018
5
Middle-ear disease in children with cleft palate. ( 29764722 )
2018
6
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family. ( 29150894 )
2018
7
Profiles of vocal development in Korean children with and without cleft palate. ( 28605211 )
2018
8
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome. ( 29440852 )
2018
9
Otolaryngology Service Usage in Children With Cleft Palate. ( 29360407 )
2018
10
Association of WNT Pathway Genes With Nonsyndromic Cleft Lip With or Without Cleft Palate. ( 29437498 )
2018
11
Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate. ( 29403086 )
2018
12
The Impact of Velopharyngeal Surgery on the Polysomnographic Parameters After Cleft Palate Repair. ( 29381603 )
2018
13
Effectiveness of Nasoalveolar Molding in the Unilateral Cleft Lip and Cleft Palate. ( 29944571 )
2018
14
Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate. ( 29374328 )
2018
15
Association Between Cleft Lip and/or Cleft Palate and Family History of Cancer: A Case-Control Study. ( 29389703 )
2018
16
Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate. ( 28886269 )
2018
17
Wieacker-Wolff syndrome with associated cleft palate in a female case. ( 29150902 )
2018
18
Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients. ( 30550448 )
2018
19
Synchronous complex Chiari malformation and cleft palate-a case-based review. ( 30128838 )
2018
20
A novel IRF6 mutation causing non-syndromic cleft lip with or without cleft palate in a pedigree. ( 30053123 )
2018
21
Association of long interspersed nucleotide element-1 and interferon regulatory factor 6 methylation changes with nonsyndromic cleft lip with or without cleft palate. ( 30153397 )
2018
22
Three-dimensional imaging methods to quantify soft and hard tissues change after cleft-related treatment during growth in patients with cleft lip and/or cleft palate: a systematic review. ( 30160533 )
2018
23
Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population. ( 30240501 )
2018
24
Common polymorphism in the glycine N-methyltransferase gene as a novel risk factor for cleft lip with or without cleft palate. ( 30318092 )
2018
25
Association of the WNT3 polymorphisms and non-syndromic cleft lip with or without cleft palate: evidence from a meta-analysis. ( 30355643 )
2018
26
Understanding the participation of GREM1 polymorphisms in nonsyndromic cleft lip with or without cleft palate in the Brazilian population. ( 30402937 )
2018
27
Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate. ( 30411541 )
2018
28
Interaction between interferon regulatory factor 6 and glycine receptor beta shows a protective effect on developing nonsyndromic cleft lip with or without cleft palate in the Han Chinese population. ( 30462859 )
2018
29
Speech in 5-Year-Olds With Cleft Palate With or Without Cleft Lip Treated With Primary Palatal Surgery With Muscle Reconstruction According to Sommerlad. ( 29613839 )
2018
30
The impact of nonsyndromic cleft lip with or without cleft palate on oral health-related quality of life. ( 29641750 )
2018
31
Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate. ( 29688589 )
2018
32
Gene-gene interaction for nonsyndromic cleft lip with or without cleft palate in Chilean case-parent trios. ( 29694940 )
2018
33
Presurgical Nasal Molding With a Nasal Spring in Patients With Mild-to-Moderate Nasal Deformity With Incomplete Unilateral Cleft Lip With or Without Cleft Palate. ( 29746155 )
2018
34
Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study. ( 29802056 )
2018
35
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. ( 29805042 )
2018
36
Association between BMP4 gene polymorphisms and cleft lip with or without cleft palate in a population from South China. ( 29860186 )
2018
37
Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes. ( 29899370 )
2018
38
Association of EPHA3 Gene Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate. ( 29932736 )
2018
39
Associations Between MTR A2756G, MTRR A66G, and TCN2 C776G Polymorphisms and Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate: A Meta-Analysis. ( 30004262 )
2018
40
Two Methods of Cleft Palate Repair in Patients With Complete Unilateral Cleft Lip and Palate. ( 30015742 )
2018
41
International volunteer surgical project for cleft lip/cleft palate in Laos. ( 29232008 )
2018
42
Plasma zinc levels in Ecuadorian mothers of infants with nonsyndromic cleft lip with or without cleft palate: A case series. ( 29316356 )
2018
43
Gene-gene interaction between MSX1 and TP63 in Asian case-parent trios with nonsyndromic cleft lip with or without cleft palate. ( 29341488 )
2018
44
Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate. ( 29356097 )
2018
45
Development and Evaluation of a Blog about Cleft Lip and Cleft Palate and Hearing. ( 29371900 )
2018
46
CPAP with Resuscitation Mask in a Neonate with Cleft Lip and Cleft Palate. ( 29457206 )
2018
47
Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico. ( 29457660 )
2018
48
2p24.2 (rs7552) is a susceptibility locus for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. ( 29488623 )
2018
49
Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate. ( 29489415 )
2018
50
Association of SNP rs1867277 in FOXE1 Gene and Cleft Lip with or without Cleft Palate in a Han Chinese Population. ( 29509083 )
2018
Sources

Variations for Cleft Palate, Isolated

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ClinVar genetic disease variations for Cleft Palate, Isolated:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh37 Chromosome 1, 209974743: 209974743
2 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh38 Chromosome 1, 209801398: 209801398
3 FLNA NM_001110556.1(FLNA): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs28935469 GRCh37 Chromosome X, 153596212: 153596212
4 FLNA NM_001110556.1(FLNA): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs28935469 GRCh38 Chromosome X, 154367844: 154367844
5 PDGFRA NM_006206.5(PDGFRA): c.1202C> A (p.Ala401Asp) single nucleotide variant Likely benign rs397514549 GRCh37 Chromosome 4, 55136880: 55136880
6 PDGFRA NM_006206.5(PDGFRA): c.1202C> A (p.Ala401Asp) single nucleotide variant Likely benign rs397514549 GRCh38 Chromosome 4, 54270713: 54270713
7 PDGFRA NM_006206.5(PDGFRA): c.1631T> C (p.Val544Ala) single nucleotide variant Likely benign rs181854060 GRCh37 Chromosome 4, 55140770: 55140770
8 PDGFRA NM_006206.5(PDGFRA): c.1631T> C (p.Val544Ala) single nucleotide variant Likely benign rs181854060 GRCh38 Chromosome 4, 54274603: 54274603
9 PDGFRA NM_006206.5(PDGFRA): c.3155C> T (p.Thr1052Met) single nucleotide variant Uncertain significance rs397514550 GRCh37 Chromosome 4, 55161324: 55161324
10 PDGFRA NM_006206.5(PDGFRA): c.3155C> T (p.Thr1052Met) single nucleotide variant Uncertain significance rs397514550 GRCh38 Chromosome 4, 54295157: 54295157
11 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
12 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
13 NFIA NM_001145511.1(NFIA): c.881delG (p.Gly294Glufs) deletion Likely pathogenic rs1057518992 GRCh37 Chromosome 1, 61824905: 61824905
14 NFIA NM_001145511.1(NFIA): c.881delG (p.Gly294Glufs) deletion Likely pathogenic rs1057518992 GRCh38 Chromosome 1, 61359233: 61359233
15 SATB2 NM_001172509.1(SATB2): c.1375C> T (p.Arg459Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 200193432: 200193432
16 SATB2 NM_001172509.1(SATB2): c.1375C> T (p.Arg459Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 199328709: 199328709
17 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh37 Chromosome 1, 103377736: 103377753
18 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh38 Chromosome 1, 102912180: 102912197
19 SATB2 NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs) deletion Pathogenic GRCh37 Chromosome 2, 200173568: 200173569
20 SATB2 NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs) deletion Pathogenic GRCh38 Chromosome 2, 199308845: 199308846
21 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic GRCh38 Chromosome 5, 37058939: 37058939
22 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic GRCh37 Chromosome 5, 37059041: 37059041
23 TBX22 NM_001109878.1(TBX22): c.448A> C (p.Lys150Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 80024154: 80024154
24 TBX22 NM_001109878.1(TBX22): c.448A> C (p.Lys150Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 79279653: 79279653

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
Sources

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 65
11.56 BMP4 IRF6 MSX1
2
Neural Crest Differentiation 1
10.93 BMP4 COL11A2 COL2A1 MSX1
3
G-protein signaling_Rap2B regulation pathway 22
10.46 BMP4 COL11A2 COL2A1 GNB1 TGFB3
4
Hypothetical Craniofacial Development Pathway 1
9.86 IRF6 TGFB3
Sources

GO Terms for Cleft Palate, Isolated

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.99 BMP4 FOXE1 MSX1 NIPBL TBX22
2 regulation of gene expression GO:0010468 9.85 BMP4 COL2A1 NIPBL SATB2
3 skeletal system development GO:0001501 9.76 BMP4 COL11A2 COL2A1 TCOF1
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.76 BMP4 FOXE1 MSX1 NIPBL SATB2 TBX22
5 cell development GO:0048468 9.7 BMP4 IRF6 TGFB3
6 heart morphogenesis GO:0003007 9.67 COL2A1 MSX1 NIPBL
7 sensory perception of sound GO:0007605 9.67 COL11A2 COL2A1 GABRB3 NIPBL
8 camera-type eye morphogenesis GO:0048593 9.61 BMP4 NECTIN1
9 tissue homeostasis GO:0001894 9.61 COL11A2 COL2A1
10 positive regulation of neuron migration GO:2001224 9.6 FLNA NIPBL
11 positive regulation of ossification GO:0045778 9.58 BMP4 NIPBL
12 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.58 BMP4 MSX1
13 chondrocyte differentiation GO:0002062 9.58 BMP4 COL11A2 COL2A1
14 positive regulation of SMAD protein signal transduction GO:0060391 9.57 BMP4 TGFB3
15 embryonic skeletal joint morphogenesis GO:0060272 9.56 BMP4 COL2A1
16 BMP signaling pathway involved in heart development GO:0061312 9.51 BMP4 MSX1
17 odontogenesis GO:0042476 9.5 BMP4 MSX1 TGFB3
18 soft palate development GO:0060023 9.48 COL11A2 FOXE1
19 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.43 MSX1 UBB
20 face morphogenesis GO:0060325 9.43 MSX1 NIPBL TGFB3
21 cartilage development GO:0051216 9.35 BMP4 COL11A2 COL2A1 MSX1 SATB2
22 roof of mouth development GO:0060021 9.17 COL11A2 COL2A1 FOXE1 GABRB3 MSX1 SATB2
23 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 BMP4 IRF6 MSX1 NIPBL SATB2 TGFB3

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 9.35 FOXE1 IRF6 MSX1 SATB2 VAX1
2 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 8.8 MSX1 TBX22 VAX1
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Sources for Cleft Palate, Isolated

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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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