CPI
MCID: CLF027
MIFTS: 63

Cleft Palate, Isolated (CPI)

Categories: Oral diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Cleft Palate, Isolated

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:



Summaries for Cleft Palate, Isolated

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 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate and cleft soft palate, and has symptoms including seizures An important gene associated with Cleft Palate, Isolated is SATB2 (SATB Homeobox 2), and among its related pathways/superpathways are Neural Crest Differentiation and Hypothetical Craniofacial Development Pathway. The drugs Codeine and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and testes, and related phenotypes are cleft palate 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...

Related Diseases for Cleft Palate, Isolated

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

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 34.9 FOXE1 MSX1 TGFB3
2 cleft soft palate 34.3 TBX22 UBB
3 cleft lip/palate 33.6 ARHGAP29 BMP4 FOXE1 IRF6 MSX1 MTHFR
4 cleft lip 32.7 ARHGAP29 BMP4 IRF6 MSX1 MTHFR NECTIN1
5 isolated cleft lip 31.2 FOXE1 IRF6 MSX1 NECTIN1
6 cleft palate with or without ankyloglossia, x-linked 12.5
7 omphalocele-cleft palate syndrome, lethal 12.4
8 microtia, hearing impairment, and cleft palate 12.3
9 hydrocephalus-cleft palate-joint contractures syndrome 12.3
10 cleft palate, psychomotor retardation, and distinctive facial features 12.3
11 cleft palate, cardiac defects, and mental retardation 12.2
12 submucosal cleft palate 12.2
13 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.2
14 cleft palate x-linked 12.2
15 cleft palate short stature vertebral anomalies 12.2
16 mesomelic dwarfism cleft palate camptodactyly 12.2
17 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.1
18 syngnathia cleft palate 12.1
19 dominant cleft palate 12.0
20 ankyloblepharon filiforme adnatum and cleft palate 12.0
21 palant cleft palate syndrome 12.0
22 acromegaloid features, overgrowth, cleft palate, and hernia 12.0
23 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.0
24 native american myopathy 12.0
25 ectrodactyly-cleft palate syndrome 12.0
26 cleft palate, deafness, and oligodontia 12.0
27 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.0
28 dysmorphism cleft palate loose skin 12.0
29 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 11.9
30 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 11.9
31 anophthalmia cleft palate micrognathia 11.9
32 cleft palate cardiac defect ectrodactyly 11.9
33 cleft palate colobomata radial synostosis deafness 11.9
34 cleft palate heart disease polydactyly absent tibia 11.9
35 cleft palate stapes fixation oligodontia 11.9
36 cleft palate, cardiac defects, and intellectual disability 11.9
37 craniosynostosis arthrogryposis cleft palate 11.9
38 cystic hygroma lethal cleft palate 11.9
39 hirschsprung microcephaly cleft palate 11.9
40 short limbs subluxed knees cleft palate 11.9
41 short stature monodactylous ectrodactyly cleft palate 11.9
42 microcephaly-cleft palate-abnormal retinal pigmentation syndrome 11.9
43 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 11.9
44 arthrogryposis, distal, type 3 11.9
45 schilbach-rott syndrome 11.9
46 syngnathia 11.9
47 aceruloplasminemia 11.9
48 say syndrome 11.8
49 pierre robin syndrome 11.8
50 cerebral palsy 11.5

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



Diseases related to Cleft Palate, Isolated

Symptoms & Phenotypes for Cleft Palate, Isolated

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

UMLS symptoms related to Cleft Palate, Isolated:


seizures

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.39 IRF6 MSX1 NECTIN1 NIPBL SATB2 TBX22
2 growth/size/body region MP:0005378 10.36 TGFB3 ARHGAP29 BMP4 COL11A2 COL2A1 FLNA
3 digestive/alimentary MP:0005381 10.27 IRF6 MSX1 SATB2 TBX22 TCOF1 TGFB3
4 mortality/aging MP:0010768 10.27 MTHFR NECTIN1 NIPBL SATB2 TBX22 TCOF1
5 embryo MP:0005380 10.18 ARHGAP29 BMP4 COL2A1 GNB1 IRF6 MSX1
6 nervous system MP:0003631 10.06 MTHFR NIPBL SATB2 TCOF1 TGFB3 BMP4
7 hearing/vestibular/ear MP:0005377 10.03 BMP4 COL11A2 COL2A1 GABRB3 IRF6 MSX1
8 limbs/digits/tail MP:0005371 10.01 BMP4 COL2A1 IRF6 MSX1 MTHFR NIPBL
9 normal MP:0002873 9.86 BMP4 COL2A1 FLNA GABRB3 MSX1 NIPBL
10 respiratory system MP:0005388 9.81 MSX1 SATB2 TBX22 TCOF1 TGFB3 BMP4
11 skeleton MP:0005390 9.8 BMP4 COL11A2 COL2A1 FLNA GABRB3 IRF6
12 vision/eye MP:0005391 9.28 BMP4 COL2A1 FLNA MSX1 MTHFR NECTIN1

Drugs & Therapeutics for Cleft Palate, Isolated

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

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Codeine Approved, Illicit Phase 4 76-57-3 5284371
2
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2 113775-47-6 68602 5311068
5 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
6 Analgesics, Opioid Phase 4,Not Applicable
7 Antitussive Agents Phase 4
8 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Not Applicable
9 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
10 Narcotics Phase 4,Not Applicable
11 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Respiratory System Agents Phase 4
13 Antifibrinolytic Agents Phase 4
14 Coagulants Phase 4
15 Hemostatics Phase 4
16 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Not Applicable
17 Fibrin Tissue Adhesive Phase 4
18 Adrenergic Agents Phase 4,Phase 2
19 Adrenergic Agonists Phase 4,Phase 2
20 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
21 Adrenergic alpha-Agonists Phase 4,Phase 2
22 Hypnotics and Sedatives Phase 4,Phase 2
23 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
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
Epinephrine Approved, Vet_approved Phase 3,Not Applicable 51-43-4 5816
27
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
28
Racepinephrine Approved Phase 3,Not Applicable 329-65-7 838
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
31 Anesthetics Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
32 Anesthetics, Local Phase 2, Phase 3,Phase 3,Not Applicable
33 Hematinics Phase 3
34 Micronutrients Phase 3
35 Trace Elements Phase 3
36 Vitamin B Complex Phase 3
37 Vitamins Phase 3
38 Anti-Inflammatory Agents Phase 3
39 Anti-Inflammatory Agents, Non-Steroidal Phase 3
40 Antirheumatic Agents Phase 3
41 Cyclooxygenase Inhibitors Phase 3
42 Epinephryl borate Phase 3,Not Applicable
43 Ketorolac Tromethamine Phase 3
44 Pharmaceutical Solutions Phase 3,Phase 2
45 Folate Nutraceutical Phase 3
46 Vitamin B9 Nutraceutical Phase 3
47
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
48
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249
49
Sulbactam Approved Phase 2 68373-14-8
50 Sultamicillin Approved, Investigational Phase 2 76497-13-7

Interventional clinical trials:

(show top 50) (show all 76)
# 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 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 Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair Not yet recruiting NCT02915042 Phase 4 Dexmedetomidine;Placebo
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 Preventing Complications in Cleft Palate Repair With Antibiotics Completed NCT00760006 Phase 2 Unasyn
11 Cleft Palate Surgery and Speech Development Completed NCT00004639 Phase 2
12 Cleft Orthognathic Surgery Versus Distraction Osteogenesis - Which is Better? Completed NCT00930124 Phase 2
13 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
14 Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse? Completed NCT02350803 Phase 2
15 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
16 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
17 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
18 Suprazygomatic Block in Cleft Palate Surgery in Children Recruiting NCT03412474 Phase 2 Bupivacaine;Dexmedetomidine;paracetamol
19 Improvement of the Appearance of Cleft Lip Scars Using Botox Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
20 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
21 Furlow Palatoplasty With Tensor Tenopexy Active, not recruiting NCT01535131 Phase 2
22 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
23 IV Acetaminophen 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 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234 Not Applicable
26 3D Imaging of Hard and Soft Tissue in Orthognathic Surgery Unknown status NCT00285714 Not Applicable
27 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
28 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
29 Sleep and Behavior in Children With Cleft Palate Completed NCT01046591
30 Retrospective Study on the Outcome of Cleft Palate Repair: Comparing US Surgical and Ethicon Suture Materials Completed NCT00584272
31 Efficacy of Oral Versus Intravenous Acetaminophen for Primary Pediatric Cleft Palate Repair Completed NCT01500109 Not Applicable Oral acetaminophen;Ofirmev®;Opioid only
32 Acellular Dermal Matrix in Primary Palatoplasty Completed NCT01867632
33 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
34 Using of Acellular Dermal Matrix in Cleft Palatal Fistula and Compare With Use of Conchal Cartolage Completed NCT03170505
35 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
36 Pilot Study Evaluating Characteristic Closure Patterns of the Normal Velopharyngeal Portal Completed NCT00773994 Not Applicable
37 Tympanometric Analysis in Cleft Palate Completed NCT01820689 Not Applicable
38 Primary Palatoplasty in Pediatric Patients - A Retrospective Review of Surgical Outcomes Completed NCT01380171
39 Evaluation of Facial Growth in Two Primary Protocols Used in the Surgical Treatment of Unilateral Cleft Lip and Palate Patients Completed NCT02329509 Not Applicable
40 Svangerskap, Arv, og Miljo (Pregnancy, Heredity and Environment) Completed NCT00340977
41 Articulation and Phonology in Children With Unilateral Cleft Lip and Palate Completed NCT00829101
42 FaceBase Biorepository Completed NCT01252264
43 Systematic Pediatric Care for Oral Clefts - South America Completed NCT00097149 Not Applicable
44 A Study to Examine the Relationship Between Sleep Apnea and Cleft Lip/Palate Completed NCT00156442
45 Effect Of Combination of Morphine+Fentanyl on Emergence Delirium in Patients of Cleft Lip and Palate Repair Completed NCT03010540 Not Applicable MORPHINE PLUS FENTANYL;Fentanyl
46 Child's Adipose Cells: Capacity of Tissue Regeneration Completed NCT02779205 Not Applicable
47 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
48 Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly Completed NCT00005016
49 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
50 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732

Search NIH Clinical Center for Cleft Palate, Isolated

Cochrane evidence based reviews: cleft palate

Genetic Tests for Cleft Palate, Isolated

Genetic tests related to Cleft Palate, Isolated:

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

Anatomical Context for Cleft Palate, Isolated

MalaCards organs/tissues related to Cleft Palate, Isolated:

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

Publications for Cleft Palate, Isolated

Articles related to Cleft Palate, Isolated:

(show top 50) (show all 1143)
# 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
MicroRNAs in Palatogenesis and Cleft Palate. ( 28420997 )
2017
19
Nucleotide variants of the NAT2 and EGF61 genes in patients in Northern China with nonsyndromic cleft lip with or without cleft palate. ( 28906376 )
2017
20
Transmission analysis of TGFB1 gene polymorphisms in non-syndromic cleft lip with or without cleft palate. ( 28802359 )
2017
21
De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment. ( 27031267 )
2017
22
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. ( 28211976 )
2017
23
Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case. ( 28246561 )
2017
24
Association of single nucleotide polymorphisms in AXIN2, BMP4, and IRF6 with Non-Syndromic Cleft Lip with or without Cleft Palate in a sample of the southeast Iranian population. ( 29211286 )
2017
25
The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population. ( 28947718 )
2017
26
Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate. ( 28771384 )
2017
27
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. ( 28425186 )
2017
28
What's New in Cleft Palate and Velopharyngeal Dysfunction Management? ( 28538580 )
2017
29
Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams-Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the Age of 5 to 24 Years. ( 28744380 )
2017
30
Impact of pharyngofixation in cleft palate repair surgery on the development of chronic adhesive otitis media. ( 28325168 )
2017
31
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. ( 28515470 )
2017
32
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate. ( 28029220 )
2017
33
Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population. ( 28151848 )
2017
34
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. ( 28054174 )
2017
35
ClinicopathologicA Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. ( 28676249 )
2017
36
Outcomes of an International Volunteer Surgical Project for Patients with Cleft Lip and/or Cleft Palate: A Mission in Developing Laos. ( 28949405 )
2017
37
Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population. ( 29030958 )
2017
38
Imputation of Orofacial Clefting Data Identifies Novel Risk Loci and Sheds Light on the Genetic Background of Cleft Lip A+ Cleft Palate and Cleft Palate Only. ( 28087736 )
2017
39
TGFA93 / SfaN1 gene variant and the risk factor of nonsyndromic cleft palate only among Indonesian patients. ( 28364787 )
2017
40
Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate. ( 28926086 )
2017
41
Involvement of RBP4 in alla89trans retinoic acid induced cleft palate. ( 28849085 )
2017
42
Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population. ( 28886940 )
2017
43
Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China. ( 28383424 )
2017
44
A pilot study: Screening target miRNAs in tissue of nonsyndromic cleft lip with or without cleft palate. ( 28565881 )
2017
45
BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate: A meta-analysis. ( 28767592 )
2017
46
Improving Surgeons' Comfort With Prismatic Glasses During Cleft Palate Surgery: Preliminary Findings. ( 28431235 )
2017
47
Cystathionine I^-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations. ( 27535090 )
2016
48
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. ( 27018472 )
2016
49
Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate. ( 27604992 )
2016
50
Bone morphogenetic protein type I receptor inhibition induces cleft palate associated with micrognathia and cleft lower lip in mice. ( 27150428 )
2016

Variations for Cleft Palate, Isolated

ClinVar genetic disease variations for Cleft Palate, Isolated:

6
(show all 20)
# 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 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
6 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
7 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
8 46;XX;ins(5;6)(p13;p24p25)dn Translocation Pathogenic
9 NFIA NM_001145511.1(NFIA): c.881delG (p.Gly294Glufs) deletion Likely pathogenic rs1057518992 GRCh37 Chromosome 1, 61824905: 61824905
10 NFIA NM_001145511.1(NFIA): c.881delG (p.Gly294Glufs) deletion Likely pathogenic rs1057518992 GRCh38 Chromosome 1, 61359233: 61359233
11 SATB2 NM_001172509.1(SATB2): c.1375C> T (p.Arg459Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 200193432: 200193432
12 SATB2 NM_001172509.1(SATB2): c.1375C> T (p.Arg459Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 199328709: 199328709
13 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh37 Chromosome 1, 103377736: 103377753
14 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh38 Chromosome 1, 102912180: 102912197
15 SATB2 NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs) deletion Pathogenic GRCh38 Chromosome 2, 199308845: 199308846
16 SATB2 NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs) deletion Pathogenic GRCh37 Chromosome 2, 200173568: 200173569
17 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic GRCh38 Chromosome 5, 37058939: 37058939
18 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic GRCh37 Chromosome 5, 37059041: 37059041
19 TBX22 NM_001109878.1(TBX22): c.448A> C (p.Lys150Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 80024154: 80024154
20 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

Expression for Cleft Palate, Isolated

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

Pathways for Cleft Palate, Isolated

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

# Super pathways Score Top Affiliating Genes
1 11.27 BMP4 COL11A2 COL2A1 MSX1
2 9.7 ARHGAP29 IRF6 TGFB3

GO Terms for Cleft Palate, Isolated

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

(show all 24)
# 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 BMP signaling pathway GO:0030509 9.77 BMP4 MSX1 TGFB3
4 skeletal system development GO:0001501 9.76 BMP4 COL11A2 COL2A1 TCOF1
5 cell development GO:0048468 9.71 BMP4 IRF6 TGFB3
6 sensory perception of sound GO:0007605 9.71 COL11A2 COL2A1 GABRB3 NIPBL
7 negative regulation of transcription by RNA polymerase II GO:0000122 9.7 BMP4 FOXE1 MSX1 NIPBL SATB2 TBX22
8 heart morphogenesis GO:0003007 9.67 COL2A1 MSX1 NIPBL
9 camera-type eye morphogenesis GO:0048593 9.62 BMP4 NECTIN1
10 tissue homeostasis GO:0001894 9.61 COL11A2 COL2A1
11 positive regulation of ossification GO:0045778 9.61 BMP4 NIPBL
12 chondrocyte differentiation GO:0002062 9.61 BMP4 COL11A2 COL2A1
13 positive regulation of neuron migration GO:2001224 9.58 FLNA NIPBL
14 positive regulation of SMAD protein signal transduction GO:0060391 9.58 BMP4 TGFB3
15 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.57 BMP4 MSX1
16 embryonic skeletal joint morphogenesis GO:0060272 9.56 BMP4 COL2A1
17 odontogenesis GO:0042476 9.54 BMP4 MSX1 TGFB3
18 BMP signaling pathway involved in heart development GO:0061312 9.51 BMP4 MSX1
19 soft palate development GO:0060023 9.48 COL11A2 FOXE1
20 face morphogenesis GO:0060325 9.43 MSX1 NIPBL TGFB3
21 cartilage development GO:0051216 9.35 BMP4 COL11A2 COL2A1 MSX1 SATB2
22 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.32 MSX1 UBB
23 roof of mouth development GO:0060021 9.17 COL11A2 COL2A1 FOXE1 GABRB3 MSX1 SATB2
24 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 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 BMP receptor binding GO:0070700 8.96 BMP4 TGFB3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL11A2 COL2A1

Sources for Cleft Palate, Isolated

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
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