MCID: CLF027
MIFTS: 52

Cleft Palate, Isolated

Categories: Oral diseases, Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Cleft Palate, Isolated

MalaCards integrated aliases for Cleft Palate, Isolated:

Name: Cleft Palate, Isolated 54 24 29 69
Cleft Palate 12 29 52 42 14 69
Isolated Cleft Palate 12 14
Uranostaphyloschisis 12 69
Cleft Palate Isolated with Mental Retardation 71
Cleft Palate Isolated 71
Palatoschisis 12
Cleft Velum 12
Cpi 71
Cp 71

Characteristics:

OMIM:

54
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 : 71 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 ankyloglossia and cleft lip +/- cleft palate, and has symptoms including seizures, micrognathia and cleft palate. An important gene associated with Cleft Palate, Isolated is FLNA (Filamin A), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Crest Differentiation. The drugs Codeine and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are craniofacial and growth/size/body region

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 : 54
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)

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 112)
id Related Disease Score Top Affiliating Genes
1 cleft palate with ankyloglossia 12.4
2 cleft lip +/- cleft palate 12.3
3 microtia, hearing impairment, and cleft palate 12.2
4 omphalocele-cleft palate syndrome, lethal 12.2
5 cleft palate, psychomotor retardation, and distinctive facial features 12.2
6 hydrocephalus-cleft palate-joint contractures syndrome 12.1
7 cleft palate, cardiac defects, and mental retardation 12.1
8 submucosal cleft palate 12.1
9 hypotelorism cleft palate hypospadias 12.1
10 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.1
11 cleft palate short stature vertebral anomalies 12.1
12 mesomelic dwarfism cleft palate camptodactyly 12.0
13 syngnathia cleft palate 12.0
14 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.0
15 dominant cleft palate 11.9
16 cleft palate x-linked 11.9
17 ankyloblepharon filiforme adnatum and cleft palate 11.9
18 acromegaloid features, overgrowth, cleft palate, and hernia 11.9
19 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 11.9
20 native american myopathy 11.9
21 palant cleft palate syndrome 11.9
22 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 11.9
23 dysmorphism cleft palate loose skin 11.9
24 cleft palate, deafness, and oligodontia 11.9
25 cleft palate cardiac defect ectrodactyly 11.8
26 cleft palate colobomata radial synostosis deafness 11.8
27 cleft palate heart disease polydactyly absent tibia 11.8
28 short limbs subluxed knees cleft palate 11.8
29 short stature monodactylous ectrodactyly cleft palate 11.8
30 cleft palate stapes fixation oligodontia 11.8
31 craniosynostosis arthrogryposis cleft palate 11.8
32 cystic hygroma lethal cleft palate 11.8
33 microcephaly-cleft palate syndrome 11.8
34 blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 11.8
35 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 11.8
36 hirschsprung microcephaly cleft palate 11.8
37 anophthalmia cleft palate micrognathia 11.8
38 cleft soft palate 11.7
39 orofacial cleft 11 11.7
40 cleft lip/palate 11.7
41 syngnathia 11.7
42 say syndrome 11.7
43 mandibulofacial dysostosis, guion-almeida type 11.6
44 pierre robin syndrome 11.6
45 abruzzo-erickson syndrome 11.6
46 bamforth syndrome 11.6
47 bamforth-lazarus syndrome 11.6
48 arthrogryposis, distal, type 3 11.5
49 isolated pierre robin sequence 11.5
50 cleft lip/palate-ectodermal dysplasia syndrome 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:

54

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:
gingival hyperplasia
cleft palate, midline

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

UMLS symptoms related to Cleft Palate, Isolated:


seizures

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.37 IRF6 MSX1 NECTIN1 RARA SATB2 TBX22
2 growth/size/body region MP:0005378 10.34 BMP4 COL11A2 COL2A1 FLNA FOXE1 GABRB3
3 digestive/alimentary MP:0005381 10.29 BMP4 COL2A1 FLNA FOXE1 GABRB3 IRF6
4 mortality/aging MP:0010768 10.17 SATB2 TBX22 TCOF1 TGFB3 BMP4 COL2A1
5 embryo MP:0005380 10.06 SATB2 TCOF1 TGFB3 BMP4 COL2A1 IRF6
6 hearing/vestibular/ear MP:0005377 10.01 BMP4 COL11A2 COL2A1 GABRB3 IRF6 MSX1
7 limbs/digits/tail MP:0005371 9.97 BMP4 COL2A1 IRF6 MSX1 MTHFR RARA
8 respiratory system MP:0005388 9.81 BMP4 COL2A1 FLNA MSX1 RARA SATB2
9 normal MP:0002873 9.8 BMP4 COL2A1 FLNA GABRB3 RARA TBX22
10 skeleton MP:0005390 9.8 MSX1 MTHFR RARA SATB2 TBX22 TCOF1
11 vision/eye MP:0005391 9.32 TGFB3 BMP4 COL2A1 FLNA MSX1 MTHFR

Drugs & Therapeutics for Cleft Palate, Isolated

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

(show top 50) (show all 83)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Codeine Approved, Illicit Phase 4 76-57-3 5284371
2
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613 2171
5
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
6 Analgesics Phase 4,Phase 3,Phase 2
7 Analgesics, Opioid Phase 4
8 Antitussive Agents Phase 4
9 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
10 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
11 Narcotics Phase 4
12 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Respiratory System Agents Phase 4
14 Antifibrinolytic Agents Phase 4
15 Coagulants Phase 4
16 Hemostatics Phase 4
17 Anti-Bacterial Agents Phase 4,Phase 2
18 Antibiotics, Antitubercular Phase 4,Phase 2
19 Anti-Infective Agents Phase 4,Phase 2
20 Antitubercular Agents Phase 4,Phase 2
21 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
22 Fibrin Tissue Adhesive Phase 4
23 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
24 Adrenergic Agents Phase 4
25 Adrenergic Agonists Phase 4
26 Adrenergic alpha-2 Receptor Agonists Phase 4
27 Adrenergic alpha-Agonists Phase 4
28 Hypnotics and Sedatives Phase 4
29
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
30
Levobupivacaine Approved Phase 2, Phase 3 27262-47-1 92253
31
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
32
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
33 Racepinephrine Approved Phase 3
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
35
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
36 Anesthetics Phase 2, Phase 3, Phase 1
37 Anesthetics, Local Phase 2, Phase 3
38 Hematinics Phase 3
39 Micronutrients Phase 3
40 Trace Elements Phase 3
41 Vitamin B Complex Phase 3
42 Vitamins Phase 3
43 Anti-Inflammatory Agents Phase 3
44 Anti-Inflammatory Agents, Non-Steroidal Phase 3
45 Antirheumatic Agents Phase 3
46 Cyclooxygenase Inhibitors Phase 3
47 Epinephryl borate Phase 3
48 Ketorolac Tromethamine Phase 3
49 Pharmaceutical Solutions Phase 3,Phase 2
50 Folate Nutraceutical Phase 3

Interventional clinical trials:

(show top 50) (show all 69)

id 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 Role of Antibiotic Prophylaxis in Cleft Palate and Velopharyngeal Insufficiency Repair Recruiting NCT02688634 Phase 4 Amoxicillin
4 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4 Tisseel
5 Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair Not yet recruiting NCT02915042 Phase 4 Dexmedetomidine;Placebo
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 A Comparison of Bupivacaine and Ketorolac for Postoperative Analgesia After Iliac Crest Bone Harvesting Completed NCT00405262 Phase 3 Ketorolac;Bupivacaine;ketorolac + bupivacaine
10 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
11 Preoperative Antibiotics Study Completed NCT00760006 Phase 2 Unasyn
12 Cleft Palate Surgery and Speech Development Completed NCT00004639 Phase 2
13 Cleft Orthognathic Surgery Versus Distraction Osteogenesis - Which is Better? Completed NCT00930124 Phase 2
14 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
15 Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse? Completed NCT02350803 Phase 2
16 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
17 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
18 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
19 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
20 Furlow Palatoplasty With Tensor Tenopexy Recruiting NCT01535131 Phase 2
21 Improvement of the Appearance of Cleft Lip Scars Using Botox Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
22 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2 Ambrisentan
23 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
24 IV Acetaminophen in Children Undergoing Palatoplasty Withdrawn NCT01760330 Phase 2 IV acetaminophen;Placebo
25 An Investigation for the Optimal Timing of a Cleft Palate Repair Unknown status NCT00779961 Early Phase 1
26 FaceBase Biorepository Unknown status NCT01252264
27 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234
28 3D Imaging of Hard and Soft Tissue in Orthognathic Surgery Unknown status NCT00285714
29 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
30 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
31 Sleep and Behavior in Children With Cleft Palate Completed NCT01046591
32 Retrospective Study on the Outcome of Cleft Palate Repair: Comparing US Surgical and Ethicon Suture Materials Completed NCT00584272
33 Efficacy of Oral Versus Intravenous Acetaminophen for Primary Pediatric Cleft Palate Repair Completed NCT01500109 Oral acetaminophen;Ofirmev®;Opioid only
34 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
35 Acellular Dermal Matrix in Primary Palatoplasty Completed NCT01867632
36 Using of Acellular Dermal Matrix in Cleft Palatal Fistula and Compare With Use of Conchal Cartolage Completed NCT03170505
37 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
38 Pilot Study Evaluating Characteristic Closure Patterns of the Normal Velopharyngeal Portal Completed NCT00773994
39 Tympanometric Analysis in Cleft Palate Completed NCT01820689
40 Primary Palatoplasty in Pediatric Patients - A Retrospective Review of Surgical Outcomes Completed NCT01380171
41 Evaluation of Facial Growth in Two Primary Protocols Used in the Surgical Treatment of Unilateral Cleft Lip and Palate Patients Completed NCT02329509
42 Svangerskap, Arv, og Miljo (Pregnancy, Heredity and Environment) Completed NCT00340977
43 Articulation and Phonology in Children With Unilateral Cleft Lip and Palate Completed NCT00829101
44 Systematic Pediatric Care for Oral Clefts - South America Completed NCT00097149
45 A Study to Examine the Relationship Between Sleep Apnea and Cleft Lip/Palate Completed NCT00156442
46 Effect Of Combination of Morphine+Fentanyl on Emergence Delirium in Patients of Cleft Lip and Palate Repair Completed NCT03010540 MORPHINE PLUS FENTANYL;Fentanyl
47 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
48 Child's Adipose Cells: Capacity of Tissue Regeneration Completed NCT02779205
49 Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly Completed NCT00005016
50 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068

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:

id Genetic test Affiliating Genes
1 Cleft Palate, Isolated 29 24
2 Cleft Palate 29

Anatomical Context for Cleft Palate, Isolated

MalaCards organs/tissues related to Cleft Palate, Isolated:

39
Bone

Publications for Cleft Palate, Isolated

Variations for Cleft Palate, Isolated

ClinVar genetic disease variations for Cleft Palate, Isolated:

6
id 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 FLNA NM_001110556.1(FLNA): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs28935469 GRCh37 Chromosome X, 153596212: 153596212

Copy number variations for Cleft Palate, Isolated from CNVD:

7
id 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:

id Super pathways Score Top Affiliating Genes
1 11.31 BMP4 COL2A1 TGFB3
2 11.27 BMP4 COL11A2 COL2A1 MSX1
3 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 21)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.99 BMP4 MSX1 RARA SATB2 TGFB3 UBB
2 negative regulation of transcription, DNA-templated GO:0045892 9.97 BMP4 FOXE1 MSX1 RARA TBX22
3 negative regulation of cell proliferation GO:0008285 9.92 BMP4 IRF6 MSX1 RARA TGFB3
4 negative regulation of apoptotic process GO:0043066 9.8 BMP4 FLNA MSX1 RARA TGFA UBB
5 activation of MAPK activity GO:0000187 9.76 TGFA TGFB3 UBB
6 BMP signaling pathway GO:0030509 9.74 BMP4 MSX1 TGFB3
7 skeletal system development GO:0001501 9.73 BMP4 COL11A2 COL2A1 TCOF1
8 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.7 BMP4 FOXE1 MSX1 RARA SATB2 TBX22
9 bone development GO:0060348 9.67 BMP4 COL2A1 RARA
10 tissue homeostasis GO:0001894 9.59 COL11A2 COL2A1
11 chondrocyte differentiation GO:0002062 9.58 BMP4 COL11A2 COL2A1
12 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.56 BMP4 MSX1
13 positive regulation of SMAD protein import into nucleus GO:0060391 9.55 BMP4 TGFB3
14 embryonic skeletal joint morphogenesis GO:0060272 9.54 BMP4 COL2A1
15 BMP signaling pathway involved in heart development GO:0061312 9.48 BMP4 MSX1
16 soft palate development GO:0060023 9.46 COL11A2 FOXE1
17 odontogenesis GO:0042476 9.43 BMP4 MSX1 TGFB3
18 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.37 MSX1 UBB
19 cartilage development GO:0051216 9.35 BMP4 COL11A2 COL2A1 MSX1 SATB2
20 palate development GO:0060021 9.17 COL11A2 COL2A1 FOXE1 GABRB3 MSX1 SATB2
21 positive regulation of transcription, DNA-templated GO:0045893 10 BMP4 FOXE1 IRF6 RARA TGFB3

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.56 FOXE1 MSX1 RARA SATB2
2 regulatory region DNA binding GO:0000975 9.16 IRF6 RARA
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.96 MSX1 RARA
4 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....