MCID: CLF027
MIFTS: 61

Cleft Palate, Isolated

Categories: Oral diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Cleft Palate, Isolated

MalaCards integrated aliases for Cleft Palate, Isolated:

Name: Cleft Palate, Isolated 53 28 69
Cleft Palate 53 12 72 28 51 41 14 69
Isolated Cleft Palate 12 14
Uranostaphyloschisis 12 69
Cpi 53 71
Cp 53 71
Cleft Palate Isolated with Mental Retardation 71
Cleft Palate Isolated 71
Cleft Palate; Cp 53
Palatoschisis 12
Cleft Velum 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
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 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate and cleft soft palate, and has symptoms including seizures, gingival overgrowth 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

OMIM : 53 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)

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.

Wikipedia : 72 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 122)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 34.1 FOXE1 MSX1 TGFB3
2 cleft soft palate 33.6 TBX22 UBB
3 cleft lip/palate 32.6 ARHGAP29 BMP4 FOXE1 IRF6 MSX1 MTHFR
4 cleft lip 31.5 ARHGAP29 BMP4 IRF6 MSX1 MTHFR NECTIN1
5 isolated cleft lip 30.3 FOXE1 IRF6 MSX1 NECTIN1
6 cleft palate with or without ankyloglossia, x-linked 12.5
7 omphalocele-cleft palate syndrome, lethal 12.4
8 hydrocephalus-cleft palate-joint contractures syndrome 12.3
9 microtia, hearing impairment, and cleft palate 12.3
10 cleft palate, psychomotor retardation, and distinctive facial features 12.2
11 cleft palate, cardiac defects, and mental retardation 12.2
12 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.2
13 submucosal cleft palate 12.2
14 cleft palate short stature vertebral anomalies 12.2
15 cleft palate x-linked 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 ankyloblepharon filiforme adnatum and cleft palate 12.0
20 dominant 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 craniosynostosis arthrogryposis cleft palate 11.9
37 cystic hygroma lethal cleft palate 11.9
38 hirschsprung microcephaly cleft palate 11.9
39 short limbs subluxed knees cleft palate 11.9
40 short stature monodactylous ectrodactyly cleft palate 11.9
41 microcephaly-cleft palate-abnormal retinal pigmentation syndrome 11.9
42 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 11.9
43 arthrogryposis, distal, type 3 11.9
44 schilbach-rott syndrome 11.9
45 syngnathia 11.9
46 aceruloplasminemia 11.9
47 say syndrome 11.8
48 pierre robin syndrome 11.8
49 cerebral palsy 11.5
50 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.2

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:

53
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:

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

UMLS symptoms related to Cleft Palate, Isolated:


seizures

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.3 BMP4 COL11A2 COL2A1 FLNA FOXE1 GABRB3
2 growth/size/body region MP:0005378 10.28 FOXE1 GABRB3 IRF6 MSX1 MTHFR NECTIN1
3 digestive/alimentary MP:0005381 10.21 BMP4 COL2A1 FLNA FOXE1 GABRB3 IRF6
4 mortality/aging MP:0010768 10.1 BMP4 COL2A1 FLNA FOXE1 GABRB3 IRF6
5 hearing/vestibular/ear MP:0005377 9.91 GABRB3 IRF6 MSX1 TCOF1 BMP4 COL11A2
6 limbs/digits/tail MP:0005371 9.87 BMP4 COL2A1 IRF6 MSX1 MTHFR SATB2
7 skeleton MP:0005390 9.8 COL11A2 COL2A1 FLNA GABRB3 IRF6 MSX1
8 respiratory system MP:0005388 9.76 BMP4 COL2A1 FLNA MSX1 SATB2 TBX22
9 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 76631-46-4, 113775-47-6 5311068 56032 68602
5 Analgesics Phase 4,Phase 3,Phase 2
6 Analgesics, Opioid Phase 4
7 Antitussive Agents Phase 4
8 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
9 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
10 Narcotics Phase 4
11 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
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
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 38396-39-3, 2180-92-9 2474
25
Levobupivacaine Approved, Investigational Phase 2, Phase 3 27262-47-1 92253
26
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
27
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
28 Racepinephrine Approved Phase 3 329-65-7
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 1
32 Anesthetics, Local Phase 2, Phase 3
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
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 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 72)

# 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 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
18 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
19 Suprazygomatic Block in Cleft Palate Surgery in Children Recruiting NCT03412474 Phase 2 Bupivacaine;Dexmedetomidine;paracetamol
20 Improvement of the Appearance of Cleft Lip Scars Using Botox Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
21 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2 Ambrisentan
22 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
23 Furlow Palatoplasty With Tensor Tenopexy Active, not recruiting NCT01535131 Phase 2
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 Child's Adipose Cells: Capacity of Tissue Regeneration Completed NCT02779205
48 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
49 Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly Completed NCT00005016
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 28 UBB
2 Cleft Palate 28

Anatomical Context for Cleft Palate, Isolated

MalaCards organs/tissues related to Cleft Palate, Isolated:

38
Bone

Publications for Cleft Palate, Isolated

Articles related to Cleft Palate, Isolated:

(show top 50) (show all 902)
# Title Authors Year
1
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family. ( 29150894 )
2018
2
Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate. ( 29403086 )
2018
3
Nasal Glial Heterotopia with Cleft Palate. ( 29386764 )
2018
4
Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate. ( 29374328 )
2018
5
Wieacker-Wolff syndrome with associated cleft palate in a female case. ( 29150902 )
2018
6
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome. ( 29440852 )
2018
7
Association of WNT Pathway Genes With Nonsyndromic Cleft Lip With or Without Cleft Palate. ( 29437498 )
2018
8
Association Between Cleft Lip and/or Cleft Palate and Family History of Cancer: A Case-Control Study. ( 29389703 )
2018
9
Outcomes of an International Volunteer Surgical Project for Patients with Cleft Lip and/or Cleft Palate: A Mission in Developing Laos. ( 28949405 )
2017
10
ClinicopathologicA Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. ( 28676249 )
2017
11
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
12
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
13
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
14
Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate. ( 28926086 )
2017
15
Nucleotide variants of the NAT2 and EGF61 genes in patients in Northern China with nonsyndromic cleft lip with or without cleft palate. ( 28906376 )
2017
16
Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population. ( 28886940 )
2017
17
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. ( 28425186 )
2017
18
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
19
Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population. ( 28151848 )
2017
20
Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China. ( 28383424 )
2017
21
Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case. ( 28246561 )
2017
22
BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate: A meta-analysis. ( 28767592 )
2017
23
TGFA93 / SfaN1 gene variant and the risk factor of nonsyndromic cleft palate only among Indonesian patients. ( 28364787 )
2017
24
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
25
Transmission analysis of TGFB1 gene polymorphisms in non-syndromic cleft lip with or without cleft palate. ( 28802359 )
2017
26
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. ( 28515470 )
2017
27
Impact of pharyngofixation in cleft palate repair surgery on the development of chronic adhesive otitis media. ( 28325168 )
2017
28
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. ( 28211976 )
2017
29
MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile. ( 27387868 )
2016
30
Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns. ( 27933446 )
2016
31
Congenital Fistula of the Hard Palate With Submucosal Cleft Palate. ( 27391507 )
2016
32
The Role of the Velopharyngeal Sphincter in the Speech of Patients with Cleft Palate or Cleft Lip and Palate Using Perceptual Methods. ( 28028412 )
2016
33
Cystathionine I^-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations. ( 27535090 )
2016
34
HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE. ( 27192895 )
2016
35
Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort. ( 27129939 )
2016
36
MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate. ( 27167580 )
2016
37
Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest. ( 28005814 )
2016
38
Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft Palate. ( 26953873 )
2016
39
Surgical Management of Duplication of the Pituitary Gland-Plus Syndrome With Epignathus, Cleft Palate, Duplication of Mandible, and Lobulated Tongue. ( 28027175 )
2016
40
Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta-analysis. ( 27511269 )
2016
41
Association of single-nucleotide polymorphisms, rs2235371 and rs2013162, in the IRF6 gene with non-syndromic cleft palate in northeast China. ( 27706679 )
2016
42
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. ( 27018472 )
2016
43
Association of MSX1 c.*6Ca88>a88T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients. ( 27228008 )
2016
44
Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate. ( 27604992 )
2016
45
Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data. ( 27630819 )
2016
46
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. ( 27018475 )
2016
47
Congenital omphalocele and cleft palate in two fetuses. ( 26867152 )
2016
48
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. ( 27833291 )
2016
49
Perforation With Submucosal Cleft Palate in a Previously Undiagnosed Adult Patient. ( 27526237 )
2016
50
Association Between the Transforming Growth Factor Beta 1 Gene Polymorphisms and Turkish Patients with Nonsyndromic Cleft Lip With/Without Cleft Palate. ( 26954016 )
2016

Variations for Cleft Palate, Isolated

ClinVar genetic disease variations for Cleft Palate, Isolated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs28935469 GRCh37 Chromosome X, 153596212: 153596212
2 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh37 Chromosome 1, 209974743: 209974743

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 11.31 BMP4 COL2A1 TGFB3
2 11.27 BMP4 COL11A2 COL2A1 MSX1
3 10.56 BMP4 COL11A2 COL2A1 TGFA TGFB3
4 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 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.95 BMP4 FLNA MSX1 TGFA UBB
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 BMP4 FOXE1 MSX1 SATB2 TBX22 UBB
3 activation of MAPK activity GO:0000187 9.73 TGFA TGFB3 UBB
4 BMP signaling pathway GO:0030509 9.71 BMP4 MSX1 TGFB3
5 skeletal system development GO:0001501 9.67 BMP4 COL11A2 COL2A1 TCOF1
6 camera-type eye morphogenesis GO:0048593 9.58 BMP4 NECTIN1
7 tissue homeostasis GO:0001894 9.57 COL11A2 COL2A1
8 positive regulation of SMAD protein import into nucleus GO:0060391 9.52 BMP4 TGFB3
9 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.51 BMP4 MSX1
10 chondrocyte differentiation GO:0002062 9.5 BMP4 COL11A2 COL2A1
11 embryonic skeletal joint morphogenesis GO:0060272 9.49 BMP4 COL2A1
12 BMP signaling pathway involved in heart development GO:0061312 9.43 BMP4 MSX1
13 odontogenesis GO:0042476 9.43 BMP4 MSX1 TGFB3
14 soft palate development GO:0060023 9.4 COL11A2 FOXE1
15 cartilage development GO:0051216 9.35 BMP4 COL11A2 COL2A1 MSX1 SATB2
16 palate development GO:0060021 9.17 COL11A2 COL2A1 FOXE1 GABRB3 MSX1 SATB2
17 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.16 MSX1 UBB
18 positive regulation of transcription by RNA polymerase II GO:0045944 10 BMP4 IRF6 MSX1 NHLH1 SATB2 TGFB3

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.26 MSX1 NHLH1 SATB2 TBX22
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
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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41 MeSH
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43 MGI
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
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