Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
CPI
MCID: CLF027
MIFTS: 64

Cleft Palate, Isolated (CPI)

Categories: Mental diseases, Neuronal diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Cleft Palate, Isolated

About this section

MalaCards integrated aliases for Cleft Palate, Isolated:

Name: Cleft Palate, Isolated 58 30 6 74
Cleft Palate 58 12 77 30 56 6 45 15 74
Isolated Cleft Palate 12 15
Cpi 58 76
Cp 58 76
Cleft Palate Isolated with Mental Retardation 76
Cleft Palate, Isolated ) 41
Cleft Palate Isolated 76
Uranostaphyloschisis 74
Cleft Palate; Cp 58
Palatoschisis 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cleft palate, isolated:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Anatomical: Oral diseases Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34


Sources

Summaries for Cleft Palate, Isolated

About this section
UniProtKB/Swiss-Prot : 76 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 SATB2 (SATB Homeobox 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Hypothetical Craniofacial Development Pathway. The drugs Dexmedetomidine and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and heart, and related phenotypes are cleft palate and non-midline cleft lip

Disease Ontology : 12 An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.

OMIM : 58 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 : 77 Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft... more...

Sources

Related Diseases for Cleft Palate, Isolated

About this section

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

(show top 50) (show all 735)
# Related Disease Score Top Affiliating Genes
1 cleft palate with or without ankyloglossia, x-linked 34.9 BMP4 MSX1 TBX22
2 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 34.5 FOXE1 MSX1 TGFB3
3 syngnathia 34.0 BMP4 IRF6 MSX1 SATB2
4 cleft lip/palate 33.8 BMP4 FOXE1 IRF6 MSX1 MTHFR NECTIN1
5 abruzzo-erickson syndrome 33.6 TBX22 TCOF1
6 cleft lip 33.2 BMP4 IRF6 MSX1 MTHFR NECTIN1 TGFB3
7 orofacial cleft 32.7 BMP4 FOXE1 IRF6 MSX1 NECTIN1 SATB2
8 isolated cleft lip 32.5 FOXE1 IRF6 MSX1 NECTIN1
9 cleft lip and alveolus 31.8 IRF6 MSX1 NECTIN1
10 ankyloglossia 31.5 IRF6 TBX22
11 tooth agenesis 30.8 BMP4 IRF6 MSX1 SATB2 TGFB3
12 choanal atresia, posterior 30.6 FOXE1 SATB2
13 tooth size 30.5 BMP4 MSX1
14 omphalocele-cleft palate syndrome, lethal 12.6
15 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.5
16 cleft palate, cardiac defects, and mental retardation 12.5
17 microtia, hearing impairment, and cleft palate 12.5
18 hydrocephalus-cleft palate-joint contractures syndrome 12.5
19 cleft palate, psychomotor retardation, and distinctive facial features 12.5
20 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.4
21 submucosal cleft palate 12.4
22 cleft palate x-linked 12.4
23 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.4
24 cleft palate short stature vertebral anomalies 12.4
25 mesomelic dwarfism cleft palate camptodactyly 12.4
26 syngnathia cleft palate 12.3
27 ankyloblepharon filiforme adnatum and cleft palate 12.3
28 dominant cleft palate 12.3
29 palant cleft palate syndrome 12.2
30 acromegaloid features, overgrowth, cleft palate, and hernia 12.2
31 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.2
32 mandibulofacial dysostosis, guion-almeida type 12.2
33 ectrodactyly-cleft palate syndrome 12.2
34 cleft palate, deafness, and oligodontia 12.2
35 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.2
36 dysmorphism cleft palate loose skin 12.2
37 myopathy, congenital, bailey-bloch 12.2
38 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 12.1
39 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.1
40 anophthalmia cleft palate micrognathia 12.1
41 cleft palate colobomata radial synostosis deafness 12.1
42 cleft palate heart disease polydactyly absent tibia 12.1
43 cleft palate stapes fixation oligodontia 12.1
44 cleft palate, cardiac defects, and intellectual disability 12.1
45 craniosynostosis arthrogryposis cleft palate 12.1
46 short limbs subluxed knees cleft palate 12.1
47 short stature monodactylous ectrodactyly cleft palate 12.1
48 microcephaly-cleft palate-abnormal retinal pigmentation syndrome 12.1
49 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 12.1
50 arthrogryposis, distal, type 3 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

Human phenotypes related to Cleft Palate, Isolated:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 hallmark (90%) HP:0000175
2 non-midline cleft lip 33 occasional (7.5%) HP:0100335
3 seizures 33 HP:0001250
4 gingival overgrowth 33 HP:0000212
5 micrognathia 33 HP:0000347
6 intellectual disability, profound 33 HP:0002187
7 anterior open-bite malocclusion 33 HP:0009102
8 overbite 33 HP:0011094

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate, isolated

Clinical features from OMIM:

119540

UMLS symptoms related to Cleft Palate, Isolated:


seizures

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 BMP4 FLNA FOXE1 GABRB3 INPP5E IRF6
2 craniofacial MP:0005382 10.34 BMP4 FLNA FOXE1 GABRB3 INPP5E IRF6
3 mortality/aging MP:0010768 10.32 BMP4 FLNA FOXE1 GABRB3 GNB1 INPP5E
4 behavior/neurological MP:0005386 10.26 BMP4 FLNA GABRB3 GNB1 MSX1 NECTIN1
5 digestive/alimentary MP:0005381 10.26 BMP4 FLNA FOXE1 GABRB3 INPP5E IRF6
6 cellular MP:0005384 10.21 BMP4 FLNA GNB1 INPP5E IRF6 NIPBL
7 embryo MP:0005380 10.16 BMP4 GNB1 INPP5E IRF6 MSX1 NIPBL
8 limbs/digits/tail MP:0005371 10.02 BMP4 INPP5E IRF6 MSX1 MTHFR NIPBL
9 nervous system MP:0003631 10 BMP4 FLNA GABRB3 GNB1 INPP5E MSX1
10 hearing/vestibular/ear MP:0005377 9.88 BMP4 GABRB3 IRF6 MSX1 NIPBL TCOF1
11 skeleton MP:0005390 9.8 BMP4 FLNA GABRB3 INPP5E IRF6 MSX1
12 respiratory system MP:0005388 9.76 BMP4 FLNA GNB1 MSX1 SATB2 TBX22
13 vision/eye MP:0005391 9.28 BMP4 FLNA INPP5E MSX1 MTHFR NECTIN1
Sources

Drugs & Therapeutics for Cleft Palate, Isolated

About this section

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

(show top 50) (show all 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2 113775-47-6 5311068 68602
2
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
3
Codeine Approved, Illicit Phase 4 76-57-3 5284371
4
Tranexamic Acid Approved Phase 4 1197-18-8 5526
5 Fibrin Tissue Adhesive Phase 4
6 Hemostatics Phase 4
7 Coagulants Phase 4
8 Adrenergic alpha-Agonists Phase 4,Phase 2
9 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
10 Adrenergic Agonists Phase 4,Phase 2
11 Adrenergic Agents Phase 4,Phase 2
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
13 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
14 Hypnotics and Sedatives Phase 4,Phase 2
15 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
17 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Not Applicable
18 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
19 Respiratory System Agents Phase 4
20 Antitussive Agents Phase 4
21 Analgesics, Opioid Phase 4,Not Applicable
22 Narcotics Phase 4,Not Applicable
23 Antifibrinolytic Agents Phase 4
24
Levobupivacaine Approved, Investigational Phase 2, Phase 3 27262-47-1 92253
25
Bupivacaine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 38396-39-3, 2180-92-9 2474
26
leucovorin Approved Phase 3,Not Applicable 58-05-9 143 6006
27
Epinephrine Approved, Vet_approved Phase 3,Not Applicable 51-43-4 5816
28
Racepinephrine Approved Phase 3,Not Applicable 329-65-7 838
29
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
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 Trace Elements Phase 3,Not Applicable
36 Vitamins Phase 3,Not Applicable
37 Folate Phase 3,Not Applicable
38 Nutrients Phase 3,Not Applicable
39 Micronutrients Phase 3,Not Applicable
40 Hematinics Phase 3,Not Applicable
41 Epinephryl borate Phase 3,Not Applicable
42 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable,Early Phase 1
43 Antirheumatic Agents Phase 3
44 Ketorolac Tromethamine Phase 3
45 Anti-Inflammatory Agents, Non-Steroidal Phase 3
46 Anti-Inflammatory Agents Phase 3,Early Phase 1
47 Cyclooxygenase Inhibitors Phase 3
48
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
49
Acetaminophen Approved Phase 2,Not Applicable 103-90-2 1983
50
Sultamicillin Approved, Investigational Phase 2 76497-13-7

Interventional clinical trials:

(show top 50) (show all 93)
# Name Status NCT ID Phase Drugs
1 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4 Tisseel
2 Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair Withdrawn NCT02915042 Phase 4 Dexmedetomidine;Placebo
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 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 IV Acetaminophen in Children Undergoing Palatoplasty Withdrawn NCT01760330 Phase 2 IV acetaminophen;Placebo
15 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
16 Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse? Completed NCT02350803 Phase 2
17 Improvement of the Appearance of Cleft Lip Scars Using Botox Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
18 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
19 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
20 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
21 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
22 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
23 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
24 An Investigation for the Optimal Timing of a Cleft Palate Repair Unknown status NCT00779961 Early Phase 1
25 Evaluation of the Incidence of Palatal Fistula in Furlow Double-opposing Z-plasty vs. Two-flap Palatoplasty for Cleft Palate Repair Unknown status NCT03055637 Not Applicable
26 Improving Informed Consent for Cleft Palate Repair Unknown status NCT02595307 Not Applicable
27 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
28 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234 Not Applicable
29 3D Imaging of Hard and Soft Tissue in Orthognathic Surgery Unknown status NCT00285714 Not Applicable
30 Quantification, Analysis and Simulation of Facial Mimics Movements Unknown status NCT02002572 Not Applicable
31 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
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 Bone-borne Palatal Expander With Corticotomy for Cleft Palate Patients Not yet recruiting NCT03837652 Not Applicable
36 Sleep and Behavior in Children With Cleft Palate Completed NCT01046591
37 Middle Ear Pressure Disregulation in Cleft Palate Patients Completed NCT00423072
38 Retrospective Study on the Outcome of Cleft Palate Repair: Comparing US Surgical and Ethicon Suture Materials Completed NCT00584272
39 Suprazygomatic Nerve Block vs Surgical Site Infiltration in Cleft Palate Repair Active, not recruiting NCT03799068 Not Applicable
40 Efficacy of Oral Versus Intravenous Acetaminophen for Primary Pediatric Cleft Palate Repair Completed NCT01500109 Not Applicable Oral acetaminophen;Ofirmev®;Opioid only
41 Improving Outcomes in Cleft Palate Surgery Active, not recruiting NCT02583100 Not Applicable
42 Exercises for Improving Soft Palate and Eustachian Tube Function in Children With Ear Tubes With or Without Cleft Palate Not yet recruiting NCT03868891 Not Applicable
43 Evaluation of Trigeminal Nerve Blockade Enrolling by invitation NCT03632044 Early Phase 1 Ropivacaine
44 Otologic and Rhinologic Outcomes in Children With Clef Palate Recruiting NCT03708406
45 Acellular Dermal Matrix in Primary Palatoplasty Completed NCT01867632
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 Furlow Palatoplasty With Tensor Tenopexy Active, not recruiting NCT01535131 Not Applicable
48 Using of Acellular Dermal Matrix in Cleft Palatal Fistula and Compare With Use of Conchal Cartolage Completed NCT03170505
49 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
50 Pilot Study Evaluating Characteristic Closure Patterns of the Normal Velopharyngeal Portal Completed NCT00773994 Not Applicable

Search NIH Clinical Center for Cleft Palate, Isolated

Cochrane evidence based reviews: cleft palate

Sources

Genetic Tests for Cleft Palate, Isolated

About this section

Genetic tests related to Cleft Palate, Isolated:

# Genetic test Affiliating Genes
1 Cleft Palate, Isolated 30
2 Cleft Palate 30
Sources

Anatomical Context for Cleft Palate, Isolated

About this section

MalaCards organs/tissues related to Cleft Palate, Isolated:

42
Bone, Tongue, Heart, Skin, Brain, Liver, Pituitary
Sources

Publications for Cleft Palate, Isolated

About this section

Articles related to Cleft Palate, Isolated:

(show top 50) (show all 3154)
# Title Authors Year
1
Tongue-palate contact for nasal versus oral stops in speakers with repaired cleft palate. ( 30843438 )
2019
2
Contribution of the Use of a Pen-Type Endoscope to Evaluate and Treat Ears Simultaneously During Cleft Palate Surgery in Late Presented Cases. ( 30865113 )
2019
3
Dental Infection Cause of Flap Loss in Cleft Palate Repair. ( 30998590 )
2019
4
Identification of circular RNA-associated competing endogenous RNA network in the development of cleft palate. ( 31074068 )
2019
5
Bifid Tongue and Cleft Palate With and Without a Tessier 30 Facial Cleft: Cases of Rare Congenital Anomalies and a Review of Management and Literature. ( 31092003 )
2019
6
Parental Experience of Sleep-Disordered Breathing in Infants With Cleft Palate: Comparing Parental and Clinical Priorities. ( 29665338 )
2019
7
AMBU® LMA® in Children With Cleft Palate for Ophthalmic Surgery: A Case Report. ( 30095444 )
2019
8
Management of nasopharyngeal teratomas associated with cleft palate. ( 30243829 )
2019
9
Palatal Measurements Pre- and Post-Furlow Cleft Palate Repair: Analysis of Palatal Lengthening and Comparison Within Cleft Types. ( 30309259 )
2019
10
Effect of Cleft Palate Closure Technique on Speech and Middle Ear Outcome: A Systematic Review. ( 30367844 )
2019
11
Russell-Silver syndrome with cleft palate: a case report. ( 30515601 )
2019
12
Camouflage treatment of skeletal Class III malocclusion in an adult cleft-palate patient using passive self-ligating system. ( 30591155 )
2019
13
Children with Cleft Palate: Predictors of Otologic Issues in the First 10 Years. ( 30668229 )
2019
14
Health-related quality of life in patients with cleft palate: Reproducibility, responsiveness and construct validity of the Dutch version of the VELO questionnaire. ( 30708181 )
2019
15
What We Do: Greater Palatine Medializing Foraminal Osteotomy for Repair of the Wide Cleft Palate. ( 30755023 )
2019
16
The relationship between health-related quality of life and speech in patients with cleft palate. ( 30776568 )
2019
17
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 )
2019
18
Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population. ( 30240501 )
2019
19
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 )
2019
20
Association of long interspersed nucleotide element-1 and interferon regulatory factor 6 methylation changes with nonsyndromic cleft lip with or without cleft palate. ( 30153397 )
2019
21
Association between selected essential trace element concentrations in umbilical cord and risk for cleft lip with or without cleft palate: A case-control study. ( 30669052 )
2019
22
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 )
2019
23
Understanding the participation of GREM1 polymorphisms in nonsyndromic cleft lip with or without cleft palate in the Brazilian population. ( 30402937 )
2019
24
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. ( 31063268 )
2019
25
Quality of Life Among Dutch Children With a Cleft Lip and/or Cleft Palate: A Follow-Up Study. ( 31035778 )
2019
26
The Birth Prevalence of Cleft Lip and/or Cleft Palate After the 2011 Tōhoku Earthquake and Tsunami. ( 30987452 )
2019
27
Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate. ( 30953423 )
2019
28
Association of single nucleotide polymorphisms in TPM1 rs11071720, rs3803499, rs12148828, and rs1972041 with the risk of nonsyndromic cleft lip with or without cleft palate in a sample of the Iranian population, a preliminary report. ( 30888054 )
2019
29
MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population. ( 30881086 )
2019
30
Cleft Palate with or without Cleft Lip: The Role of Retronasal Triangle View and Maxillary Gap at 11-14 Weeks. ( 30852571 )
2019
31
Exploring the interaction between FGF genes and T-box genes among Chinese non-syndromic cleft lip with or without cleft palate case-parent trios. ( 30848863 )
2019
32
The Relationship between the Type of Cleft and Nasal Air Emission in Speech of Children with Cleft Palate or Cleft Lip and Palate. ( 30834000 )
2019
33
Congenital lateral cleft palate with unilateral craniofacial microsomia and lateral ankyloglossia. ( 30700453 )
2019
34
Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus and cleft palate in mice and men. ( 30811539 )
2019
35
Pathobiological role of cleft palate transmembrane protein 1 family proteins in oral squamous cell carcinoma. ( 30635792 )
2019
36
Risk of occurrence and recurrence of otitis media with effusion in children suffering from cleft palate. ( 30735917 )
2019
37
Clinical outcomes of otitis media with effusion following palatoplasty in patients with incomplete cleft palate. ( 30712437 )
2019
38
Otitis media with effusion in Nigerian children with cleft palate: incidence and risk factors. ( 30598317 )
2019
39
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate. ( 31028281 )
2019
40
Cellular and molecular mechanisms of cleft palate development. ( 30828634 )
2019
41
Korean Cleft Palate-Craniofacial Association: history and perspectives. ( 30840812 )
2019
42
A Comparison of Early Versus Late Prenatal Magnetic Resonance Imaging in the Diagnosis of Cleft Palate. ( 30855394 )
2019
43
Correction to: Untreated incomplete isolated cleft palate: cadaveric findings. ( 30863931 )
2019
44
The prenatal diagnosis and classification of cleft palate: the role and value of magnetic resonance imaging. ( 30887208 )
2019
45
Ear- and hearing-related impact on quality of life in children with cleft palate: Development and pretest of a health-related quality of life (HRQOL) instrument. ( 30933842 )
2019
46
Bone and soft tissue palatal morphology and potential anchorage sides in cleft palate patients. ( 30953811 )
2019
47
Effects of Age on Voice Onset Time and Variability in Children with Repaired Cleft Palate. ( 30959501 )
2019
48
The Soft Tissue Angular Analysis of Facial Profile in Unoperated Adult Patients with Unilateral Cleft Palate. ( 30963186 )
2019
49
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay. ( 30976112 )
2019
50
Developing a synthetic composite membrane for cleft palate repair. ( 30977264 )
2019
Sources

Variations for Cleft Palate, Isolated

About this section

ClinVar genetic disease variations for Cleft Palate, Isolated:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh37 Chromosome 9, 139327634: 139327634
2 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh38 Chromosome 9, 136433182: 136433182
3 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh37 Chromosome 1, 209974743: 209974743
4 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh38 Chromosome 1, 209801398: 209801398
5 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh37 Chromosome 17, 16852187: 16852187
6 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh38 Chromosome 17, 16948873: 16948873
7 FLNA NM_001110556.1(FLNA): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs28935469 GRCh37 Chromosome X, 153596212: 153596212
8 FLNA NM_001110556.1(FLNA): c.620C> T (p.Pro207Leu) single nucleotide variant Pathogenic rs28935469 GRCh38 Chromosome X, 154367844: 154367844
9 PDGFRA NM_006206.5(PDGFRA): c.1202C> A (p.Ala401Asp) single nucleotide variant Likely benign rs397514549 GRCh37 Chromosome 4, 55136880: 55136880
10 PDGFRA NM_006206.5(PDGFRA): c.1202C> A (p.Ala401Asp) single nucleotide variant Likely benign rs397514549 GRCh38 Chromosome 4, 54270713: 54270713
11 PDGFRA NM_006206.5(PDGFRA): c.1631T> C (p.Val544Ala) single nucleotide variant Likely benign rs181854060 GRCh37 Chromosome 4, 55140770: 55140770
12 PDGFRA NM_006206.5(PDGFRA): c.1631T> C (p.Val544Ala) single nucleotide variant Likely benign rs181854060 GRCh38 Chromosome 4, 54274603: 54274603
13 PDGFRA NM_006206.5(PDGFRA): c.3155C> T (p.Thr1052Met) single nucleotide variant Uncertain significance rs397514550 GRCh37 Chromosome 4, 55161324: 55161324
14 PDGFRA NM_006206.5(PDGFRA): c.3155C> T (p.Thr1052Met) single nucleotide variant Uncertain significance rs397514550 GRCh38 Chromosome 4, 54295157: 54295157
15 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh37 Chromosome X, 139586489: 139586491
16 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh38 Chromosome X, 140504324: 140504326
17 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh37 Chromosome 5, 176662864: 176662864
18 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh38 Chromosome 5, 177235863: 177235863
19 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh37 Chromosome 1, 116206600: 116206600
20 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh38 Chromosome 1, 115663979: 115663979
21 MYO15A NM_016239.3(MYO15A): c.1454T> C (p.Val485Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200532919 GRCh37 Chromosome 17, 18023568: 18023568
22 MYO15A NM_016239.3(MYO15A): c.1454T> C (p.Val485Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200532919 GRCh38 Chromosome 17, 18120254: 18120254
23 DNAH11 NM_001277115.1(DNAH11): c.10472G> A (p.Arg3491His) single nucleotide variant Uncertain significance rs370932895 GRCh37 Chromosome 7, 21856224: 21856224
24 DNAH11 NM_001277115.1(DNAH11): c.10472G> A (p.Arg3491His) single nucleotide variant Uncertain significance rs370932895 GRCh38 Chromosome 7, 21816606: 21816606
25 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
26 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
27 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
28 46;XX;ins(5;6)(p13;p24p25)dn Translocation Pathogenic
29 NFIA NM_001145512.1(NFIA): c.1040del (p.Gly347Glufs) deletion Likely pathogenic rs1057518992 GRCh37 Chromosome 1, 61824905: 61824905
30 NFIA NM_001145512.1(NFIA): c.1040del (p.Gly347Glufs) deletion Likely pathogenic rs1057518992 GRCh38 Chromosome 1, 61359233: 61359233
31 SATB2 NM_001172509.1(SATB2): c.1375C> T (p.Arg459Ter) single nucleotide variant Pathogenic rs1553547838 GRCh37 Chromosome 2, 200193432: 200193432
32 SATB2 NM_001172509.1(SATB2): c.1375C> T (p.Arg459Ter) single nucleotide variant Pathogenic rs1553547838 GRCh38 Chromosome 2, 199328709: 199328709
33 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic rs1553200431 GRCh37 Chromosome 1, 103377736: 103377753
34 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic rs1553200431 GRCh38 Chromosome 1, 102912180: 102912197
35 SATB2 NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs) deletion Pathogenic rs1553544133 GRCh37 Chromosome 2, 200173568: 200173569
36 SATB2 NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs) deletion Pathogenic rs1553544133 GRCh38 Chromosome 2, 199308845: 199308846
37 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic rs1554034812 GRCh38 Chromosome 5, 37058939: 37058939
38 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic rs1554034812 GRCh37 Chromosome 5, 37059041: 37059041
39 TBX22 NM_001109878.1(TBX22): c.448A> C (p.Lys150Gln) single nucleotide variant Uncertain significance rs1156605251 GRCh38 Chromosome X, 80024154: 80024154
40 TBX22 NM_001109878.1(TBX22): c.448A> C (p.Lys150Gln) single nucleotide variant Uncertain significance rs1156605251 GRCh37 Chromosome X, 79279653: 79279653
41 LRRC32 NM_005512.2(LRRC32): c.1630C> T (p.Arg544Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 76659963: 76659963
42 LRRC32 NM_005512.2(LRRC32): c.1630C> T (p.Arg544Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 76371007: 76371007
43 TMCO1 NM_019026.4(TMCO1): c.646_647delGC (p.Ala216Profs) deletion Likely pathogenic GRCh37 Chromosome 1, 165697332: 165697334
44 TMCO1 NM_019026.4(TMCO1): c.646_647delGC (p.Ala216Profs) deletion Likely pathogenic GRCh38 Chromosome 1, 165728096: 165728097
45 TMCO1 NM_019026.4(TMCO1): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 165712409: 165712409
46 TMCO1 NM_019026.4(TMCO1): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 165743172: 165743172
47 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 175689207: 175689207
48 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 174824479: 174824479
49 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 241686664: 241686664
50 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 240747247: 240747247

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 161606 22 19412033 19790830 Duplication cleft palate
3 161497 22 19062809 19791607 Deletion cleft palate
Sources

Expression for Cleft Palate, Isolated

About this section
Search GEO for disease gene expression data for Cleft Palate, Isolated.
Sources

Pathways for Cleft Palate, Isolated

About this section

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 66
11.26 BMP4 IRF6 MSX1
2
Hypothetical Craniofacial Development Pathway 1
9.53 IRF6 TGFB3
Sources

GO Terms for Cleft Palate, Isolated

About this section

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 BMP4 FOXE1 IRF6 NSD1 TGFB3
2 negative regulation of transcription, DNA-templated GO:0045892 9.91 BMP4 FOXE1 MSX1 NIPBL TBX22
3 negative regulation of neuron apoptotic process GO:0043524 9.76 GABRB3 TGFB3 WFS1
4 sensory perception of sound GO:0007605 9.75 GABRB3 NIPBL WFS1
5 positive regulation of collagen biosynthetic process GO:0032967 9.59 BMP4 TGFB3
6 cartilage development GO:0051216 9.58 BMP4 MSX1 SATB2
7 camera-type eye morphogenesis GO:0048593 9.56 BMP4 NECTIN1
8 positive regulation of neuron migration GO:2001224 9.54 FLNA NIPBL
9 cell development GO:0048468 9.54 BMP4 IRF6 TGFB3
10 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.52 TMCO1 WFS1
11 positive regulation of ossification GO:0045778 9.49 BMP4 NIPBL
12 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.48 BMP4 MSX1
13 positive regulation of SMAD protein signal transduction GO:0060391 9.46 BMP4 TGFB3
14 ER overload response GO:0006983 9.43 TMCO1 WFS1
15 odontogenesis GO:0042476 9.43 BMP4 MSX1 TGFB3
16 face morphogenesis GO:0060325 9.33 MSX1 NIPBL TGFB3
17 BMP signaling pathway involved in heart development GO:0061312 9.32 BMP4 MSX1
18 roof of mouth development GO:0060021 9.26 FOXE1 GABRB3 MSX1 SATB2
19 negative regulation of transcription by RNA polymerase II GO:0000122 9.23 BMP4 FOXE1 MSX1 NIPBL NSD1 SATB2
20 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 BMP4 IRF6 MSX1 NIPBL SATB2 TGFB3
Sources

Sources for Cleft Palate, Isolated

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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
Content
Loading form....