MCID: CLF028
MIFTS: 37

Cleft Soft Palate

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cleft Soft Palate

MalaCards integrated aliases for Cleft Soft Palate:

Name: Cleft Soft Palate 56 12 58 15 32
Cleft Velum Palatinum 12 58
Cleft Velum 12 58
Cleft of Soft Palate 6
Soft Cleft Palate 12

Characteristics:

Orphanet epidemiological data:

58
cleft velum
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cleft soft palate:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110214
OMIM 56 119570
ICD10 via Orphanet 33 Q35.3
UMLS via Orphanet 72 C0432098
Orphanet 58 ORPHA99772
MedGen 41 C0432098

Summaries for Cleft Soft Palate

Disease Ontology : 12 Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.

MalaCards based summary : Cleft Soft Palate, also known as cleft velum palatinum, is related to cleft palate, isolated and cleft hard palate. An important gene associated with Cleft Soft Palate is PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2). Affiliated tissues include tongue, eye and pituitary, and related phenotypes are poor suck and oral-pharyngeal dysphagia

More information from OMIM: 119570

Related Diseases for Cleft Soft Palate

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 32.0 VAX1 TMEM54 TBX22 OSR2 IRF6 GRHL3
2 cleft hard palate 31.7 UBB GRHL3
3 cleft lip 30.0 VAX1 TBX22 IRF6 GRHL3
4 otopalatodigital syndrome, type ii 11.4
5 tarp syndrome 11.3
6 cleft lip/palate 11.1
7 cleft lip with or without cleft palate 10.8
8 submucosal cleft palate 10.5 UBB GRHL3
9 uvula, bifid 10.5 UBB GRHL3
10 fetal encasement syndrome 10.4 IRF6 GRHL3
11 cleft palate with or without ankyloglossia, x-linked 10.3 TBX22 OSR2
12 fibrochondrogenesis 1 10.3 COL11A2 COL11A1
13 kohler's disease 10.3 COL11A2 COL11A1
14 chromosome 18q deletion syndrome 10.3 TTC28 PTER NETO1
15 vitreous syneresis 10.2 COL11A2 COL11A1
16 kniest dysplasia 10.2 COL11A2 COL11A1
17 ankyloglossia with or without tooth anomalies 10.2 TTC28 TBX22 IRF6
18 retinal perforation 10.2 COL11A2 COL11A1
19 combined oxidative phosphorylation deficiency 5 10.2 MRPS22 COPB2
20 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.2 COL11A2 COL11A1
21 blepharophimosis, ptosis, and epicanthus inversus 10.1 OSR2 MRPS22
22 schneckenbecken dysplasia 10.1 COL11A2 COL11A1
23 lymphoid interstitial pneumonia 10.1 VAX1 TMEM54 IRF6
24 marshall syndrome 10.1 COL11A2 COL11A1
25 tooth agenesis 10.1 TMEM54 TBX22 OSR2 IRF6
26 popliteal pterygium syndrome 10.1 VAX1 TBX22 IRF6 GRHL3
27 van der woude syndrome 1 10.1 VAX1 TBX22 IRF6 GRHL3
28 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL11A2 COL11A1
29 coloboma of macula 10.0
30 hypertelorism 10.0
31 lipomatosis, multiple 10.0
32 branchiootic syndrome 1 10.0
33 striatal degeneration, autosomal dominant 2 10.0
34 x-linked alport syndrome 10.0
35 pleomorphic lipoma 10.0
36 microphthalmia 10.0
37 alport syndrome 10.0
38 nephrotic syndrome 10.0
39 ankylosis 10.0
40 pierre robin syndrome 10.0
41 isolated pierre robin sequence 10.0
42 branchiooculofacial syndrome 9.8 VAX1 IRF6
43 physical disorder 9.8 VAX1 TMEM54 TBX22 PTER IRF6 GRHL3
44 orofacial cleft 9.2 VAX1 TMEM54 TBX22 PTER OSR2 IRF6

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



Diseases related to Cleft Soft Palate

Symptoms & Phenotypes for Cleft Soft Palate

Human phenotypes related to Cleft Soft Palate:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
2 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
3 velopharyngeal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000220
4 cleft soft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000185
5 nasal regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0011469
6 receptive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0010863
7 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
8 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
9 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
10 nasal speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001611
11 short face 58 31 occasional (7.5%) Occasional (29-5%) HP:0011219
12 aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011951
13 speech articulation difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0009088

Symptoms via clinical synopsis from OMIM:

56
Mouth:
cleft soft palate

Clinical features from OMIM:

119570

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.6 COL11A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.6 COL11A1 IRF6
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.6 COL11A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.6 COL11A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.6 COL11A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.6 COL11A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.6 COL11A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.6 COPB2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.6 IRF6
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 9.6 COPB2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-185 9.6 COL11A1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 9.6 COPB2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.6 COPB2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.6 IRF6
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.6 COL11A1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-69 9.6 COL11A1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.6 COL11A1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.6 COL11A1

MGI Mouse Phenotypes related to Cleft Soft Palate:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.76 COL11A1 COL11A2 GRHL3 IRF6 OSR2 TBX22
2 growth/size/body region MP:0005378 9.7 CEP120 COL11A1 COL11A2 COPB2 GRHL3 IRF6
3 skeleton MP:0005390 9.28 COL11A1 COL11A2 GRHL3 IRF6 MRPS22 OSR2

Drugs & Therapeutics for Cleft Soft Palate

Search Clinical Trials , NIH Clinical Center for Cleft Soft Palate

Genetic Tests for Cleft Soft Palate

Anatomical Context for Cleft Soft Palate

MalaCards organs/tissues related to Cleft Soft Palate:

40
Tongue, Eye, Pituitary

Publications for Cleft Soft Palate

Articles related to Cleft Soft Palate:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Dominant inheritance of cleft of the soft palate. 56
7372339 1980
2
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. 61
31472299 2020
3
Soft palate bi-pedicle flaps: A modification of VY repair of cleft soft palate in twenty-six patients. 61
30729715 2019
4
Induced ankylosis of primary canines for absolute anchorage in the treatment of a patient with Class III malocclusion and cleft soft palate. 61
30826043 2019
5
Dynamic activation of Wnt, Fgf, and Hh signaling during soft palate development. 61
31613912 2019
6
Speech in 5-Year-Olds With Cleft Palate With or Without Cleft Lip Treated With Primary Palatal Surgery With Muscle Reconstruction According to Sommerlad. 61
29613839 2018
7
Impact of early intravelar veloplasty at six months on mandibular growth in patients with Pierre Robin Sequence. 61
29793779 2018
8
A Descriptive Study of Chlorhexidine as a Disinfectant in Cleft Palate Surgery. 61
29724746 2018
9
Surgical Management of Duplication of the Pituitary Gland-Plus Syndrome With Epignathus, Cleft Palate, Duplication of Mandible, and Lobulated Tongue. 61
28027175 2017
10
A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate. 61
28393073 2017
11
Ascher's syndrome: A rare case report. 61
25971175 2015
12
Furlow double-opposing z-plasty. 61
25733234 2015
13
The influence of the extend of isolated palatal cleft on craniofacial morphology. 61
24011467 2014
14
Centre-based statistics of cleft lip with/without alveolus and palate as well as cleft palate only patients in Aden, Yemen. 61
23849245 2014
15
TGFβ regulates epithelial-mesenchymal interactions through WNT signaling activity to control muscle development in the soft palate. 61
24496627 2014
16
Three-dimensional ultrasound demonstration of the fetal palate in high-risk patients: the accuracy of prenatal visualization. 61
23494892 2013
17
Speech outcome after early repair of cleft soft palate using Furlow technique. 61
23116906 2013
18
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. 61
22436304 2012
19
Double-reversing z-plasty (Furlow palatoplasty). 61
22472247 2012
20
The influence of the Tübingen soft palate plate and early cleft closure on the nasopharyngeal airway for the management of airway obstruction in an infant with Pierre Robin sequence: A case report. 61
23010599 2012
21
Incidence of palatal fistula after palatoplasty with levator veli palatini retropositioning according to Sommerlad. 61
19945200 2010
22
Repair of cleft lip and simultaneous repair of cleft hard palate with vomer flap in unilateral complete cleft lip and palate: a comparative study. 61
20842387 2010
23
Nasopharyngeal teratoma associated with cleft palate in newborn: report of 2 cases. 61
19969490 2010
24
Cleft soft palate reconstruction: prospective study on infection and antibiotics. 61
19481905 2009
25
Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. 61
19449431 2009
26
Prenatal sonographic features of isolated cleft soft palate with anterior axial three-dimensional view reconstruction. 61
18322904 2008
27
Cranial suture biology and dental development: genetic and clinical perspectives. 61
17686002 2007
28
Intraoral features of Apert's syndrome. 61
17466880 2007
29
Real-time magnetic resonance imaging aids prenatal diagnosis of isolated cleft palate. 61
16239657 2005
30
Surgical repair of a cleft soft palate in an alpaca. 61
15825624 2005
31
A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype. 61
16080298 2005
32
Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful? 61
14966745 2004
33
Pierre-Robin syndrome associated with Chiari type I malformation. 61
12748800 2003
34
Surgical cleft soft palate repair in a foal. 61
12019699 2002
35
New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities. 61
11807906 2002
36
Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome? 61
11484203 2001
37
The dentofacial manifestations of XXXXY syndrome: a case report. 61
11310138 2001
38
Lipoma of the cleft soft palate: a case report of a rare congenital anomaly. 61
11034034 2000
39
A retrospective study of hearing, speech and language function in children with clefts following palatoplasty and veloplasty procedures at 18-24 months of age. 61
10595666 1999
40
Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome? 61
9677062 1998
41
Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11. 61
9617702 1998
42
Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. 61
9066878 1997
43
Toriello-Carey syndrome: evidence for X-linked inheritance. 61
8923938 1996
44
Cerebro-costo-mandibular syndrome. 61
8882789 1996
45
Speech results after repair of the cleft soft palate. 61
7761500 1995
46
Confirmation of proximal 1q duplication using fluorescence in situ hybridization. 61
8160749 1994
47
Cerebro-costo-mandibular syndrome. 61
1520180 1992
48
Trisomy 16p in a liveborn infant and review of trisomy 16p. 61
1536169 1992
49
The oral manifestations of Apert syndrome. 61
1572940 1992
50
Configuration of facial profile in adults with isolated cleft palate. 61
1284837 1992

Variations for Cleft Soft Palate

ClinVar genetic disease variations for Cleft Soft Palate:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLOD2 NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)SNV Pathogenic/Likely pathogenic 374012 rs780770356 3:145788912-145788912 3:146071125-146071125
2 PLOD2 NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)SNV Likely pathogenic 374011 rs778360818 3:145797042-145797042 3:146079255-146079255
3 46;XY;t(1;6)(q23;q13)dnTranslocation Uncertain significance 267836
4 46;XY;t(10;17)(p13;q23)dnTranslocation Uncertain significance 268030

Expression for Cleft Soft Palate

Search GEO for disease gene expression data for Cleft Soft Palate.

Pathways for Cleft Soft Palate

GO Terms for Cleft Soft Palate

Cellular components related to Cleft Soft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen type XI trimer GO:0005592 8.62 COL11A2 COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 eyelid development in camera-type eye GO:0061029 8.96 OSR2 GRHL3
2 roof of mouth development GO:0060021 8.92 VAX1 OSR2 IRF6 COL11A2

Sources for Cleft Soft Palate

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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