MCID: CLF028
MIFTS: 38

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 57 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®:

57 (Updated 20-May-2021)
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® 57 119570
ICD10 via Orphanet 33 Q35.3
UMLS via Orphanet 71 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 hard palate and cleft lip/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 48)
# Related Disease Score Top Affiliating Genes
1 cleft hard palate 30.9 UBB GRHL3
2 cleft lip/palate 30.9 TBX22 IRF6 CEP120
3 cleft palate, isolated 30.5 VAX1 TGFBR2 TBX22 OSR2 IRF6 GRHL3
4 cleft lip 29.9 VAX1 IRF6 GRHL3
5 otopalatodigital syndrome, type ii 11.1
6 tarp syndrome 11.1
7 cleft lip with or without cleft palate 10.4
8 submucosal cleft palate 10.4 UBB GRHL3
9 uvula, bifid 10.3 UBB GRHL3
10 fetal encasement syndrome 10.2 IRF6 GRHL3
11 cleft palate with or without ankyloglossia, x-linked 10.2 TBX22 OSR2
12 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.2 TBX22 IRF6
13 chromosome 18q deletion syndrome 10.1 TTC28 TSHZ1 NETO1
14 combined oxidative phosphorylation deficiency 5 10.1 MRPS22 COPB2
15 kohler's disease 10.1 COL11A2 COL11A1
16 autosomal recessive stickler syndrome 10.0 COL11A2 COL11A1
17 vitreous syneresis 10.0 COL11A2 COL11A1
18 pierre robin syndrome 10.0
19 isolated pierre robin sequence 10.0
20 fibrochondrogenesis 1 10.0 COL11A2 COL11A1
21 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL11A2 COL11A1
22 ankyloglossia with or without tooth anomalies 10.0 TTC28 TBX22 PITPNB IRF6
23 retinal perforation 10.0 COL11A2 COL11A1
24 coloboma of macula 10.0
25 hypertelorism 10.0
26 lipomatosis, multiple 10.0
27 pulmonary arteriovenous fistulas 10.0
28 branchiootic syndrome 1 10.0
29 striatal degeneration, autosomal dominant 2 10.0
30 x-linked alport syndrome 10.0
31 pleomorphic lipoma 10.0
32 microphthalmia 10.0
33 alport syndrome 10.0
34 nephrotic syndrome 10.0
35 ankylosis 10.0
36 skin tag 10.0
37 branchiooculofacial syndrome 10.0 VAX1 TBX22 IRF6
38 kniest dysplasia 10.0 COL11A2 COL11A1
39 lymphoid interstitial pneumonia 10.0 VAX1 TBX22 IRF6
40 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.9 COL11A2 COL11A1
41 ankyloblepharon-ectodermal defects-cleft lip/palate 9.9 IRF6 GRHL3
42 popliteal pterygium syndrome 9.9 VAX1 TBX22 IRF6 GRHL3
43 van der woude syndrome 1 9.9 VAX1 TBX22 IRF6 GRHL3
44 physical disorder 9.9 VAX1 TBX22 IRF6 GRHL3
45 schneckenbecken dysplasia 9.9 COL11A2 COL11A1
46 marshall syndrome 9.8 COL11A2 COL11A1
47 stickler syndrome 9.8 TBX22 IRF6 COL11A2 COL11A1
48 orofacial cleft 9.1 VAX1 TGFBR2 TBX22 OSR2 IRF6 GRHL3

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®:

57 (Updated 20-May-2021)
Mouth:
cleft soft palate

Clinical features from OMIM®:

119570 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cleft Soft Palate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.11 COL11A1 COL11A2 COPB2 GRHL3 IRF6 OSR2
2 growth/size/body region MP:0005378 10 CEP120 COL11A1 COL11A2 COPB2 GRHL3 IRF6
3 digestive/alimentary MP:0005381 9.92 COL11A1 GRHL3 IRF6 OSR2 TBX22 TGFBR2
4 embryo MP:0005380 9.91 CEP120 COL11A1 COPB2 GRHL3 IRF6 MRPS22
5 mortality/aging MP:0010768 9.8 CEP120 COL11A1 COPB2 GRHL3 IRF6 MRPS22
6 skeleton MP:0005390 9.4 CEP120 COL11A1 COL11A2 GRHL3 IRF6 MRPS22

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, Skin

Publications for Cleft Soft Palate

Articles related to Cleft Soft Palate:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Dominant inheritance of cleft of the soft palate. 57
7372339 1980
2
An orthodontic perspective on Larsen syndrome. 61
33691679 2021
3
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. 61
31472299 2020
4
Transforming Growth Factor-Beta and Sonic Hedgehog Signaling in Palatal Epithelium Regulate Tenascin-C Expression in Palatal Mesenchyme During Soft Palate Development. 61
32581832 2020
5
Soft palate bi-pedicle flaps: A modification of VY repair of cleft soft palate in twenty-six patients. 61
30729715 2019
6
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
7
Dynamic activation of Wnt, Fgf, and Hh signaling during soft palate development. 61
31613912 2019
8
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
9
Impact of early intravelar veloplasty at six months on mandibular growth in patients with Pierre Robin Sequence. 61
29793779 2018
10
A Descriptive Study of Chlorhexidine as a Disinfectant in Cleft Palate Surgery. 61
29724746 2018
11
Surgical Management of Duplication of the Pituitary Gland-Plus Syndrome With Epignathus, Cleft Palate, Duplication of Mandible, and Lobulated Tongue. 61
28027175 2017
12
A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate. 61
28393073 2017
13
Ascher's syndrome: A rare case report. 61
25971175 2015
14
Furlow double-opposing z-plasty. 61
25733234 2015
15
The influence of the extend of isolated palatal cleft on craniofacial morphology. 61
24011467 2014
16
Centre-based statistics of cleft lip with/without alveolus and palate as well as cleft palate only patients in Aden, Yemen. 61
23849245 2014
17
TGFβ regulates epithelial-mesenchymal interactions through WNT signaling activity to control muscle development in the soft palate. 61
24496627 2014
18
Three-dimensional ultrasound demonstration of the fetal palate in high-risk patients: the accuracy of prenatal visualization. 61
23494892 2013
19
Speech outcome after early repair of cleft soft palate using Furlow technique. 61
23116906 2013
20
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
21
Double-reversing z-plasty (Furlow palatoplasty). 61
22472247 2012
22
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
23
Incidence of palatal fistula after palatoplasty with levator veli palatini retropositioning according to Sommerlad. 61
19945200 2010
24
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
25
Nasopharyngeal teratoma associated with cleft palate in newborn: report of 2 cases. 61
19969490 2010
26
Cleft soft palate reconstruction: prospective study on infection and antibiotics. 61
19481905 2009
27
Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. 61
19449431 2009
28
Prenatal sonographic features of isolated cleft soft palate with anterior axial three-dimensional view reconstruction. 61
18322904 2008
29
Cranial suture biology and dental development: genetic and clinical perspectives. 61
17686002 2007
30
Intraoral features of Apert's syndrome. 61
17466880 2007
31
Real-time magnetic resonance imaging aids prenatal diagnosis of isolated cleft palate. 61
16239657 2005
32
Surgical repair of a cleft soft palate in an alpaca. 61
15825624 2005
33
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
34
Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful? 61
14966745 2004
35
Pierre-Robin syndrome associated with Chiari type I malformation. 61
12748800 2003
36
Surgical cleft soft palate repair in a foal. 61
12019699 2002
37
New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities. 61
11807906 2002
38
Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome? 61
11484203 2001
39
The dentofacial manifestations of XXXXY syndrome: a case report. 61
11310138 2001
40
Lipoma of the cleft soft palate: a case report of a rare congenital anomaly. 61
11034034 2000
41
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
42
Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome? 61
9677062 1998
43
Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11. 61
9617702 1998
44
Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. 61
9066878 1997
45
Toriello-Carey syndrome: evidence for X-linked inheritance. 61
8923938 1996
46
Cerebro-costo-mandibular syndrome. 61
8882789 1996
47
Speech results after repair of the cleft soft palate. 61
7761500 1995
48
Confirmation of proximal 1q duplication using fluorescence in situ hybridization. 61
8160749 1994
49
Cerebro-costo-mandibular syndrome. 61
1520180 1992
50
Trisomy 16p in a liveborn infant and review of trisomy 16p. 61
1536169 1992

Variations for Cleft Soft Palate

ClinVar genetic disease variations for Cleft Soft Palate:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLOD2 NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) SNV Likely pathogenic 374011 rs778360818 GRCh37: 3:145797042-145797042
GRCh38: 3:146079255-146079255
2 PLOD2 NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) SNV Likely pathogenic 374012 rs780770356 GRCh37: 3:145788912-145788912
GRCh38: 3:146071125-146071125

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 cartilage development GO:0051216 9.33 TGFBR2 COL11A2 COL11A1
2 middle ear morphogenesis GO:0042474 9.32 TSHZ1 OSR2
3 eyelid development in camera-type eye GO:0061029 9.26 OSR2 GRHL3
4 soft palate development GO:0060023 8.96 TSHZ1 COL11A2
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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