MCID: CLF028
MIFTS: 28

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 58 12 60 15
Cleft Velum Palatinum 12 60
Cleft Velum 12 60
Cleft of Soft Palate 6
Soft Cleft Palate 12

Characteristics:

Orphanet epidemiological data:

60
cleft velum
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cleft soft palate:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110214
OMIM 58 119570
ICD10 via Orphanet 35 Q35.3
UMLS via Orphanet 75 C0432098
Orphanet 60 ORPHA99772
MedGen 43 C0432098
SNOMED-CT via HPO 70 253997002 263681008

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), and among its related pathways/superpathways is Diseases of metabolism. Affiliated tissues include eye, and related phenotypes are cleft soft palate and craniofacial

Description 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 12)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 31.3 COL11A2 GRHL3 TBX22 UBB
2 cleft hard palate 30.7 GRHL3 UBB
3 otopalatodigital syndrome, type ii 11.3
4 tarp syndrome 11.2
5 cleft lip/palate 11.0
6 uvula, bifid 10.1 GRHL3 UBB
7 submucosal cleft palate 10.0 GRHL3 UBB
8 lipomatosis, multiple 10.0
9 pleomorphic lipoma 10.0
10 ankylosis 10.0
11 cleft lip 10.0
12 hard palate cancer 9.7 PCCA TBX22

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:

33
# Description HPO Frequency HPO Source Accession
1 cleft soft palate 33 HP:0000185

Symptoms via clinical synopsis from OMIM:

58
Mouth:
cleft soft palate

Clinical features from OMIM:

119570

MGI Mouse Phenotypes related to Cleft Soft Palate:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 COL11A2 GRHL3 TBX22 TTC28

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:

42
Eye

Publications for Cleft Soft Palate

Articles related to Cleft Soft Palate:

(show all 18)
# Title Authors Year
1
Induced ankylosis of primary canines for absolute anchorage in the treatment of a patient with Class III malocclusion and cleft soft palate. ( 30826043 )
2019
2
Soft palate bi-pedicle flaps: A modification of VY repair of cleft soft palate in twenty-six patients. ( 30729715 )
2019
3
A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate. ( 28393073 )
2017
4
Speech outcome after early repair of cleft soft palate using Furlow technique. ( 23116906 )
2013
5
Cleft soft palate reconstruction: prospective study on infection and antibiotics. ( 19481905 )
2009
6
Prenatal sonographic features of isolated cleft soft palate with anterior axial three-dimensional view reconstruction. ( 18322904 )
2008
7
Surgical repair of a cleft soft palate in an alpaca. ( 15825624 )
2005
8
Surgical cleft soft palate repair in a foal. ( 12019699 )
2002
9
Lipoma of the cleft soft palate: a case report of a rare congenital anomaly. ( 11034034 )
2000
10
Speech results after repair of the cleft soft palate. ( 7761500 )
1995
11
Chronic nephritis, sensorineural deafness, growth and developmental retardation, hyperkinesis, and cleft soft palate in a 5-year-old boy. A new combination? ( 2243580 )
1990
12
Cat's eye syndrome with cleft soft palate. ( 3856414 )
1985
13
Cleft soft palate, nasal septal deviation, and epiglottic entrapment in a thoroughbred filly. ( 7341609 )
1981
14
Surgical repair of cleft soft palate in the horse. ( 319588 )
1977
15
Surgical repair of cleft soft palate in the horse. ( 847875 )
1977
16
Surgical repair of cleft soft palate in the horse. ( 867750 )
1977
17
Surgical repair of cleft soft palate in a foal. ( 4486938 )
1973
18
Surgical closure of cleft soft palate in a dog. ( 5101874 )
1971

Variations for Cleft Soft Palate

ClinVar genetic disease variations for Cleft Soft Palate:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(10;17)(p13;q23)dn Translocation Uncertain significance
2 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh37 Chromosome 3, 145788912: 145788912
3 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh38 Chromosome 3, 146071125: 146071125
4 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh38 Chromosome 3, 146079255: 146079255
5 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh37 Chromosome 3, 145797042: 145797042
6 46;XY;t(1;6)(q23;q13)dn Translocation Uncertain significance

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

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 8.62 COL11A2 PLOD2

Sources for Cleft Soft Palate

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
Content
Loading form....