MCID: CLF028
MIFTS: 31

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 59 15
Cleft Velum Palatinum 12 59
Cleft Velum 12 59
Cleft of Soft Palate 6
Soft Cleft Palate 12

Characteristics:

Orphanet epidemiological data:

59
cleft velum
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cleft soft palate:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 119570
Disease Ontology 12 DOID:0110214
Orphanet 59 ORPHA99772
ICD10 via Orphanet 34 Q35.3
UMLS via Orphanet 74 C0432098
MedGen 42 C0432098
SNOMED-CT via HPO 69 263681008 253997002

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 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 11)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 31.8 UBB TBX22 GRHL3 COL11A2
2 cleft hard palate 30.8 UBB GRHL3
3 otopalatodigital syndrome, type ii 11.2
4 tarp syndrome 11.1
5 cleft lip/palate 11.0
6 submucosal cleft palate 10.1 UBB GRHL3
7 uvula, bifid 10.0 UBB GRHL3
8 cleft lip 10.0
9 branchiootorenal syndrome 9.9 TAP1 HOXA2
10 coloboma of macula 9.8 TBX22 HOXA2
11 orofacial cleft 9.7 TBX22 TBX1 HOXA2 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

Symptoms via clinical synopsis from OMIM:

57
Mouth:
cleft soft palate


Clinical features from OMIM:

119570

Human phenotypes related to Cleft Soft Palate:

32
# Description HPO Frequency HPO Source Accession
1 cleft soft palate 32 HP:0000185

MGI Mouse Phenotypes related to Cleft Soft Palate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 COL11A2 GRHL3 HOXA2 TBX1 TBX22 TTC28
2 skeleton MP:0005390 9.1 COL11A2 GRHL3 HOXA2 TBX1 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:

41
Eye

Publications for Cleft Soft Palate

Articles related to Cleft Soft Palate:

(show all 16)
# Title Authors Year
1
A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate. ( 28393073 )
2017
2
Speech outcome after early repair of cleft soft palate using Furlow technique. ( 23116906 )
2013
3
Cleft soft palate reconstruction: prospective study on infection and antibiotics. ( 19481905 )
2009
4
Prenatal sonographic features of isolated cleft soft palate with anterior axial three-dimensional view reconstruction. ( 18322904 )
2008
5
Surgical repair of a cleft soft palate in an alpaca. ( 15825624 )
2005
6
Surgical cleft soft palate repair in a foal. ( 12019699 )
2002
7
Lipoma of the cleft soft palate: a case report of a rare congenital anomaly. ( 11034034 )
2000
8
Speech results after repair of the cleft soft palate. ( 7761500 )
1995
9
Chronic nephritis, sensorineural deafness, growth and developmental retardation, hyperkinesis, and cleft soft palate in a 5-year-old boy. A new combination? ( 2243580 )
1990
10
Cat's eye syndrome with cleft soft palate. ( 3856414 )
1985
11
Cleft soft palate, nasal septal deviation, and epiglottic entrapment in a thoroughbred filly. ( 7341609 )
1981
12
Surgical repair of cleft soft palate in the horse. ( 847875 )
1977
13
Surgical repair of cleft soft palate in the horse. ( 319588 )
1977
14
Surgical repair of cleft soft palate in the horse. ( 867750 )
1977
15
Surgical repair of cleft soft palate in a foal. ( 4486938 )
1973
16
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 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh37 Chromosome 3, 145788912: 145788912
2 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh38 Chromosome 3, 146071125: 146071125
3 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh38 Chromosome 3, 146079255: 146079255
4 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh37 Chromosome 3, 145797042: 145797042

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 cellular response to retinoic acid GO:0071300 9.4 HOXA2 TBX1
2 collagen fibril organization GO:0030199 9.37 COL11A2 PLOD2
3 cochlea morphogenesis GO:0090103 9.32 GRHL3 TBX1
4 middle ear morphogenesis GO:0042474 9.26 HOXA2 TBX1
5 embryonic viscerocranium morphogenesis GO:0048703 9.16 HOXA2 TBX1
6 pattern specification process GO:0007389 9.13 GRHL3 HOXA2 TBX1
7 soft palate development GO:0060023 8.62 COL11A2 TBX1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 8.92 GRHL3 HOXA2 TBX1 TBX22

Sources for Cleft Soft Palate

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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