CPX
MCID: CLF053
MIFTS: 36

Cleft Palate with or Without Ankyloglossia, X-Linked (CPX)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cleft Palate with or Without Ankyloglossia, X-Linked

MalaCards integrated aliases for Cleft Palate with or Without Ankyloglossia, X-Linked:

Name: Cleft Palate with or Without Ankyloglossia, X-Linked 58 76
Cleft Palate with Ankyloglossia 58 38 13 6
X-Linked Cleft Palate with or Without Ankyloglossia 12 15
X-Linked Cleft Palate and Ankyloglossia 12 60
Cpx 58 76
Cleft Palate, with/without Ankyloglossia, X-Linked 41
X-Linked Cleft Palate with Ankyloglossia 76

Characteristics:

Orphanet epidemiological data:

60
x-linked cleft palate and ankyloglossia
Inheritance: X-linked dominant,X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked


HPO:

33
cleft palate with or without ankyloglossia, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060613
OMIM 58 303400
KEGG 38 H00909
MeSH 45 D002972
ICD10 34 Q37 Q37.8 Q37.9
Orphanet 60 ORPHA324601

Summaries for Cleft Palate with or Without Ankyloglossia, X-Linked

UniProtKB/Swiss-Prot : 76 Cleft palate with or without ankyloglossia, X-linked: A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue.

MalaCards based summary : Cleft Palate with or Without Ankyloglossia, X-Linked, also known as cleft palate with ankyloglossia, is related to cleft palate, isolated and cleft palate x-linked. An important gene associated with Cleft Palate with or Without Ankyloglossia, X-Linked is TBX22 (T-Box 22), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include tongue, and related phenotypes are cleft palate and bifid uvula

Disease Ontology : 12 A cleft palate that has_material_basis in mutation in the TBX22 gene on chromosome Xq21.

Description from OMIM: 303400

Related Diseases for Cleft Palate with or Without Ankyloglossia, X-Linked

Diseases related to Cleft Palate with or Without Ankyloglossia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 30.1 BMP4 MSX1 SMCP TBX22
2 cleft palate x-linked 11.5
3 coproporphyria, hereditary 11.2
4 ankyloglossia 10.4
5 cholera 10.3
6 cystic fibrosis 10.2
7 posterior hypospadias 10.2
8 neuroendocrine neoplasm of appendix 10.2
9 abruzzo-erickson syndrome 10.2
10 tooth size 10.0 BMP4 FGF8 MSX1
11 systolic heart failure 10.0
12 rere-related disorders 10.0
13 syngnathia 10.0 BMP4 FGF8 MSX1
14 axenfeld-rieger syndrome, type 1 10.0 BMP4 FGF8
15 cleft lip/palate 10.0 BMP4 MSX1 TBX22
16 agnathia-otocephaly complex 10.0 BMP4 FGF8 MSX1
17 proximal symphalangism 9.9 BMP4 PAEP
18 multiple synostoses syndrome 9.8 BMP4 PAEP
19 orofacial cleft 9.7 BMP4 MSX1 SMCP
20 hard palate cancer 9.6 MSX1 NOTCH1 SMCP TBX22
21 physical disorder 9.5 BMP4 FGF8 MSX1 SMCP TBX22

Graphical network of the top 20 diseases related to Cleft Palate with or Without Ankyloglossia, X-Linked:



Diseases related to Cleft Palate with or Without Ankyloglossia, X-Linked

Symptoms & Phenotypes for Cleft Palate with or Without Ankyloglossia, X-Linked

Human phenotypes related to Cleft Palate with or Without Ankyloglossia, X-Linked:

33
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 HP:0000175
2 bifid uvula 33 HP:0000193
3 ankyloglossia 33 HP:0010296

Symptoms via clinical synopsis from OMIM:

58
Mouth:
ankyloglossia
palatopharyngeal incompetence
incomplete cleft palate

Misc:
bifid uvula in heterozygous females

Clinical features from OMIM:

303400

MGI Mouse Phenotypes related to Cleft Palate with or Without Ankyloglossia, X-Linked:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.02 BMP4 FGF8 MSX1 NOTCH1 TBX22

Drugs & Therapeutics for Cleft Palate with or Without Ankyloglossia, X-Linked

Search Clinical Trials , NIH Clinical Center for Cleft Palate with or Without Ankyloglossia, X-Linked

Genetic Tests for Cleft Palate with or Without Ankyloglossia, X-Linked

Anatomical Context for Cleft Palate with or Without Ankyloglossia, X-Linked

MalaCards organs/tissues related to Cleft Palate with or Without Ankyloglossia, X-Linked:

42
Tongue

Publications for Cleft Palate with or Without Ankyloglossia, X-Linked

Articles related to Cleft Palate with or Without Ankyloglossia, X-Linked:

# Title Authors Year
1
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. ( 22784330 )
2013

Variations for Cleft Palate with or Without Ankyloglossia, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Cleft Palate with or Without Ankyloglossia, X-Linked:

76
# Symbol AA change Variation ID SNP ID
1 TBX22 p.Gly118Cys VAR_015383 rs104894944
2 TBX22 p.Thr260Met VAR_015384 rs104894943
3 TBX22 p.Leu214Pro VAR_021829 rs104894946
4 TBX22 p.Asn264Tyr VAR_021830 rs28935177
5 TBX22 p.Met121Val VAR_021831
6 TBX22 p.Pro183Leu VAR_021832

ClinVar genetic disease variations for Cleft Palate with or Without Ankyloglossia, X-Linked:

6 (show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX22 TBX22, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
2 TBX22 TBX22, IVS6, G-C, +1 single nucleotide variant Pathogenic
3 TBX22 NM_001109878.1(TBX22): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic rs104894943 GRCh37 Chromosome X, 79282348: 79282348
4 TBX22 NM_001109878.1(TBX22): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic rs104894943 GRCh38 Chromosome X, 80026849: 80026849
5 TBX22 NM_001109878.1(TBX22): c.352G> T (p.Gly118Cys) single nucleotide variant Pathogenic rs104894944 GRCh37 Chromosome X, 79278735: 79278735
6 TBX22 NM_001109878.1(TBX22): c.352G> T (p.Gly118Cys) single nucleotide variant Pathogenic rs104894944 GRCh38 Chromosome X, 80023236: 80023236
7 TBX22 TBX22, 1-BP DEL, 671C deletion Pathogenic
8 TBX22 NM_001109878.1(TBX22): c.166G> T (p.Glu56Ter) single nucleotide variant Pathogenic rs104894945 GRCh37 Chromosome X, 79277934: 79277934
9 TBX22 NM_001109878.1(TBX22): c.166G> T (p.Glu56Ter) single nucleotide variant Pathogenic rs104894945 GRCh38 Chromosome X, 80022435: 80022435
10 TBX22 NM_001109878.1(TBX22): c.641T> C (p.Leu214Pro) single nucleotide variant Pathogenic rs104894946 GRCh37 Chromosome X, 79282210: 79282210
11 TBX22 NM_001109878.1(TBX22): c.641T> C (p.Leu214Pro) single nucleotide variant Pathogenic rs104894946 GRCh38 Chromosome X, 80026711: 80026711
12 TBX22 TBX22, 3-BP DUP, 583GCT duplication Pathogenic
13 TBX22 NM_001109878.1(TBX22): c.790A> T (p.Asn264Tyr) single nucleotide variant Pathogenic rs28935177 GRCh37 Chromosome X, 79282359: 79282359
14 TBX22 NM_001109878.1(TBX22): c.790A> T (p.Asn264Tyr) single nucleotide variant Pathogenic rs28935177 GRCh38 Chromosome X, 80026860: 80026860
15 TBX22 TBX22, 1-BP DEL, 1252G deletion Pathogenic
16 TBX22 NM_001109878.1(TBX22): c.72C> T (p.Leu24=) single nucleotide variant Likely benign rs138387312 GRCh37 Chromosome X, 79277840: 79277840
17 TBX22 NM_001109878.1(TBX22): c.72C> T (p.Leu24=) single nucleotide variant Likely benign rs138387312 GRCh38 Chromosome X, 80022341: 80022341
18 TBX22 NM_001109878.1(TBX22): c.559G> A (p.Glu187Lys) single nucleotide variant Likely benign rs34244923 GRCh37 Chromosome X, 79281202: 79281202
19 TBX22 NM_001109878.1(TBX22): c.559G> A (p.Glu187Lys) single nucleotide variant Likely benign rs34244923 GRCh38 Chromosome X, 80025703: 80025703
20 TBX22 NM_001109878.1(TBX22): c.1544C> A (p.Ala515Glu) single nucleotide variant Uncertain significance rs201336957 GRCh37 Chromosome X, 79286591: 79286591
21 TBX22 NM_001109878.1(TBX22): c.1544C> A (p.Ala515Glu) single nucleotide variant Uncertain significance rs201336957 GRCh38 Chromosome X, 80031092: 80031092
22 TBX22 NM_001109878.1(TBX22): c.*6C> A single nucleotide variant Likely benign rs137881052 GRCh37 Chromosome X, 79286616: 79286616
23 TBX22 NM_001109878.1(TBX22): c.*6C> A single nucleotide variant Likely benign rs137881052 GRCh38 Chromosome X, 80031117: 80031117
24 TBX22 NM_001109878.1(TBX22): c.*57A> T single nucleotide variant Uncertain significance rs1057515991 GRCh37 Chromosome X, 79286667: 79286667
25 TBX22 NM_001109878.1(TBX22): c.*57A> T single nucleotide variant Uncertain significance rs1057515991 GRCh38 Chromosome X, 80031168: 80031168
26 TBX22 NM_001109878.1(TBX22): c.*347T> C single nucleotide variant Likely benign rs142483621 GRCh37 Chromosome X, 79286957: 79286957
27 TBX22 NM_001109878.1(TBX22): c.*347T> C single nucleotide variant Likely benign rs142483621 GRCh38 Chromosome X, 80031458: 80031458
28 TBX22 NM_001109878.1(TBX22): c.-2-7C> A single nucleotide variant Likely benign rs185298778 GRCh37 Chromosome X, 79277760: 79277760
29 TBX22 NM_001109878.1(TBX22): c.-2-7C> A single nucleotide variant Likely benign rs185298778 GRCh38 Chromosome X, 80022261: 80022261
30 TBX22 NM_001109878.1(TBX22): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance rs765734398 GRCh37 Chromosome X, 79281197: 79281197
31 TBX22 NM_001109878.1(TBX22): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance rs765734398 GRCh38 Chromosome X, 80025698: 80025698
32 TBX22 NM_001109878.1(TBX22): c.883T> C (p.Leu295=) single nucleotide variant Likely benign rs195293 GRCh37 Chromosome X, 79283509: 79283509
33 TBX22 NM_001109878.1(TBX22): c.883T> C (p.Leu295=) single nucleotide variant Likely benign rs195293 GRCh38 Chromosome X, 80028010: 80028010
34 TBX22 NM_001109878.1(TBX22): c.949+12T> G single nucleotide variant Likely benign rs151121450 GRCh37 Chromosome X, 79283587: 79283587
35 TBX22 NM_001109878.1(TBX22): c.949+12T> G single nucleotide variant Likely benign rs151121450 GRCh38 Chromosome X, 80028088: 80028088
36 TBX22 NM_001109878.1(TBX22): c.-23A> G single nucleotide variant Likely benign rs147593294 GRCh37 Chromosome X, 79270366: 79270366
37 TBX22 NM_001109878.1(TBX22): c.-23A> G single nucleotide variant Likely benign rs147593294 GRCh38 Chromosome X, 80014867: 80014867
38 TBX22 NM_001109878.1(TBX22): c.*533A> T single nucleotide variant Uncertain significance rs770782241 GRCh37 Chromosome X, 79287143: 79287143
39 TBX22 NM_001109878.1(TBX22): c.*533A> T single nucleotide variant Uncertain significance rs770782241 GRCh38 Chromosome X, 80031644: 80031644
40 TBX22 NM_001109878.1(TBX22): c.-103G> A single nucleotide variant Likely benign rs73496511 GRCh37 Chromosome X, 79270286: 79270286
41 TBX22 NM_001109878.1(TBX22): c.-103G> A single nucleotide variant Likely benign rs73496511 GRCh38 Chromosome X, 80014787: 80014787
42 TBX22 NM_001109878.1(TBX22): c.-28G> A single nucleotide variant Uncertain significance rs746947861 GRCh37 Chromosome X, 79270361: 79270361
43 TBX22 NM_001109878.1(TBX22): c.-28G> A single nucleotide variant Uncertain significance rs746947861 GRCh38 Chromosome X, 80014862: 80014862
44 TBX22 NM_001109878.1(TBX22): c.798+11T> C single nucleotide variant Likely benign rs199643713 GRCh37 Chromosome X, 79282378: 79282378
45 TBX22 NM_001109878.1(TBX22): c.798+11T> C single nucleotide variant Likely benign rs199643713 GRCh38 Chromosome X, 80026879: 80026879
46 TBX22 NM_001109878.1(TBX22): c.1412C> T (p.Ser471Phe) single nucleotide variant Uncertain significance rs1057515990 GRCh37 Chromosome X, 79286459: 79286459
47 TBX22 NM_001109878.1(TBX22): c.1412C> T (p.Ser471Phe) single nucleotide variant Uncertain significance rs1057515990 GRCh38 Chromosome X, 80030960: 80030960
48 TBX22 NM_001109878.1(TBX22): c.*97C> A single nucleotide variant Uncertain significance rs757571902 GRCh37 Chromosome X, 79286707: 79286707
49 TBX22 NM_001109878.1(TBX22): c.*97C> A single nucleotide variant Uncertain significance rs757571902 GRCh38 Chromosome X, 80031208: 80031208

Expression for Cleft Palate with or Without Ankyloglossia, X-Linked

Search GEO for disease gene expression data for Cleft Palate with or Without Ankyloglossia, X-Linked.

Pathways for Cleft Palate with or Without Ankyloglossia, X-Linked

GO Terms for Cleft Palate with or Without Ankyloglossia, X-Linked

Biological processes related to Cleft Palate with or Without Ankyloglossia, X-Linked according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.99 BMP4 FGF8 MSX1 NOTCH1 PAEP TBX22
2 negative regulation of transcription, DNA-templated GO:0045892 9.95 BMP4 MSX1 NOTCH1 TBX22
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.84 BMP4 FGF8 NOTCH1
4 heart development GO:0007507 9.78 BMP4 FGF8 MSX1 NOTCH1
5 lung development GO:0030324 9.71 BMP4 FGF8 NOTCH1
6 BMP signaling pathway GO:0030509 9.7 BMP4 FGF8 MSX1
7 heart morphogenesis GO:0003007 9.68 FGF8 MSX1
8 positive chemotaxis GO:0050918 9.68 BMP4 FGF8
9 positive regulation of cell differentiation GO:0045597 9.67 BMP4 FGF8
10 positive regulation of epithelial to mesenchymal transition GO:0010718 9.67 BMP4 NOTCH1
11 branching involved in ureteric bud morphogenesis GO:0001658 9.67 BMP4 FGF8
12 forebrain development GO:0030900 9.67 BMP4 MSX1 NOTCH1
13 epithelial to mesenchymal transition GO:0001837 9.66 MSX1 NOTCH1
14 metanephros development GO:0001656 9.65 BMP4 FGF8
15 protein localization to nucleus GO:0034504 9.65 BMP4 MSX1
16 endoderm development GO:0007492 9.64 BMP4 NOTCH1
17 neuron fate commitment GO:0048663 9.64 BMP4 NOTCH1
18 pituitary gland development GO:0021983 9.63 BMP4 MSX1
19 telencephalon development GO:0021537 9.63 BMP4 FGF8
20 outflow tract septum morphogenesis GO:0003148 9.62 BMP4 FGF8
21 branching morphogenesis of an epithelial tube GO:0048754 9.62 BMP4 NOTCH1
22 negative regulation of myoblast differentiation GO:0045662 9.61 BMP4 NOTCH1
23 aortic valve morphogenesis GO:0003180 9.61 BMP4 NOTCH1
24 lung morphogenesis GO:0060425 9.6 BMP4 FGF8
25 signal transduction involved in regulation of gene expression GO:0023019 9.59 FGF8 MSX1
26 positive regulation of endothelial cell differentiation GO:0045603 9.58 BMP4 NOTCH1
27 pulmonary valve morphogenesis GO:0003184 9.58 BMP4 NOTCH1
28 cell fate commitment GO:0045165 9.58 BMP4 FGF8 NOTCH1
29 endocardial cushion development GO:0003197 9.57 BMP4 NOTCH1
30 mesonephros development GO:0001823 9.56 BMP4 FGF8
31 organ induction GO:0001759 9.55 BMP4 FGF8
32 embryonic limb morphogenesis GO:0030326 9.54 BMP4 MSX1 NOTCH1
33 outflow tract morphogenesis GO:0003151 9.5 BMP4 FGF8 NOTCH1
34 BMP signaling pathway involved in heart development GO:0061312 9.46 BMP4 MSX1
35 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.43 BMP4 FGF8
36 odontogenesis GO:0042476 9.43 BMP4 FGF8 MSX1
37 positive regulation of BMP signaling pathway GO:0030513 9.33 BMP4 MSX1 NOTCH1
38 embryonic hindlimb morphogenesis GO:0035116 9.26 BMP4 FGF8 MSX1 NOTCH1
39 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 8.92 BMP4 FGF8 MSX1 NOTCH1

Molecular functions related to Cleft Palate with or Without Ankyloglossia, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemoattractant activity GO:0042056 8.62 BMP4 FGF8

Sources for Cleft Palate with or Without Ankyloglossia, X-Linked

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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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