CPX
MCID: CLF021
MIFTS: 14

Cleft Palate X-Linked (CPX)

Categories: Rare diseases

Aliases & Classifications for Cleft Palate X-Linked

MalaCards integrated aliases for Cleft Palate X-Linked:

Name: Cleft Palate X-Linked 53 29 6
Cleft Palate, X-Linked 73
X-Linked Cleft Palate 53
Cpx 53

Classifications:



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UMLS 73 C1844830

Summaries for Cleft Palate X-Linked

MalaCards based summary : Cleft Palate X-Linked, also known as cleft palate, x-linked, is related to coproporphyria, hereditary and cleft palate with or without ankyloglossia, x-linked. An important gene associated with Cleft Palate X-Linked is TBX22 (T-Box 22). Affiliated tissues include heart.

Related Diseases for Cleft Palate X-Linked

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

# Related Disease Score Top Affiliating Genes
1 coproporphyria, hereditary 11.2
2 cleft palate with or without ankyloglossia, x-linked 11.2
3 cleft palate, isolated 10.4
4 ankyloglossia 10.4
5 cystic fibrosis 10.3
6 cholera 10.3
7 systolic heart failure 10.0

Graphical network of the top 20 diseases related to Cleft Palate X-Linked:



Diseases related to Cleft Palate X-Linked

Symptoms & Phenotypes for Cleft Palate X-Linked

Drugs & Therapeutics for Cleft Palate X-Linked

Search Clinical Trials , NIH Clinical Center for Cleft Palate X-Linked

Genetic Tests for Cleft Palate X-Linked

Genetic tests related to Cleft Palate X-Linked:

# Genetic test Affiliating Genes
1 Cleft Palate X-Linked 29 TBX22

Anatomical Context for Cleft Palate X-Linked

MalaCards organs/tissues related to Cleft Palate X-Linked:

41
Heart

Publications for Cleft Palate X-Linked

Articles related to Cleft Palate X-Linked:

(show all 12)
# Title Authors Year
1
TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. ( 17846996 )
2007
2
Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. ( 12412015 )
2002
3
Cloning and expression analysis of the chick ortholog of TBX22, the gene mutated in X-linked cleft palate and ankyloglossia. ( 12204278 )
2002
4
Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and ankyloglossia (CPX) critical region. ( 11401425 )
2001
5
Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. ( 11499681 )
2001
6
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. ( 11559848 )
2001
7
Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. ( 8808277 )
1996
8
Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred. ( 7868130 )
1995
9
Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds. ( 8045560 )
1994
10
The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. ( 8244369 )
1993
11
The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. ( 1570839 )
1992
12
X-linked cleft palate and ankyloglossia in an Icelandic family. ( 2563678 )
1989

Variations for Cleft Palate X-Linked

ClinVar genetic disease variations for Cleft Palate X-Linked:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX22 TBX22, 1-BP DEL, 1252G deletion Pathogenic
2 TBX22 NM_001109878.1(TBX22): c.72C> T (p.Leu24=) single nucleotide variant Likely benign rs138387312 GRCh37 Chromosome X, 79277840: 79277840
3 TBX22 NM_001109878.1(TBX22): c.72C> T (p.Leu24=) single nucleotide variant Likely benign rs138387312 GRCh38 Chromosome X, 80022341: 80022341
4 TBX22 NM_001109878.1(TBX22): c.559G> A (p.Glu187Lys) single nucleotide variant Likely benign rs34244923 GRCh37 Chromosome X, 79281202: 79281202
5 TBX22 NM_001109878.1(TBX22): c.559G> A (p.Glu187Lys) single nucleotide variant Likely benign rs34244923 GRCh38 Chromosome X, 80025703: 80025703
6 TBX22 NM_001109878.1(TBX22): c.1544C> A (p.Ala515Glu) single nucleotide variant Uncertain significance rs201336957 GRCh37 Chromosome X, 79286591: 79286591
7 TBX22 NM_001109878.1(TBX22): c.1544C> A (p.Ala515Glu) single nucleotide variant Uncertain significance rs201336957 GRCh38 Chromosome X, 80031092: 80031092
8 TBX22 NM_001109878.1(TBX22): c.*6C> A single nucleotide variant Likely benign rs137881052 GRCh37 Chromosome X, 79286616: 79286616
9 TBX22 NM_001109878.1(TBX22): c.*6C> A single nucleotide variant Likely benign rs137881052 GRCh38 Chromosome X, 80031117: 80031117
10 TBX22 NM_001109878.1(TBX22): c.*57A> T single nucleotide variant Uncertain significance rs1057515991 GRCh37 Chromosome X, 79286667: 79286667
11 TBX22 NM_001109878.1(TBX22): c.*57A> T single nucleotide variant Uncertain significance rs1057515991 GRCh38 Chromosome X, 80031168: 80031168
12 TBX22 NM_001109878.1(TBX22): c.*347T> C single nucleotide variant Likely benign rs142483621 GRCh37 Chromosome X, 79286957: 79286957
13 TBX22 NM_001109878.1(TBX22): c.*347T> C single nucleotide variant Likely benign rs142483621 GRCh38 Chromosome X, 80031458: 80031458
14 TBX22 NM_001109878.1(TBX22): c.-2-7C> A single nucleotide variant Likely benign rs185298778 GRCh37 Chromosome X, 79277760: 79277760
15 TBX22 NM_001109878.1(TBX22): c.-2-7C> A single nucleotide variant Likely benign rs185298778 GRCh38 Chromosome X, 80022261: 80022261
16 TBX22 NM_001109878.1(TBX22): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance rs765734398 GRCh37 Chromosome X, 79281197: 79281197
17 TBX22 NM_001109878.1(TBX22): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance rs765734398 GRCh38 Chromosome X, 80025698: 80025698
18 TBX22 NM_001109878.1(TBX22): c.883T> C (p.Leu295=) single nucleotide variant Likely benign rs195293 GRCh37 Chromosome X, 79283509: 79283509
19 TBX22 NM_001109878.1(TBX22): c.883T> C (p.Leu295=) single nucleotide variant Likely benign rs195293 GRCh38 Chromosome X, 80028010: 80028010
20 TBX22 NM_001109878.1(TBX22): c.949+12T> G single nucleotide variant Likely benign rs151121450 GRCh37 Chromosome X, 79283587: 79283587
21 TBX22 NM_001109878.1(TBX22): c.949+12T> G single nucleotide variant Likely benign rs151121450 GRCh38 Chromosome X, 80028088: 80028088
22 TBX22 NM_001109878.1(TBX22): c.-23A> G single nucleotide variant Likely benign rs147593294 GRCh37 Chromosome X, 79270366: 79270366
23 TBX22 NM_001109878.1(TBX22): c.-23A> G single nucleotide variant Likely benign rs147593294 GRCh38 Chromosome X, 80014867: 80014867
24 TBX22 NM_001109878.1(TBX22): c.*533A> T single nucleotide variant Uncertain significance rs770782241 GRCh37 Chromosome X, 79287143: 79287143
25 TBX22 NM_001109878.1(TBX22): c.*533A> T single nucleotide variant Uncertain significance rs770782241 GRCh38 Chromosome X, 80031644: 80031644
26 TBX22 NM_001109878.1(TBX22): c.-103G> A single nucleotide variant Likely benign rs73496511 GRCh37 Chromosome X, 79270286: 79270286
27 TBX22 NM_001109878.1(TBX22): c.-103G> A single nucleotide variant Likely benign rs73496511 GRCh38 Chromosome X, 80014787: 80014787
28 TBX22 NM_001109878.1(TBX22): c.-28G> A single nucleotide variant Uncertain significance rs746947861 GRCh37 Chromosome X, 79270361: 79270361
29 TBX22 NM_001109878.1(TBX22): c.-28G> A single nucleotide variant Uncertain significance rs746947861 GRCh38 Chromosome X, 80014862: 80014862
30 TBX22 NM_001109878.1(TBX22): c.798+11T> C single nucleotide variant Likely benign rs199643713 GRCh37 Chromosome X, 79282378: 79282378
31 TBX22 NM_001109878.1(TBX22): c.798+11T> C single nucleotide variant Likely benign rs199643713 GRCh38 Chromosome X, 80026879: 80026879
32 TBX22 NM_001109878.1(TBX22): c.1412C> T (p.Ser471Phe) single nucleotide variant Uncertain significance rs1057515990 GRCh37 Chromosome X, 79286459: 79286459
33 TBX22 NM_001109878.1(TBX22): c.1412C> T (p.Ser471Phe) single nucleotide variant Uncertain significance rs1057515990 GRCh38 Chromosome X, 80030960: 80030960
34 TBX22 NM_001109878.1(TBX22): c.*97C> A single nucleotide variant Uncertain significance rs757571902 GRCh37 Chromosome X, 79286707: 79286707
35 TBX22 NM_001109878.1(TBX22): c.*97C> A single nucleotide variant Uncertain significance rs757571902 GRCh38 Chromosome X, 80031208: 80031208

Expression for Cleft Palate X-Linked

Search GEO for disease gene expression data for Cleft Palate X-Linked.

Pathways for Cleft Palate X-Linked

GO Terms for Cleft Palate X-Linked

Sources for Cleft Palate X-Linked

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
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37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
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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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