MCID: CLF021
MIFTS: 14

Cleft Palate X-Linked

Categories: Rare diseases

Aliases & Classifications for Cleft Palate X-Linked

MalaCards integrated aliases for Cleft Palate X-Linked:

Name: Cleft Palate X-Linked 54 30 6
Cleft Palate, X-Linked 74
X-Linked Cleft Palate 54
Cpx 54

Classifications:



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UMLS 74 C1844830

Summaries for Cleft Palate X-Linked

MalaCards based summary : Cleft Palate X-Linked, also known as cleft palate, x-linked, is related to cleft palate with or without ankyloglossia, x-linked and coproporphyria, hereditary. 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 cleft palate with or without ankyloglossia, x-linked 11.7
2 coproporphyria, hereditary 11.3
3 ankyloglossia 10.4
4 cholera 10.3
5 cystic fibrosis 10.3
6 cleft palate, isolated 10.1
7 systolic heart failure 10.0
8 rere-related disorders 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 30 TBX22

Anatomical Context for Cleft Palate X-Linked

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

42
Heart

Publications for Cleft Palate X-Linked

Articles related to Cleft Palate X-Linked:

(show all 16)
# 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
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. ( 17868388 )
2007
3
Cloning and expression analysis of the chick ortholog of TBX22, the gene mutated in X-linked cleft palate and ankyloglossia. ( 12204278 )
2002
4
Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. ( 12412015 )
2002
5
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
6
Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. ( 11499681 )
2001
7
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. ( 11559848 )
2001
8
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
9
Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred. ( 7868130 )
1995
10
Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds. ( 8045560 )
1994
11
The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. ( 8244369 )
1993
12
Transgenic mouse model of X-linked cleft palate. ( 8494785 )
1993
13
The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. ( 1570839 )
1992
14
X-linked cleft palate and ankyloglossia in an Icelandic family. ( 2563678 )
1989
15
X-linked cleft palate: the gene is localized between polymorphic DNA markers DXYS12 and DXS17. ( 2896158 )
1988
16
X-linked cleft palate. ( 3425624 )
1987

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.798+11T> C single nucleotide variant Likely benign rs199643713 GRCh37 Chromosome X, 79282378: 79282378
27 TBX22 NM_001109878.1(TBX22): c.-103G> A single nucleotide variant Likely benign rs73496511 GRCh37 Chromosome X, 79270286: 79270286
28 TBX22 NM_001109878.1(TBX22): c.-103G> A single nucleotide variant Likely benign rs73496511 GRCh38 Chromosome X, 80014787: 80014787
29 TBX22 NM_001109878.1(TBX22): c.-28G> A single nucleotide variant Uncertain significance rs746947861 GRCh37 Chromosome X, 79270361: 79270361
30 TBX22 NM_001109878.1(TBX22): c.-28G> A single nucleotide variant Uncertain significance rs746947861 GRCh38 Chromosome X, 80014862: 80014862
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 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
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