CPX
MCID: CLF053
MIFTS: 38

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

Categories: Fetal diseases, Genetic 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 57 72 29 6
Cleft Palate with Ankyloglossia 57 36 13 6
X-Linked Cleft Palate and Ankyloglossia 12 20 58
Cpx 57 20 72
X-Linked Cleft Palate with or Without Ankyloglossia 12 15
Cleft Palate, with/without Ankyloglossia, X-Linked 39
X-Linked Cleft Palate with Ankyloglossia 72
X-Linked Cleft Palate 20

Characteristics:

Orphanet epidemiological data:

58
x-linked cleft palate and ankyloglossia
Inheritance: X-linked dominant,X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
cleft palate with or without ankyloglossia, x-linked:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060613
OMIM® 57 303400
KEGG 36 H00909
MeSH 44 D002972
ICD10 via Orphanet 33 Q38.6
Orphanet 58 ORPHA324601
SNOMED-CT via HPO 68 18910001 263934009 67787004

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

UniProtKB/Swiss-Prot : 72 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 ankyloglossia with or without tooth anomalies. An important gene associated with Cleft Palate with or Without Ankyloglossia, X-Linked is TBX22 (T-Box Transcription Factor 22). Affiliated tissues include tongue and bone, and related phenotypes are bifid uvula and ankyloglossia

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

KEGG : 36 Cleft palate with ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female carriers. It is resulted from failure of the palate to close and affected individuals will have problems with feeding, speech, hearing, and dentition.

More information 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 top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 29.4 TBX22 OSR2 MSX1 MEOX2 MEMO1
2 ankyloglossia with or without tooth anomalies 29.1 ZNF157 TBX22 MSX1 LONRF3 KLHL4 ITM2A
3 coproporphyria, hereditary 11.1
4 leukemia, acute myeloid 10.6
5 myeloid leukemia 10.5
6 leukemia 10.4
7 cystic fibrosis 10.2
8 neutropenia 10.2
9 coloboma of macula 10.1
10 abruzzo-erickson syndrome 10.1
11 branchiootic syndrome 1 10.1
12 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 TBX22 MSX1
13 popliteal pterygium syndrome 10.1 TBX22 MSX1
14 cleft lip with or without cleft palate 10.1
15 fibrosis of extraocular muscles, congenital, 1 10.1
16 leukemia, acute lymphoblastic 10.1
17 branchiooculofacial syndrome 10.1 TBX22 MSX1
18 van der woude syndrome 1 10.0 TBX22 MSX1
19 exanthem 10.0
20 acute leukemia 10.0
21 cholera 10.0
22 cleft lip/palate 9.9 TBX22 MSX1
23 physical disorder 9.9 TBX22 MSX1 MAMLD1
24 cleft soft palate 9.9 TBX22 OSR2
25 colorectal cancer 9.8
26 leukemia, chronic lymphocytic 9.8
27 charge syndrome 9.8
28 coloboma, ocular, autosomal recessive 9.8
29 pierre robin syndrome 9.8
30 choanal atresia, posterior 9.8
31 acute promyelocytic leukemia 9.8
32 myelodysplastic syndrome 9.8
33 helix syndrome 9.8
34 autosomal recessive cerebellar ataxia 9.8
35 mucositis 9.8
36 rapidly involuting congenital hemangioma 9.8
37 endocarditis 9.8
38 allergic disease 9.8
39 acute cystitis 9.8
40 diarrhea 9.8
41 cystitis 9.8
42 complex regional pain syndrome 9.8
43 hypokalemia 9.8
44 sleep disorder 9.8
45 congestive heart failure 9.8
46 hyperthyroidism 9.8
47 cleft lip 9.8
48 systolic heart failure 9.8
49 alopecia 9.8
50 47,xyy 9.8

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:

31
# Description HPO Frequency HPO Source Accession
1 bifid uvula 31 HP:0000193
2 ankyloglossia 31 HP:0010296

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Mouth:
ankyloglossia
palatopharyngeal incompetence
incomplete cleft palate

Misc:
bifid uvula in heterozygous females

Clinical features from OMIM®:

303400 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.17 ITM2A KLHL4 MEOX2 MSX1 OSR2 PJA1

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

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

# Genetic test Affiliating Genes
1 Cleft Palate with or Without Ankyloglossia, X-Linked 29 TBX22

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

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

40
Tongue, Bone

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

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

(show all 31)
# Title Authors PMID Year
1
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. 6 57 61
22784330 2013
2
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. 6 61 57
12374769 2002
3
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. 61 57 6
11559848 2001
4
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. 6 57
17868388 2007
5
TBX22 mutations are a frequent cause of cleft palate. 57 6
14729838 2004
6
Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. 57
19648291 2009
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. 57
8808277 1996
8
Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred. 57
7868130 1995
9
Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds. 57
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. 57
8244369 1993
11
The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. 57
1570839 1992
12
Localization of a mutant gene for cleft palate and ankyloglossia in an X-linked Icelandic family. 57
1687471 1991
13
An X-linked recessive mutation producing cleft palate, crooked tail, and polydactyly in mice. 57
2230077 1990
14
X-linked cleft palate and ankyloglossia in an Icelandic family. 6
2563678 1989
15
X-linked cleft palate: the gene is localized between polymorphic DNA markers DXYS12 and DXS17. 57
2896158 1988
16
The application of molecular genetics to detection of craniofacial abnormality. 57
3074911 1988
17
X-linked cleft palate. 57
3425624 1987
18
Linkage of an X-chromosome cleft palate gene. 57
2881212 1987
19
A further X-linked isolated nonsyndromic cleft palate family with a nonexpressing obligate affected male. 57
3812573 1987
20
A response: a further X-linked isolated nonsyndromic cleft palate family with a nonexpressing obligate affected male. 57
3812574 1987
21
Mendelian inheritance of isolated nonsyndromic cleft palate. 57
3728565 1986
22
Heritable syndrome of skeletal defects in a family of Australian shepherd dogs. 57
4056374 1985
23
Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother. 57
6885061 1983
24
Sex-linked inheritance of cleft palate. 57
457141 1979
25
Sex-linked cleft palate in a British Columbia Indian family. 57
5423440 1970
26
Incidence of cleft lip and palate in British Columbia Indians. 57
5771226 1969
27
Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation. 61
22851992 2012
28
Alternative splicing, phylogenetic analysis, and craniofacial expression of zebrafish tbx22. 61
19418442 2009
29
Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family. 61
15602089 2005
30
T-box genes in human disorders. 61
12668595 2003
31
Molecular genetic approaches to the study of human craniofacial dysmorphologies. 61
7721539 1995

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

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

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX22 NM_001109878.2(TBX22):c.166G>T (p.Glu56Ter) SNV Pathogenic 11333 rs104894945 GRCh37: X:79277934-79277934
GRCh38: X:80022435-80022435
2 TBX22 NM_001109878.2(TBX22):c.641T>C (p.Leu214Pro) SNV Pathogenic 11334 rs104894946 GRCh37: X:79282210-79282210
GRCh38: X:80026711-80026711
3 TBX22 NM_001109878.2(TBX22):c.779C>T (p.Thr260Met) SNV Pathogenic 11329 rs104894943 GRCh37: X:79282348-79282348
GRCh38: X:80026849-80026849
4 TBX22 NM_001109878.2(TBX22):c.352G>T (p.Gly118Cys) SNV Pathogenic 11330 rs104894944 GRCh37: X:79278735-79278735
GRCh38: X:80023236-80023236
5 TBX22 TBX22, 1-BP DEL, 671C Deletion Pathogenic 11332 GRCh37:
GRCh38:
6 TBX22 NM_001109878.2(TBX22):c.790A>T (p.Asn264Tyr) SNV Pathogenic 11336 rs28935177 GRCh37: X:79282359-79282359
GRCh38: X:80026860-80026860
7 TBX22 NM_001109878.2(TBX22):c.863+1G>C SNV Pathogenic 11328 rs1602411954 GRCh37: X:79282820-79282820
GRCh38: X:80027321-80027321
8 TBX22 NM_001109878.2(TBX22):c.633+1G>A SNV Pathogenic 11331 rs1602410916 GRCh37: X:79281277-79281277
GRCh38: X:80025778-80025778
9 TBX22 NM_001109878.2(TBX22):c.584_586dup (p.Phe196_Asp197insCys) Duplication Pathogenic 11335 rs1602410858 GRCh37: X:79281226-79281227
GRCh38: X:80025727-80025728
10 TBX22 NM_001109878.2(TBX22):c.1252del (p.Val418fs) Deletion Pathogenic 11337 rs1602414282 GRCh37: X:79286295-79286295
GRCh38: X:80030796-80030796
11 TBX22 NM_001109878.2(TBX22):c.*57A>T SNV Uncertain significance 368673 rs1057515991 GRCh37: X:79286667-79286667
GRCh38: X:80031168-80031168
12 TBX22 NM_001109878.2(TBX22):c.1412C>T (p.Ser471Phe) SNV Uncertain significance 368670 rs1057515990 GRCh37: X:79286459-79286459
GRCh38: X:80030960-80030960
13 TBX22 NM_001109878.2(TBX22):c.*533A>T SNV Uncertain significance 368676 rs770782241 GRCh37: X:79287143-79287143
GRCh38: X:80031644-80031644
14 TBX22 NM_001109878.2(TBX22):c.554C>T (p.Ser185Leu) SNV Uncertain significance 368665 rs765734398 GRCh37: X:79281197-79281197
GRCh38: X:80025698-80025698
15 TBX22 NM_001109878.2(TBX22):c.*97C>A SNV Uncertain significance 368674 rs757571902 GRCh37: X:79286707-79286707
GRCh38: X:80031208-80031208
16 TBX22 NM_001109878.2(TBX22):c.1544C>A (p.Ala515Glu) SNV Uncertain significance 368671 rs201336957 GRCh37: X:79286591-79286591
GRCh38: X:80031092-80031092
17 TBX22 NM_001109878.2(TBX22):c.-28G>A SNV Uncertain significance 368661 rs746947861 GRCh37: X:79270361-79270361
GRCh38: X:80014862-80014862
18 TBX22 NM_001109878.2(TBX22):c.1488C>T (p.Asp496=) SNV Uncertain significance 713489 rs35602350 GRCh37: X:79286535-79286535
GRCh38: X:80031036-80031036
19 TBX22 NM_001109878.2(TBX22):c.*293T>C SNV Uncertain significance 913764 GRCh37: X:79286903-79286903
GRCh38: X:80031404-80031404
20 TBX22 NM_001109878.2(TBX22):c.143G>A (p.Arg48Lys) SNV Uncertain significance 914119 GRCh37: X:79277911-79277911
GRCh38: X:80022412-80022412
21 TBX22 NM_001109878.2(TBX22):c.224G>T (p.Gly75Val) SNV Uncertain significance 914120 GRCh37: X:79278607-79278607
GRCh38: X:80023108-80023108
22 TBX22 NM_001109878.2(TBX22):c.302T>A (p.Leu101Gln) SNV Uncertain significance 914122 GRCh37: X:79278685-79278685
GRCh38: X:80023186-80023186
23 TBX22 NM_001109878.2(TBX22):c.549C>G (p.Pro183=) SNV Uncertain significance 914622 GRCh37: X:79281192-79281192
GRCh38: X:80025693-80025693
24 TBX22 NM_001109878.2(TBX22):c.864-11C>T SNV Uncertain significance 914624 GRCh37: X:79283479-79283479
GRCh38: X:80027980-80027980
25 TBX22 NM_001109878.2(TBX22):c.799-13A>G SNV Likely benign 914623 GRCh37: X:79282742-79282742
GRCh38: X:80027243-80027243
26 TBX22 NM_001109878.2(TBX22):c.356+6G>C SNV Likely benign 914123 GRCh37: X:79278745-79278745
GRCh38: X:80023246-80023246
27 TBX22 NM_001109878.2(TBX22):c.240C>T (p.Tyr80=) SNV Likely benign 914121 GRCh37: X:79278623-79278623
GRCh38: X:80023124-80023124
28 TBX22 NM_001109878.2(TBX22):c.1090C>T (p.Leu364=) SNV Likely benign 780710 rs147281246 GRCh37: X:79286137-79286137
GRCh38: X:80030638-80030638
29 TBX22 NM_001109878.2(TBX22):c.1169C>A (p.Ala390Asp) SNV Likely benign 912660 GRCh37: X:79286216-79286216
GRCh38: X:80030717-80030717
30 TBX22 NM_001109878.2(TBX22):c.-2-7C>A SNV Likely benign 368663 rs185298778 GRCh37: X:79277760-79277760
GRCh38: X:80022261-80022261
31 TBX22 NM_001109878.2(TBX22):c.-23A>G SNV Likely benign 368662 rs147593294 GRCh37: X:79270366-79270366
GRCh38: X:80014867-80014867
32 TBX22 NM_001109878.2(TBX22):c.798+11T>C SNV Likely benign 368667 rs199643713 GRCh37: X:79282378-79282378
GRCh38: X:80026879-80026879
33 TBX22 NM_001109878.2(TBX22):c.176-13C>A SNV Benign/Likely benign 445911 rs55760411 GRCh37: X:79278546-79278546
GRCh38: X:80023047-80023047
34 TBX22 , LOC109286564 NM_001109878.2(TBX22):c.-103G>A SNV Benign 368660 rs73496511 GRCh37: X:79270286-79270286
GRCh38: X:80014787-80014787
35 TBX22 NM_001109878.2(TBX22):c.883T>C (p.Leu295=) SNV Benign 368668 rs195293 GRCh37: X:79283509-79283509
GRCh38: X:80028010-80028010
36 TBX22 NM_001109878.2(TBX22):c.949+12T>G SNV Benign 368669 rs151121450 GRCh37: X:79283587-79283587
GRCh38: X:80028088-80028088
37 TBX22 NM_001109878.2(TBX22):c.559G>A (p.Glu187Lys) SNV Benign 368666 rs34244923 GRCh37: X:79281202-79281202
GRCh38: X:80025703-80025703
38 TBX22 NM_001109878.2(TBX22):c.*347T>C SNV Benign 368675 rs142483621 GRCh37: X:79286957-79286957
GRCh38: X:80031458-80031458
39 TBX22 NM_001109878.2(TBX22):c.*6C>A SNV Benign 368672 rs137881052 GRCh37: X:79286616-79286616
GRCh38: X:80031117-80031117
40 TBX22 NM_001109878.2(TBX22):c.72C>T (p.Leu24=) SNV Benign 368664 rs138387312 GRCh37: X:79277840-79277840
GRCh38: X:80022341-80022341
41 TBX22 NM_001109878.2(TBX22):c.-2-7C>G SNV Benign 804041 rs185298778 GRCh37: X:79277760-79277760
GRCh38: X:80022261-80022261
42 TBX22 NM_001109878.2(TBX22):c.804G>A (p.Thr268=) SNV Benign 729592 rs150811689 GRCh37: X:79282760-79282760
GRCh38: X:80027261-80027261

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

72
# 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

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:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.88 ZNF157 TBX22 OSR2 MSX1 MEOX2 MAMLD1
2 embryonic digit morphogenesis GO:0042733 9.43 OSR2 MSX1
3 odontogenesis GO:0042476 9.37 OSR2 MSX1
4 bone morphogenesis GO:0060349 9.32 OSR2 MSX1
5 embryonic forelimb morphogenesis GO:0035115 9.26 OSR2 MSX1
6 embryonic hindlimb morphogenesis GO:0035116 9.16 OSR2 MSX1
7 middle ear morphogenesis GO:0042474 8.96 OSR2 MSX1
8 roof of mouth development GO:0060021 8.8 OSR2 MSX1 MEOX2

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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 ZNF157 TBX22 OSR2 MSX1 MEOX2

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

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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