MCID: CLF053
MIFTS: 22

Cleft Palate with or Without Ankyloglossia, X-Linked

Categories: Genetic diseases, Oral diseases, Fetal 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 75
Cleft Palate with Ankyloglossia 57 37 13 6
X-Linked Cleft Palate and Ankyloglossia 12 59
Cpx 57 75
X-Linked Cleft Palate with or Without Ankyloglossia 12
Cleft Palate, with/without Ankyloglossia, X-Linked 40
X-Linked Cleft Palate with Ankyloglossia 75

Characteristics:

Orphanet epidemiological data:

59
x-linked cleft palate and ankyloglossia
Inheritance: X-linked dominant,X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked


HPO:

32
cleft palate with or without ankyloglossia, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 303400
Disease Ontology 12 DOID:0060613
Orphanet 59 ORPHA324601
MeSH 44 D002972
KEGG 37 H00909
ICD10 33 Q37 Q37.8 Q37.9

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

UniProtKB/Swiss-Prot : 75 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 x-linked and coproporphyria, hereditary. An important gene associated with Cleft Palate with or Without Ankyloglossia, X-Linked is TBX22 (T-Box 22). 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:

# Related Disease Score Top Affiliating Genes
1 cleft palate x-linked 11.3
2 coproporphyria, hereditary 11.1
3 cleft palate, isolated 10.2
4 ankyloglossia 10.1
5 cystic fibrosis 10.1
6 abruzzo-erickson syndrome 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Mouth:
incomplete cleft palate
palatopharyngeal incompetence
ankyloglossia

Misc:
bifid uvula in heterozygous females


Clinical features from OMIM:

303400

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

32
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 bifid uvula 32 HP:0000193
3 ankyloglossia 32 HP:0010296

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:

41
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:

75
# 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, IVS6, G-C, +1 single nucleotide variant Pathogenic
2 TBX22 NM_001109878.1(TBX22): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic rs104894943 GRCh37 Chromosome X, 79282348: 79282348
3 TBX22 NM_001109878.1(TBX22): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic rs104894943 GRCh38 Chromosome X, 80026849: 80026849
4 TBX22 NM_001109878.1(TBX22): c.352G> T (p.Gly118Cys) single nucleotide variant Pathogenic rs104894944 GRCh37 Chromosome X, 79278735: 79278735
5 TBX22 NM_001109878.1(TBX22): c.352G> T (p.Gly118Cys) single nucleotide variant Pathogenic rs104894944 GRCh38 Chromosome X, 80023236: 80023236
6 TBX22 TBX22, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
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 GRCh38 Chromosome X, 80022261: 80022261
29 TBX22 NM_001109878.1(TBX22): c.-2-7C> A single nucleotide variant Likely benign rs185298778 GRCh37 Chromosome X, 79277760: 79277760
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

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

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