CLAPO
MCID: CPL012
MIFTS: 27

Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth (CLAPO)

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

MalaCards integrated aliases for Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth:

Name: Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 57 74 6
Clapo Syndrome 59 74 37 72
Lopez-Gutierrez Syndrome 57 74
Clapo 57 74
Clapo Syndrome, Somatic 57

Characteristics:

Orphanet epidemiological data:

59
clapo syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth:
Inheritance somatic mutation


Classifications:



External Ids:

OMIM 57 613089
KEGG 37 H02297
MeSH 44 D000015
ICD10 via Orphanet 34 Q87.3
Orphanet 59 ORPHA168984
MedGen 42 C2751313
UMLS 72 C2751313

Summaries for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

KEGG : 37
CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. CLAPO is caused by activating mutations in PIK3CA.

MalaCards based summary : Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth, also known as clapo syndrome, is related to lymphatic malformations and overgrowth syndrome. An important gene associated with Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are mTOR signaling pathway and PI3K-Akt signaling pathway. Affiliated tissues include tongue and breast, and related phenotypes are capillary hemangioma and capillary malformation of the lip

UniProtKB/Swiss-Prot : 74 CLAPO syndrome: A syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs and partial or generalised overgrowth.

More information from OMIM: 613089

Related Diseases for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

Diseases related to Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphatic malformations 10.5
2 overgrowth syndrome 10.5
3 macrodactyly 10.2
4 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.2
5 breast adenocarcinoma 10.2

Graphical network of the top 20 diseases related to Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth:



Diseases related to Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth

Symptoms & Phenotypes for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

Human phenotypes related to Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 capillary hemangioma 59 32 obligate (100%) Obligate (100%) HP:0005306
2 capillary malformation of the lip 59 32 obligate (100%) Obligate (100%) HP:0031487
3 nevus flammeus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001052
4 overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001548
5 lymphangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100764
6 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
7 lymphedema 59 32 frequent (33%) Frequent (79-30%) HP:0001004
8 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
9 varicose veins 59 32 frequent (33%) Frequent (79-30%) HP:0002619
10 macrodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0004099
11 venous malformation 59 32 frequent (33%) Frequent (79-30%) HP:0012721
12 hemihypertrophy of lower limb 59 32 frequent (33%) Frequent (79-30%) HP:0100553
13 hemihypertrophy of upper limb 59 32 frequent (33%) Frequent (79-30%) HP:0100554
14 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
15 narrow chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000774
16 hemihypertrophy 59 32 very rare (1%) Very frequent (99-80%) HP:0001528
17 ganglioneuroma 59 32 very rare (1%) Very rare (<4-1%) HP:0003005
18 intellectual disability 59 Excluded (0%)
19 tall stature 59 Occasional (29-5%)
20 asymmetric growth 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
lymphedema
lymphatic malformations (lip, oral mucosa, neck and tongue)

Skeletal Hands:
macrodactyly

Head And Neck Mouth:
capillary malformation of the lower lip (found in all patients)
lymphatic malformation of the tongue

Cardiovascular Vascular:
varicose veins
venous malformations

Growth Other:
asymmetric overgrowth (in some patients)

Clinical features from OMIM:

613089

Drugs & Therapeutics for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

Search Clinical Trials , NIH Clinical Center for Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth

Genetic Tests for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

Anatomical Context for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

MalaCards organs/tissues related to Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth:

41
Tongue, Breast

Publications for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

Articles related to Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth:

# Title Authors PMID Year
1
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. 38 8 71
29446767 2018
2
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 71
23100325 2013
3
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 71
22729222 2012
4
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 71
22658544 2012
5
Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association. 8
18798326 2008
6
Mutation of the PIK3CA gene in ovarian and breast cancer. 71
15520168 2004
7
CLAPO syndrome: Effective response to treatment with oral rapamycin. 38
31172613 2019
8
Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome. 38
29766551 2018
9
CLAPO Syndrome. 38
28521853 2018
10
CLAPO syndrome: case report. 38
26946481 2016

Variations for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

ClinVar genetic disease variations for Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PIK3CA NM_006218.4(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 3:178952085-178952085 3:179234297-179234297
2 PIK3CA NM_006218.4(PIK3CA): c.1258T> C (p.Cys420Arg) single nucleotide variant Pathogenic rs121913272 3:178927980-178927980 3:179210192-179210192
3 PIK3CA NM_006218.4(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 3:178952084-178952084 3:179234296-179234296
4 PIK3CA PIK3CA, ARG115PRO single nucleotide variant Pathogenic
5 PIK3CA NM_006218.4(PIK3CA): c.248T> C (p.Phe83Ser) single nucleotide variant Pathogenic 3:178916861-178916861 3:179199073-179199073
6 PIK3CA NM_006218.4(PIK3CA): c.1624G> A (p.Glu542Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913273 3:178936082-178936082 3:179218294-179218294
7 PIK3CA NM_006218.4(PIK3CA): c.1130C> G (p.Pro377Arg) single nucleotide variant Uncertain significance rs113613074 3:178922361-178922361 3:179204573-179204573
8 PIK3CA NM_006218.4(PIK3CA): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs755969956 3:178917561-178917561 3:179199773-179199773

Expression for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

Search GEO for disease gene expression data for Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth.

Pathways for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

Pathways related to Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth according to KEGG:

37
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150
2 PI3K-Akt signaling pathway hsa04151

GO Terms for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

Sources for Capillary Malformation of the Lower Lip, Lymphatic Malformation...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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