CLAPO
MCID: CPL012
MIFTS: 28

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 56 73 6
Clapo Syndrome 58 73 36 71
Lopez-Gutierrez Syndrome 56 73
Clapo 56 73
Clapo Syndrome, Somatic 56

Characteristics:

Orphanet epidemiological data:

58
clapo syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
somatic mutation


HPO:

31
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:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


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

KEGG : 36 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 overgrowth syndrome and lymphangioma. 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 : 73 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 overgrowth syndrome 10.5
2 lymphangioma 10.3
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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 capillary hemangioma 58 31 obligate (100%) Obligate (100%) HP:0005306
2 capillary malformation of the lip 58 31 obligate (100%) Obligate (100%) HP:0031487
3 nevus flammeus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001052
4 overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001548
5 lymphangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100764
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 lymphedema 58 31 frequent (33%) Frequent (79-30%) HP:0001004
8 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
9 varicose veins 58 31 frequent (33%) Frequent (79-30%) HP:0002619
10 macrodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004099
11 venous malformation 58 31 frequent (33%) Frequent (79-30%) HP:0012721
12 hemihypertrophy of lower limb 58 31 frequent (33%) Frequent (79-30%) HP:0100553
13 hemihypertrophy of upper limb 58 31 frequent (33%) Frequent (79-30%) HP:0100554
14 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
15 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
16 hemihypertrophy 58 31 very rare (1%) Very frequent (99-80%) HP:0001528
17 ganglioneuroma 58 31 very rare (1%) Very rare (<4-1%) HP:0003005
18 intellectual disability 58 Excluded (0%)
19 tall stature 58 Occasional (29-5%)
20 asymmetric growth 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 61 56 6
29446767 2018
2
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 6
23100325 2013
3
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 6
22658544 2012
4
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 6
22729222 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. 56
18798326 2008
6
Mutation of the PIK3CA gene in ovarian and breast cancer. 6
15520168 2004
7
CLAPO syndrome: Effective response to treatment with oral rapamycin. 61
31172613 2019
8
Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome. 61
29766551 2018
9
CLAPO Syndrome. 61
28521853 2018
10
CLAPO syndrome: case report. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3CA NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)SNV Pathogenic 31945 rs121913272 3:178927980-178927980 3:179210192-179210192
2 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296
3 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)SNV Pathogenic 13653 rs121913279 3:178952085-178952085 3:179234297-179234297
4 PIK3CA PIK3CA, ARG115PROSNV Pathogenic 585022
5 PIK3CA NM_006218.4(PIK3CA):c.248T>C (p.Phe83Ser)SNV Pathogenic 585023 rs1560137208 3:178916861-178916861 3:179199073-179199073
6 PIK3CA NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)SNV Pathogenic/Likely pathogenic 31944 rs121913273 3:178936082-178936082 3:179218294-179218294
7 PIK3CA NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)SNV Uncertain significance 403909 rs113613074 3:178922361-178922361 3:179204573-179204573
8 PIK3CA NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)SNV Uncertain significance 526641 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:

36
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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