CLAPO
MCID: CPL012
MIFTS: 23

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 58 76
Clapo Syndrome 60 76 38 74
Lopez-Gutierrez Syndrome 58 76
Clapo 58 76
Clapo Syndrome, Somatic 58

Characteristics:

Orphanet epidemiological data:

60
clapo syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
somatic mutation


Classifications:



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

UniProtKB/Swiss-Prot : 76 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.

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. 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 related phenotypes are capillary malformation of the lip and capillary hemangioma

Description 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 10.1

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:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 capillary malformation of the lip 60 33 obligate (100%) Obligate (100%) HP:0031487
2 capillary hemangioma 33 obligate (100%) HP:0005306
3 nevus flammeus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001052
4 overgrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001548
5 lymphangioma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100764
6 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
7 lymphedema 60 33 frequent (33%) Frequent (79-30%) HP:0001004
8 varicose veins 60 33 frequent (33%) Frequent (79-30%) HP:0002619
9 facial asymmetry 60 33 frequent (33%) Frequent (79-30%) HP:0000324
10 macrodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0004099
11 venous malformation 60 33 frequent (33%) Frequent (79-30%) HP:0012721
12 hemihypertrophy of lower limb 60 33 frequent (33%) Frequent (79-30%) HP:0100553
13 hemihypertrophy of upper limb 60 33 frequent (33%) Frequent (79-30%) HP:0100554
14 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
15 narrow chest 60 33 occasional (7.5%) Occasional (29-5%) HP:0000774
16 ganglioneuroma 60 33 very rare (1%) Very rare (<4-1%) HP:0003005
17 intellectual disability 60 Excluded (0%)
18 capillary hemangiomas 60 Obligate (100%)
19 tall stature 60 Occasional (29-5%)
20 hemihypertrophy 60 Very frequent (99-80%)
21 asymmetric growth 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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:

42
Tongue

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 Year
1
CLAPO Syndrome. ( 28521853 )
2018
2
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. ( 29446767 )
2018
3
Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome. ( 29766551 )
2018
4
CLAPO syndrome: case report. ( 26946481 )
2016

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

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:

38
# 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
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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