MCID: CPL011
MIFTS: 30

Capillary Malformations, Congenital, 1, Somatic, Mosaic

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Capillary Malformations, Congenital, 1, Somatic, Mosaic

MalaCards integrated aliases for Capillary Malformations, Congenital, 1, Somatic, Mosaic:

Name: Capillary Malformations, Congenital, 1, Somatic, Mosaic 54
Capillary Malformations, Congenital 71 29
Nevi Flammei, Familial Multiple 50 69
Familial Multiple Nevi Flammei 56 71
Capillary Malformations, Hereditary 13
Familial Multiple Port-Wine Stains 56
Hereditary Capillary Malformations 71
Port-Wine Stain Familial Multiple 50
Strawberry Nevus of Skin 69
Capillary Malformations 71
Port-Wine Stain 71
Cmal 71
Cmc 71

Characteristics:

Orphanet epidemiological data:

56
familial multiple nevi flammei
Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
capillary malformations, congenital, 1, somatic, mosaic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Capillary Malformations, Congenital, 1, Somatic, Mosaic

OMIM : 54
Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (602089), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006). (163000)

MalaCards based summary : Capillary Malformations, Congenital, 1, Somatic, Mosaic, also known as capillary malformations, congenital, is related to microcephaly-capillary malformation syndrome and capillary malformation-arteriovenous malformation, and has symptoms including scoliosis, seizures and glaucoma. An important gene associated with Capillary Malformations, Congenital, 1, Somatic, Mosaic is GNAQ (G Protein Subunit Alpha Q). Affiliated tissues include endothelial and skin.

UniProtKB/Swiss-Prot : 71 Capillary malformations, congenital: A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity.

Related Diseases for Capillary Malformations, Congenital, 1, Somatic, Mosaic

Diseases related to Capillary Malformations, Congenital, 1, Somatic, Mosaic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
id Related Disease Score Top Affiliating Genes
1 microcephaly-capillary malformation syndrome 12.4
2 capillary malformation-arteriovenous malformation 12.4
3 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 12.4
4 autism with port-wine stain 12.3
5 autism-facial port-wine stain syndrome 12.3
6 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.9
7 retinal capillary malformation 11.9
8 chronic mucocutaneous candidiasis 11.7
9 parkes weber syndrome 11.3
10 cerebral cavernous malformations-1 11.1
11 megalencephaly 11.1
12 cerebral cavernous malformations-2 10.9
13 cerebral cavernous malformations 3 10.9
14 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 10.9
15 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 10.9
16 immunodeficiency 31c, autosomal dominant 10.8
17 chudley-mccullough syndrome 10.8
18 phacomatosis pigmentovascularis 10.7
19 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 10.7
20 noonan syndrome 1 10.7
21 ogden syndrome 10.7
22 hemihyperplasia-multiple lipomatosis syndrome 10.7
23 arteriovenous malformation 10.2
24 nevi flammei 10.0
25 microcephaly 9.9
26 polymicrogyria 9.8
27 cerebritis 9.8
28 neonatal lupus erythematosus 9.8
29 lupus erythematosus 9.8
30 osteoporosis 9.7
31 hemiplegia 9.7
32 candidiasis 9.7
33 b-cell lymphomas 9.7
34 arthropathy 9.7
35 lymphoma 9.7
36 tetralogy of fallot 9.7
37 polydactyly 9.7
38 cutis marmorata telangiectatica congenita 9.7
39 hydrocephalus 9.7
40 hydrops fetalis 9.5
41 lymphatic malformations 9.5
42 iritis 9.5
43 weber syndrome 9.5
44 endotheliitis 9.5
45 sagittal sinus thrombosis 9.5
46 angiolipoma 9.5
47 arteriovenous fistula 9.5
48 cutaneous mastocytosis 9.5
49 immune hydrops fetalis 9.5
50 cerebral hemorrhage 9.5

Graphical network of the top 20 diseases related to Capillary Malformations, Congenital, 1, Somatic, Mosaic:



Diseases related to Capillary Malformations, Congenital, 1, Somatic, Mosaic

Symptoms & Phenotypes for Capillary Malformations, Congenital, 1, Somatic, Mosaic

Symptoms via clinical synopsis from OMIM:

54

Skin:
multiple nevi flammei
port-wine stain


Clinical features from OMIM:

163000

Human phenotypes related to Capillary Malformations, Congenital, 1, Somatic, Mosaic:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
4 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
6 hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001269
7 hemiplegia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002301
8 venous thrombosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004936
9 edema 56 32 occasional (7.5%) Occasional (29-5%) HP:0000969
10 pulmonary embolism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002204
11 nevus flammeus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001052
12 arteriovenous malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0100026
13 cerebral calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0002514
14 intracranial hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002170
15 lower limb asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0100559
16 skin ulcer 56 32 occasional (7.5%) Occasional (29-5%) HP:0200042
17 venous insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0005293
18 hypermelanotic macule 56 32 hallmark (90%) Very frequent (99-80%) HP:0001034
19 papule 56 32 frequent (33%) Frequent (79-30%) HP:0200034
20 abnormality of the upper limb 56 32 occasional (7.5%) Occasional (29-5%) HP:0002817
21 abnormality of the cranial nerves 56 32 occasional (7.5%) Occasional (29-5%) HP:0001291
22 irregular hyperpigmentation 56 Very frequent (99-80%)
23 abnormality of the lower limb 56 Occasional (29-5%)

Drugs & Therapeutics for Capillary Malformations, Congenital, 1, Somatic, Mosaic

Search Clinical Trials , NIH Clinical Center for Capillary Malformations, Congenital, 1, Somatic, Mosaic

Genetic Tests for Capillary Malformations, Congenital, 1, Somatic, Mosaic

Genetic tests related to Capillary Malformations, Congenital, 1, Somatic, Mosaic:

id Genetic test Affiliating Genes
1 Capillary Malformations, Congenital 29

Anatomical Context for Capillary Malformations, Congenital, 1, Somatic, Mosaic

MalaCards organs/tissues related to Capillary Malformations, Congenital, 1, Somatic, Mosaic:

39
Endothelial, Skin

Publications for Capillary Malformations, Congenital, 1, Somatic, Mosaic

Variations for Capillary Malformations, Congenital, 1, Somatic, Mosaic

ClinVar genetic disease variations for Capillary Malformations, Congenital, 1, Somatic, Mosaic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAQ NM_002072.4(GNAQ): c.548G> A (p.Arg183Gln) single nucleotide variant Pathogenic rs397514698 GRCh37 Chromosome 9, 80412493: 80412493

Expression for Capillary Malformations, Congenital, 1, Somatic, Mosaic

Search GEO for disease gene expression data for Capillary Malformations, Congenital, 1, Somatic, Mosaic.

Pathways for Capillary Malformations, Congenital, 1, Somatic, Mosaic

GO Terms for Capillary Malformations, Congenital, 1, Somatic, Mosaic

Sources for Capillary Malformations, Congenital, 1, Somatic, Mosaic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....