CMC
MCID: CPL013
MIFTS: 37

Capillary Malformations, Congenital (CMC)

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

Aliases & Classifications for Capillary Malformations, Congenital

MalaCards integrated aliases for Capillary Malformations, Congenital:

Name: Capillary Malformations, Congenital 57 75
Nevi Flammei, Familial Multiple 57 53 73
Familial Multiple Nevi Flammei 59 75
Capillary Malformations 57 75
Capillary Malformation 29 6
Port-Wine Stain 57 75
Cmal 57 75
Cmc 57 75
Capillary Malformations, Congenital, 1, Somatic, Mosaic 57
Capillary Malformations, Hereditary 13
Familial Multiple Port-Wine Stains 59
Hereditary Capillary Malformations 75
Port-Wine Stain Familial Multiple 53
Capillary Malformations; Cmal 57
Strawberry Nevus of Skin 73

Characteristics:

Orphanet epidemiological data:

59
familial multiple nevi flammei
Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
capillary malformations, congenital:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Capillary Malformations, Congenital

OMIM : 57 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, also known as nevi flammei, familial multiple, is related to microcephaly-capillary malformation syndrome and capillary malformation-arteriovenous malformation. An important gene associated with Capillary Malformations, Congenital is GNAQ (G Protein Subunit Alpha Q). The drugs Adrenergic Agonists and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include endothelial, skin and brain, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 microcephaly-capillary malformation syndrome 12.7
2 capillary malformation-arteriovenous malformation 12.7
3 autism with port-wine stain 12.6
4 autism-facial port-wine stain syndrome 12.6
5 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.3
6 sturge-weber syndrome 12.2
7 retinal capillary malformation 12.1
8 klippel-trenaunay-weber syndrome 12.1
9 phacomatosis pigmentovascularis 12.0
10 chronic mucocutaneous candidiasis 11.9
11 parkes weber syndrome 11.7
12 cobb syndrome 11.7
13 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
14 cerebral cavernous malformations 11.5
15 chudley-mccullough syndrome 11.2
16 cerebral cavernous malformations 2 11.2
17 cerebral cavernous malformations 3 11.2
18 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.1
19 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.1
20 candidiasis, familial, 1 11.1
21 immunodeficiency 31c 11.1
22 ogden syndrome 11.0
23 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.0
24 stork bite 11.0
25 pik3ca-related overgrowth spectrum 11.0
26 pyogenic granuloma 10.7
27 weber syndrome 10.6
28 localized scleroderma 10.4
29 basal cell carcinoma 1 10.4
30 basal cell carcinoma 10.4
31 cutis marmorata telangiectatica congenita 10.3
32 hemangioma 10.3
33 ventricular septal defect 10.3
34 retinal vascular disease 10.3
35 dermatitis 10.3
36 megalencephaly 10.2
37 angioma, tufted 10.2
38 arteriovenous malformation 10.2
39 skin epithelioid hemangioma 10.2
40 histiocytoid hemangioma 10.2
41 angiomatous lymphoid hamartoma 10.2
42 phace syndrome 10.2
43 microcephaly 10.1
44 polycythemia vera 10.1
45 lentigines 10.1
46 macrodactyly 10.1
47 noonan syndrome 1 10.1
48 scleroderma, familial progressive 10.1
49 angioma serpiginosum, x-linked 10.1
50 acoustic neuroma 10.1

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



Diseases related to Capillary Malformations, Congenital

Symptoms & Phenotypes for Capillary Malformations, Congenital

Symptoms via clinical synopsis from OMIM:

57
Skin:
multiple nevi flammei
port-wine stain


Clinical features from OMIM:

163000

Human phenotypes related to Capillary Malformations, Congenital:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
6 pulmonary embolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002204
7 edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000969
8 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
9 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004936
10 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
11 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
12 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
13 nevus flammeus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001052
14 venous insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005293
15 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
16 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
17 abnormality of the upper limb 59 32 occasional (7.5%) Occasional (29-5%) HP:0002817
18 lower limb asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0100559
19 hemiplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002301
20 hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001269
21 irregular hyperpigmentation 59 Very frequent (99-80%)
22 abnormality of the lower limb 59 Occasional (29-5%)
23 abnormality of the cranial nerves 59 Occasional (29-5%)
24 abnormal cranial nerve morphology 32 occasional (7.5%) HP:0001291

Drugs & Therapeutics for Capillary Malformations, Congenital

Drugs for Capillary Malformations, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic Agonists Phase 3
2 Antihypertensive Agents Phase 3
3 Adrenergic alpha-Agonists Phase 3
4 Adrenergic alpha-2 Receptor Agonists Phase 3
5 Neurotransmitter Agents Phase 3
6 Brimonidine Tartrate Phase 3 70359-46-5
7 Adrenergic Agents Phase 3
8
Bleomycin Approved, Investigational Phase 2 11056-06-7 5360373
9 Anti-Bacterial Agents Phase 2
10 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Onreltea (Brimonidine) Gel In Pediatric Patients With Capillary Malformations Recruiting NCT02764411 Phase 3 Brimonidine 0.33% gel
2 Electrosclerotherapy for Capillary Malformations Recruiting NCT02883023 Phase 2 Intralesional bleomycin injection
3 Assessing the Effects of Air-cooling on Capillary Malformations Unknown status NCT01735734
4 Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations Unknown status NCT01774916 Not Applicable
5 Effect of Laser Treatment on Capillary Malformations Withdrawn NCT02035319
6 Optical Frequency Domain Imaging (OFDI) in Dermatology Withdrawn NCT01438047

Search NIH Clinical Center for Capillary Malformations, Congenital

Genetic Tests for Capillary Malformations, Congenital

Genetic tests related to Capillary Malformations, Congenital:

# Genetic test Affiliating Genes
1 Capillary Malformation 29 GNAQ

Anatomical Context for Capillary Malformations, Congenital

MalaCards organs/tissues related to Capillary Malformations, Congenital:

41
Endothelial, Skin, Brain

Publications for Capillary Malformations, Congenital

Articles related to Capillary Malformations, Congenital:

# Title Authors Year
1
Familial multiple nevi flammei. ( 8912575 )
1996
2
Familial multiple nevi flammei. ( 18115020 )
1949

Variations for Capillary Malformations, Congenital

ClinVar genetic disease variations for Capillary Malformations, Congenital:

6
# 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
2 GNAQ NM_002072.4(GNAQ): c.548G> A (p.Arg183Gln) single nucleotide variant Pathogenic rs397514698 GRCh38 Chromosome 9, 77797577: 77797577

Expression for Capillary Malformations, Congenital

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

Pathways for Capillary Malformations, Congenital

GO Terms for Capillary Malformations, Congenital

Sources for Capillary Malformations, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....