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 58 76
Nevi Flammei, Familial Multiple 58 54 74
Familial Multiple Nevi Flammei 60 76
Capillary Malformations 58 76
Capillary Malformation 30 6
Port-Wine Stain 58 76
Cmal 58 76
Cmc 58 76
Capillary Malformations, Congenital, 1, Somatic, Mosaic 58
Capillary Malformations, Hereditary 13
Familial Multiple Port-Wine Stains 60
Hereditary Capillary Malformations 76
Port-Wine Stain Familial Multiple 54
Capillary Malformations; Cmal 58
Strawberry Nevus of Skin 74

Characteristics:

Orphanet epidemiological data:

60
familial multiple nevi flammei
Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
capillary malformations, congenital:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Capillary Malformations, Congenital

OMIM : 58 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 megalencephaly-capillary malformation-polymicrogyria syndrome and capillary malformation-arteriovenous malformation 1. An important gene associated with Capillary Malformations, Congenital is GNAQ (G Protein Subunit Alpha Q). The drugs Brimonidine Tartrate and Adrenergic Agonists have been mentioned in the context of this disorder. Affiliated tissues include endothelial and skin, and related phenotypes are arteriovenous malformation and nevus flammeus

UniProtKB/Swiss-Prot : 76 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 127)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 12.8
2 capillary malformation-arteriovenous malformation 1 12.8
3 microcephaly-capillary malformation syndrome 12.7
4 autism with port-wine stain 12.6
5 autism-facial port-wine stain syndrome 12.6
6 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.5
7 capillary malformation-arteriovenous malformation 2 12.5
8 sturge-weber syndrome 12.3
9 retinal capillary malformation 12.2
10 klippel-trenaunay-weber syndrome 12.2
11 phacomatosis pigmentovascularis 12.0
12 chronic mucocutaneous candidiasis 12.0
13 cobb syndrome 11.7
14 parkes weber syndrome 11.6
15 cerebral cavernous malformations 11.5
16 chudley-mccullough syndrome 11.3
17 cerebral cavernous malformations 2 11.2
18 cerebral cavernous malformations 3 11.2
19 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.2
20 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.2
21 candidiasis, familial, 1 11.1
22 immunodeficiency 31c 11.1
23 ogden syndrome 11.0
24 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.0
25 stork bite 11.0
26 pik3ca-related overgrowth spectrum 11.0
27 hemihyperplasia-multiple lipomatosis syndrome 11.0
28 pyogenic granuloma 10.6
29 weber syndrome 10.6
30 basal cell carcinoma 1 10.5
31 basal cell carcinoma 10.5
32 dermatitis 10.5
33 localized scleroderma 10.4
34 cutis marmorata telangiectatica congenita 10.3
35 hemangioma 10.3
36 arteriovenous malformation 10.3
37 ventricular septal defect 10.3
38 retinal vascular disease 10.3
39 megalencephaly 10.2
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
41 angioma, tufted 10.2
42 skin epithelioid hemangioma 10.2
43 histiocytoid hemangioma 10.2
44 phace syndrome 10.2
45 microcephaly 10.2
46 polycythemia vera 10.2
47 osteoarthritis 10.1
48 polymicrogyria 10.1
49 lentigines 10.1
50 macrodactyly 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

Human phenotypes related to Capillary Malformations, Congenital:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arteriovenous malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100026
2 nevus flammeus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001052
3 hypermelanotic macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001034
4 papule 60 33 frequent (33%) Frequent (79-30%) HP:0200034
5 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
6 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
7 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
8 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
9 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
10 pulmonary embolism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002204
11 edema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000969
12 venous thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004936
13 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
14 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
15 intracranial hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002170
16 venous insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0005293
17 abnormality of the upper limb 60 33 occasional (7.5%) Occasional (29-5%) HP:0002817
18 lower limb asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0100559
19 hemiplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002301
20 hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001269
21 abnormal cranial nerve morphology 33 occasional (7.5%) HP:0001291
22 irregular hyperpigmentation 60 Very frequent (99-80%)
23 abnormality of the lower limb 60 Occasional (29-5%)
24 abnormality of the cranial nerves 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Skin:
multiple nevi flammei
port-wine stain

Clinical features from OMIM:

163000

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 Brimonidine Tartrate Phase 3 70359-46-5
2 Adrenergic Agonists Phase 3
3 Adrenergic alpha-2 Receptor Agonists Phase 3
4 Neurotransmitter Agents Phase 3
5 Adrenergic alpha-Agonists Phase 3
6 Adrenergic Agents Phase 3
7 Antihypertensive Agents Phase 3
8
Bleomycin Approved, Investigational Phase 2 11056-06-7 5360373
9 Antibiotics, Antitubercular Phase 2
10 Anti-Bacterial Agents 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 30 GNAQ

Anatomical Context for Capillary Malformations, Congenital

MalaCards organs/tissues related to Capillary Malformations, Congenital:

42
Endothelial, Skin

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 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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