MCID: CPL013
MIFTS: 39

Capillary Malformations, Congenital

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal 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 megalencephaly-capillary malformation-polymicrogyria syndrome and microcephaly-capillary malformation syndrome. An important gene associated with Capillary Malformations, Congenital is GNAQ (G Protein Subunit Alpha Q). The drugs Timolol and Propranolol have been mentioned in the context of this disorder. Affiliated tissues include skin and endothelial, 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 61)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 12.6
2 microcephaly-capillary malformation syndrome 12.6
3 capillary malformation-arteriovenous malformation 12.6
4 autism with port-wine stain 12.4
5 autism-facial port-wine stain syndrome 12.4
6 sturge-weber syndrome 12.1
7 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.0
8 retinal capillary malformation 12.0
9 klippel-trenaunay-weber syndrome 12.0
10 phacomatosis pigmentovascularis 11.8
11 chronic mucocutaneous candidiasis 11.8
12 parkes weber syndrome 11.5
13 cobb syndrome 11.5
14 cerebral cavernous malformations 11.3
15 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.3
16 chudley-mccullough syndrome 11.1
17 cerebral cavernous malformations 2 11.0
18 cerebral cavernous malformations 3 11.0
19 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.0
20 candidiasis, familial, 1 10.9
21 immunodeficiency 31c 10.9
22 pyogenic granuloma 10.5
23 weber syndrome 10.4
24 cutis marmorata telangiectatica congenita 10.2
25 basal cell carcinoma 1 10.1
26 angioma, tufted 10.1
27 hemangioma 10.1
28 basal cell carcinoma 10.1
29 localized scleroderma 10.1
30 lymphatic malformations 10.1
31 phace syndrome 10.1
32 lentigines 10.0
33 noonan syndrome 1 10.0
34 arteriovenous malformation 10.0
35 acoustic neuroma 10.0
36 tuberous sclerosis 10.0
37 epilepsy 10.0
38 neuroma 10.0
39 dermatitis 10.0
40 capillary hemangioma 10.0
41 contact dermatitis 10.0
42 allergic contact dermatitis 10.0
43 lipomatosis 10.0
44 turner syndrome 10.0
45 spindle cell carcinoma 10.0
46 cluster headache 10.0
47 microcystic lymphatic malformation 10.0
48 pseudo-turner syndrome 10.0
49 headache 10.0
50 endotheliitis 10.0

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 23)
# 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 abnormality of the cranial nerves 59 32 occasional (7.5%) Occasional (29-5%) HP:0001291
22 irregular hyperpigmentation 59 Very frequent (99-80%)
23 abnormality of the lower limb 59 Occasional (29-5%)

Drugs & Therapeutics for Capillary Malformations, Congenital

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

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Timolol Approved Phase 3,Phase 2,Phase 1,Early Phase 1 26839-75-8 33624 5478
2
Propranolol Approved, Investigational Phase 2, Phase 3,Phase 3 525-66-6 4946
3
Nadolol Approved Phase 3,Phase 2 42200-33-9 39147
4
Atenolol Approved Phase 3 29122-68-7 2249
5
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
6
Acebutolol Approved, Investigational Phase 3 37517-30-9 1978
7 tannic acid Approved, Nutraceutical Phase 3
8 Adrenergic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
9 Adrenergic Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
10 Adrenergic beta-Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
11 Anti-Arrhythmia Agents Phase 3,Phase 2,Phase 1,Early Phase 1
12 Antihypertensive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
13 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Early Phase 1
14 Pharmaceutical Solutions Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
15 Vasodilator Agents Phase 2, Phase 3,Phase 3
16 Autonomic Agents Phase 3,Phase 2
17 Peripheral Nervous System Agents Phase 3,Phase 2
18 Sympatholytics Phase 3,Phase 2
19 Adrenergic Agonists Phase 3
20 Adrenergic alpha-2 Receptor Agonists Phase 3
21 Adrenergic alpha-Agonists Phase 3
22 Brimonidine Tartrate Phase 3 70359-46-5
23 Adrenergic beta-1 Receptor Antagonists Phase 3
24
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
25
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
26
Imiquimod Approved, Investigational Phase 2,Not Applicable 99011-02-6 57469
27
Everolimus Approved Phase 2,Phase 1,Not Applicable 159351-69-6 6442177
28
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
29
Sirolimus Approved, Investigational Phase 2,Phase 1,Not Applicable 53123-88-9 5284616 6436030 46835353
30
Bleomycin Approved, Investigational Phase 2 11056-06-7 5360373
31
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
32
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
33
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
34 Strawberry Approved, Nutraceutical Phase 2
35
Maleic acid Experimental Phase 2,Phase 1 110-16-7 444266
36 Endothelin Receptor Antagonists Phase 2
37 Anti-Inflammatory Agents Phase 2
38 Antineoplastic Agents, Hormonal Phase 2
39 glucocorticoids Phase 2
40 Hormone Antagonists Phase 2
41 Hormones Phase 2
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
43 Adjuvants, Immunologic Phase 2,Not Applicable
44 Interferon Inducers Phase 2,Not Applicable
45 interferons Phase 2,Not Applicable
46 Anti-Bacterial Agents Phase 2,Phase 1,Not Applicable
47 Antibiotics, Antitubercular Phase 2,Phase 1,Not Applicable
48 Antifungal Agents Phase 2,Phase 1,Not Applicable
49 Anti-Infective Agents Phase 2,Phase 1,Not Applicable
50 Immunosuppressive Agents Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 68)
# Name Status NCT ID Phase Drugs
1 A Pilot Study of Hemoporfin PDT in Children With Port-wine Stain Recruiting NCT03125057 Phase 4 Hemoporfin PDT
2 Postmarketing Safety Study of Hemoporfin in Patients With Port Wine Stain Recruiting NCT03181984 Phase 4 Hemoporfin
3 Treatment of Port Wine Stains in Children With Pulsed Dye Laser and Timolol Gel Unknown status NCT01272609 Phase 3 Timolol + LCP
4 Study to Demonstrate the Efficacy and Safety of Propranolol Oral Solution in Infants With Proliferating Infantile Hemangiomas Requiring Systemic Therapy Completed NCT01056341 Phase 2, Phase 3 Propranolol;Placebo
5 Onreltea (Brimonidine) Gel In Pediatric Patients With Capillary Malformations Recruiting NCT02764411 Phase 3 Brimonidine 0.33% gel
6 Comparative Study to Evaluate the Effectiveness of Atenolol and Propranolol in the Treatment of Infantile Hemangiomas Recruiting NCT03237637 Phase 3 oral propranolol;oral atenolol
7 Nadolol Versus Propranolol in Children With Infantile Hemangiomas Recruiting NCT02505971 Phase 3 Nadolol;Propranolol
8 Efficacy and Safety of Propranolol Versus Atenolol on the Proliferative Phase of Infantile Hemangioma Recruiting NCT02342275 Phase 3 Propranolol;Atenolol
9 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Not yet recruiting NCT03518398 Phase 3
10 Efficacy and Safety of Propranolol Versus Acebutolol on the Proliferative Phase of Infantile Hemangioma Terminated NCT01743885 Phase 3 Acebutolol;Propanolol
11 Propranolol in Capillary Hemangiomas Terminated NCT00744185 Phase 2, Phase 3 propranolol treatment;placebo treatment
12 Topical Timolol for Infantile Hemangioma in Early Proliferative Phase Unknown status NCT02731287 Phase 2 Timolol;Placebo
13 Treatment of Resistant Port-wine Stains With Bosentan and Pulsed Dye Laser: a Pilot Study Completed NCT02317679 Phase 2 Bosentan
14 Measurement Skin Temperature During Pulsed Laser Exposure Completed NCT00540917 Phase 2
15 Topical Timolol Gel for the Treatment of Infantile Hemangiomas Completed NCT02145884 Phase 2 timolol maleate 0.5% gel
16 Study in Infants With Infantile Hemangioma to Compare Propranolol Gel to Placebo Completed NCT01512173 Phase 2 propranolol gel;Placebo
17 Comparative Study of the Use of Beta Blocker and Oral Corticosteroid in the Treatment of Infantile Hemangioma Completed NCT01072045 Phase 2 Propranolol;Prednisone
18 Nadolol for Proliferating Infantile Hemangiomas Completed NCT01010308 Phase 2 Nadolol
19 A Phase II Study of Imiquimod 5 % Cream for the Treatment of Hemangioma in Infancy Completed NCT00601016 Phase 2 Imiquimod 5% cream
20 Electrosclerotherapy for Capillary Malformations Recruiting NCT02883023 Phase 2 Intralesional bleomycin injection
21 Efficacy, Safety and Pharmacokinetics of Topical Timolol in Infants With Infantile Hemangioma (IH) Recruiting NCT02913612 Phase 2 0.25% Timolol Maleate Gel Forming Solution;0.5% Timolol Maleate Gel Forming Solution
22 The Effects of Aldara as an Adjunct to Laser Treatment Terminated NCT00979550 Phase 2 Imiquimod;non-medicated petroleum cream
23 Corticosteroids With Placebo Versus Corticosteroids With Propranolol Treatment of Infantile Hemangiomas (IH) Terminated NCT01074437 Phase 2 Prednisolone (Corticosteroid);Propranolol;Placebo
24 Combined Use of Pulsed Dye Laser and Topical Antiangiogenic Agents for Treatment of Port Wine Stain Birthmarks Withdrawn NCT00969397 Phase 1, Phase 2 Topical Antiangiogenic
25 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2 Everolimus
26 Timolol Option for Ulcerated Hemangiomas (TOUCH Trial) Withdrawn NCT01408056 Phase 2 Timolol 0.5% Gel Forming Solution (GFS);Mupirocin 2% Ointment
27 A Randomized Trial to Study Combined Pulsed Dye Laser and Rapamycin Treatment of Port Wine Stain Birthmarks. Completed NCT00800722 Phase 1 Rapamycin Treatment of Port Wine Stain
28 A Randomized Trial to Study Combined Pulsed Dye Laser and Rapamycin Treatment of Port Wine Stain Birthmarks. Completed NCT00830466 Phase 1 Laser and rapamycin versus laser alone
29 Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks: Comparison of 577 nm Versus 595 nm Wavelengths Completed NCT00573729 Phase 1
30 Treatment of Vascular Lesions With a Tandem 532/1064 nm Laser Completed NCT00585338 Phase 1
31 Optical Clearing of the Skin in Conjunction With Laser Treatments Completed NCT00580736 Phase 1
32 Novel Treatment for Port Wine Stain Birthmarks Recruiting NCT01924273 Phase 1 Talaporfin sodium
33 Timolol for the Prevention of Proliferation of Infantile Hemangioma (TiPPIH Trial) Terminated NCT01434849 Phase 1 topical 0.5% Timolol maleate;Control (placebo) group
34 Combined Alexandrite and Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks Withdrawn NCT00580944 Phase 1
35 Combined Pulsed Dye Laser and Topical Ranibizumab for Treatment of Port Wine Stain Birthmarks Withdrawn NCT00667472 Phase 1 Ranibizumab
36 Pilot Study on the Use of the Matrix Radiofrequencyfor Treatment of Port Wine Stain Birthmarks Withdrawn NCT01166919 Phase 1
37 Assessing the Effects of Air-cooling on Capillary Malformations Unknown status NCT01735734
38 The Angioma's Treatment Evaluation With Laser Doppler Imaging (LDI) Unknown status NCT01759082
39 Evaluation and Optimization of the Technical and Clinical Performance of the Lumenis ONE Platform Unknown status NCT00247299 Not Applicable
40 Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations Unknown status NCT01774916 Not Applicable
41 Monitoring the Response of Port Wine Stain Birthmarks to Laser Therapy With Wide-field Functional Imaging Technologies Completed NCT01333553
42 Dynamic Epidermal Cooling During Pulsed Dye Laser Treatment of Port Wine Stain Birthmark at High Fluences Completed NCT00540371
43 Port Wine Stains Treatment Matrix RF Study Completed NCT01101360 Not Applicable
44 Combined Photodynamic and Pulsed Dye Laser Treatment of Port Wine Stains Completed NCT00556946 Not Applicable Combined Photodynamic & Pulsed Dye Laser Treatment
45 Evaluate the Port-wine Stain Birthmark Treatment Before and After Pulsed Dye Laser Treatment Completed NCT01774552
46 Combined Bipolar Radiofrequency&Pulsed Dye Laser Treatment Completed NCT01775722 Not Applicable
47 Combining Topical Imiquimod 5% Cream With a Pulsed Dye Laser to Treat Port Wine Stain Birthmarks Completed NCT00585247 Not Applicable Imiquimod
48 Treatment of Naevus Flammeus Using Intense Pulsed Light and Pulsed Dye Laser Completed NCT00365118 Not Applicable
49 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
50 Pilot Study of PDL to Treat BCC and SCCIS Completed NCT01245972 Not Applicable

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
Skin, Endothelial

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
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