CMC
MCID: CPL011
MIFTS: 35

Capillary Malformations, Congenital, 1, Somatic, Mosaic (CMC) malady

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

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

Aliases & Descriptions for Capillary Malformations, Congenital, 1, Somatic, Mosaic:

Name: Capillary Malformations, Congenital, 1, Somatic, Mosaic 54
Capillary Malformations, Congenital 54 66 29
Nevi Flammei, Familial Multiple 50 69
Familial Multiple Nevi Flammei 56 66
Capillary Malformations, Hereditary 13
Familial Multiple Port-Wine Stains 56
Hereditary Capillary Malformations 66
Port-Wine Stain Familial Multiple 50
Strawberry Nevus of Skin 69
Capillary Malformations 66
Port-Wine Stain 66
Cmal 66
Cmc 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

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


Classifications:



External Ids:

OMIM 54 163000
Orphanet 56 ORPHA624
ICD10 via Orphanet 34 Q82.5
MESH via Orphanet 43 D019339
UMLS via Orphanet 70 C0235752
MeSH 42 D054079

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... (163000) more...

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 edema, seizures and hemiplegia. An important gene associated with Capillary Malformations, Congenital, 1, Somatic, Mosaic is GNAQ (G Protein Subunit Alpha Q). The drugs Timolol and Ephedrine have been mentioned in the context of this disorder. Affiliated tissues include endothelial and skin.

UniProtKB/Swiss-Prot : 66 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 54)
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-facial port-wine stain syndrome 12.3
5 autism with port-wine stain 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 parkes weber syndrome 11.3
9 chronic mucocutaneous candidiasis 11.3
10 megalencephaly 11.1
11 cerebral cavernous malformations-1 11.1
12 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 10.9
13 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 10.9
14 cerebral cavernous malformations 3 10.9
15 cerebral cavernous malformations-2 10.9
16 immunodeficiency 31c, autosomal dominant 10.9
17 chudley-mccullough syndrome 10.8
18 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 10.7
19 phacomatosis pigmentovascularis 10.7
20 noonan syndrome 1 10.7
21 n-terminal acetyltransferase deficiency 10.7
22 hemihyperplasia-multiple lipomatosis syndrome 10.7
23 hemimegalencephaly 10.7
24 arteriovenous malformation 10.2
25 nevi flammei 10.0
26 microcephaly 9.9
27 polymicrogyria 9.8
28 cerebritis 9.8
29 lupus erythematosus 9.8
30 neonatal lupus erythematosus 9.8
31 candidiasis 9.7
32 b-cell lymphomas 9.7
33 arthropathy 9.7
34 lymphoma 9.7
35 osteoporosis 9.7
36 hemiplegia 9.7
37 tetralogy of fallot 9.7
38 cutis marmorata telangiectatica congenita 9.7
39 hydrocephalus 9.7
40 polydactyly 9.7
41 iritis 9.5
42 mastocytosis 9.5
43 weber syndrome 9.5
44 sagittal sinus thrombosis 9.5
45 angiolipoma 9.5
46 endotheliitis 9.5
47 cutaneous mastocytosis 9.5
48 cerebral hemorrhage 9.5
49 hypotrichosis 9.5
50 immune hydrops fetalis 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 by clinical synopsis from OMIM:

163000

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

Drugs for Capillary Malformations, Congenital, 1, Somatic, Mosaic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 138)
id 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
Ephedrine Approved Phase 3 299-42-3 9294
3
Pseudoephedrine Approved Phase 3 90-82-4 7028
4
Propranolol Approved, Investigational Phase 2, Phase 3, Phase 1 525-66-6 4946
5
Nadolol Approved Phase 3,Phase 2 42200-33-9 39147
6
Atenolol Approved Phase 3 29122-68-7 2249
7
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
8
Acebutolol Approved Phase 3 37517-30-9 1978
9 tannic acid Approved, Nutraceutical Phase 3
10
Maleic acid Experimental Phase 3,Phase 2,Phase 1 110-16-7 444266
11 Adrenergic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
12 Nasal Decongestants Phase 3
13 Adrenergic Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
14 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Early Phase 1
15 Adrenergic beta-Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
16 Tetrahydrozoline Phase 3
17 Ophthalmic Solutions Phase 3
18 Peripheral Nervous System Agents Phase 3,Phase 2
19 Vasoconstrictor Agents Phase 3
20 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1,Early Phase 1
21 Anti-Arrhythmia Agents Phase 3,Phase 2,Phase 1,Early Phase 1
22 Antihypertensive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
23 Respiratory System Agents Phase 3
24 Autonomic Agents Phase 3,Phase 2
25 Sympatholytics Phase 3,Phase 2
26 Vasodilator Agents Phase 2, Phase 3, Phase 1
27 Adrenergic beta-1 Receptor Antagonists Phase 3
28 Brimonidine Tartrate Phase 3 70359-46-5
29 Adrenergic Agonists Phase 3
30 Adrenergic alpha-2 Receptor Agonists Phase 3
31 Adrenergic alpha-Agonists Phase 3
32
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
33
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
34
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
35
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
36
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
37
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
38
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
39
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
40
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
41
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
42
Bleomycin Approved Phase 2 11056-06-7 5360373
43
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
44
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
45 Endothelin Receptor Antagonists Phase 2
46 Prednisolone acetate Phase 2
47 interferons Phase 2
48 glucocorticoids Phase 2
49 Adjuvants, Immunologic Phase 2
50 Gastrointestinal Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 80)
id Name Status NCT ID Phase
1 A Pilot Study of Hemoporfin PDT in Children With Port-wine Stain Not yet recruiting NCT03125057 Phase 4
2 Postmarketing Safety Study of Hemoporfin in Patients With Port Wine Stain Not yet recruiting NCT03181984 Phase 4
3 Treatment of Port Wine Stains in Children With Pulsed Dye Laser and Timolol Gel Unknown status NCT01272609 Phase 3
4 Topical Timolol for Superficial Infantile Hemangioma Unknown status NCT01685398 Phase 3
5 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
6 Nadolol Versus Propranolol in Children With Infantile Hemangiomas Recruiting NCT02505971 Phase 3
7 Efficacy and Safety of Propranolol Versus Atenolol on the Proliferative Phase of Infantile Hemangioma Recruiting NCT02342275 Phase 3
8 Onreltea (Brimonidine) Gel In Pediatric Patients With Capillary Malformations Not yet recruiting NCT02764411 Phase 3
9 MELABLOCK: A Clinical Trial on the Efficacy and Safety of Propranolol 80 mg in Melanoma Patients Not yet recruiting NCT02962947 Phase 2, Phase 3
10 Propranolol in Capillary Hemangiomas Terminated NCT00744185 Phase 2, Phase 3
11 Efficacy and Safety of Propranolol Versus Acebutolol on the Proliferative Phase of Infantile Hemangioma Terminated NCT01743885 Phase 3
12 Treatment of Resistant Port-wine Stains With Bosentan and Pulsed Dye Laser: a Pilot Study Unknown status NCT02317679 Phase 2
13 Study in Infants With Infantile Hemangioma to Compare Propranolol Gel to Placebo Completed NCT01512173 Phase 2
14 Nadolol for Proliferating Infantile Hemangiomas Completed NCT01010308 Phase 2
15 The Effects of Aldara as an Adjunct to Laser Treatment Completed NCT00979550 Phase 2
16 Topical Timolol Gel for the Treatment of Infantile Hemangiomas Completed NCT02145884 Phase 2
17 Measurement Skin Temperature During Pulsed Laser Exposure Completed NCT00540917 Phase 2
18 Comparative Study of the Use of Beta Blocker and Oral Corticosteroid in the Treatment of Infantile Hemangioma Completed NCT01072045 Phase 2
19 A Phase II Study of Imiquimod 5 % Cream for the Treatment of Hemangioma in Infancy Completed NCT00601016 Phase 2
20 Efficacy, Safety and Pharmacokinetics of Topical Timolol in Infants With Infantile Hemangioma (IH) Recruiting NCT02913612 Phase 2
21 Topical Timolol for Infantile Hemangioma in Early Proliferative Phase Recruiting NCT02731287 Phase 2
22 A Phase I/II Trial for Intravitreous Treatment of Severe Ocular Von Hippel-Lindau Disease Using a Combination of the PDGF Antagonist E10030 and the VEGF Antagonist Ranibizumab Recruiting NCT02859441 Phase 1, Phase 2
23 Electrosclerotherapy for Capillary Malformations Not yet recruiting NCT02883023 Phase 2
24 Dose-Finding of Propranolol in Combination With Metronomic Fixed Oral Cyclophosphamide Based on Bivariate Efficacy-tolerability Outcome in Patients With Locally Advanced or Metastatic Angiosarcoma: A Collaborative and Innovative Phase I-II Sequential Tria Not yet recruiting NCT02732678 Phase 1, Phase 2
25 Corticosteroids With Placebo Versus Corticosteroids With Propranolol Treatment of Infantile Hemangiomas (IH) Terminated NCT01074437 Phase 2
26 Clinical Trial of Vincristine vs. Prednisolone for Treatment of Complicated Hemangiomas Terminated NCT00555464 Phase 2
27 Combined Use of Pulsed Dye Laser and Topical Antiangiogenic Agents for Treatment of Port Wine Stain Birthmarks Withdrawn NCT00969397 Phase 1, Phase 2
28 Timolol Option for Ulcerated Hemangiomas (TOUCH Trial) Withdrawn NCT01408056 Phase 2
29 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2
30 A Randomized Trial to Study Combined Pulsed Dye Laser and Rapamycin Treatment of Port Wine Stain Birthmarks. Completed NCT00800722 Phase 1
31 Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks: Comparison of 577 nm Versus 595 nm Wavelengths Completed NCT00573729 Phase 1
32 A Randomized Trial to Study Combined Pulsed Dye Laser and Rapamycin Treatment of Port Wine Stain Birthmarks. Completed NCT00830466 Phase 1
33 Treatment of Vascular Lesions With a Tandem 532/1064 nm Laser Completed NCT00585338 Phase 1
34 Optical Clearing of the Skin in Conjunction With Laser Treatments Completed NCT00580736 Phase 1
35 Pathogenic Mechanisms of Port Wine Stain and Repository of Port Wine Stain Biopsy Samples Recruiting NCT02051101 Phase 1
36 Combined Bipolar Radiofrequency&Pulsed Dye Laser Treatment Recruiting NCT01775722 Phase 1
37 Novel Treatment for Port Wine Stain Birthmarks Recruiting NCT01924273 Phase 1
38 Timolol for the Prevention of Proliferation of Infantile Hemangioma (TiPPIH Trial) Terminated NCT01434849 Phase 1
39 Combined Alexandrite and Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks Withdrawn NCT00580944 Phase 1
40 Combined Pulsed Dye Laser and Topical Ranibizumab for Treatment of Port Wine Stain Birthmarks Withdrawn NCT00667472 Phase 1
41 Pilot Study on the Use of the Matrix Radiofrequencyfor Treatment of Port Wine Stain Birthmarks Withdrawn NCT01166919 Phase 1
42 Assessing the Effects of Air-cooling on Capillary Malformations Unknown status NCT01735734
43 Topical Timolol 0.5% Solution for Proliferating Infantile Hemangiomas Unknown status NCT01147601 Early Phase 1
44 The Angioma's Treatment Evaluation With Laser Doppler Imaging (LDI) Unknown status NCT01759082
45 Evaluation and Optimization of the Technical and Clinical Performance of the Lumenis ONE Platform Unknown status NCT00247299
46 A Prospective Study Comparing the Incidence of Infantile Hemangiomas Following Normal Pregnancies Versus Pregnancies Complicated by Placental Abnormalities Unknown status NCT00490607
47 Clinical Characteristics of Lip Hemangiomas Unknown status NCT02351245
48 Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations Unknown status NCT01774916
49 Dynamic Epidermal Cooling During Pulsed Dye Laser Treatment of Port Wine Stain Birthmark at High Fluences Completed NCT00540371
50 Combined Photodynamic and Pulsed Dye Laser Treatment of Port Wine Stains Completed NCT00556946

Search 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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