CMC
MCID: CPL013
MIFTS: 53

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 72
Familial Multiple Nevi Flammei 12 58 72 29 15
Nevi Flammei, Familial Multiple 57 20 44 70
Cmc 57 12 72
Familial Multiple Port-Wine Stains 12 58
Capillary Malformations 57 72
Capillary Malformation 29 6
Port-Wine Stain 57 72
Cmal 57 72
Capillary Malformations, Congenital, 1, Somatic, Mosaic 57
Capillary Malformations, Hereditary 13
Congenital Capillary Malformations 12
Hereditary Capillary Malformations 72
Port-Wine Stain Familial Multiple 20
Capillary Malformations; Cmal 57
Strawberry Nevus of Skin 70

Characteristics:

Orphanet epidemiological data:

58
familial multiple nevi flammei
Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
capillary malformations, congenital:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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) (Updated 05-Apr-2021)

MalaCards based summary : Capillary Malformations, Congenital, also known as familial multiple nevi flammei, is related to klippel-trenaunay-weber syndrome and sturge-weber syndrome. An important gene associated with Capillary Malformations, Congenital is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Circadian entrainment and Cardiac conduction. The drugs Timolol and Propranolol have been mentioned in the context of this disorder. Affiliated tissues include endothelial, skin and eye, and related phenotypes are arteriovenous malformation and nevus flammeus

Disease Ontology : 12 A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover.

UniProtKB/Swiss-Prot : 72 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 in the Rare Capillary Malformation family:

Capillary Malformations, Congenital

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

(show top 50) (show all 315)
# Related Disease Score Top Affiliating Genes
1 klippel-trenaunay-weber syndrome 11.8
2 sturge-weber syndrome 11.7
3 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.6
4 phacomatosis pigmentovascularis 11.5
5 cerebral cavernous malformations 11.5
6 autism with port-wine stain 11.5
7 chronic mucocutaneous candidiasis 11.5
8 autism-facial port-wine stain syndrome 11.4
9 parkes weber syndrome 11.4
10 megalencephaly-capillary malformation-polymicrogyria syndrome 11.4
11 microcephaly-capillary malformation syndrome 11.3
12 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.2
13 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.1
14 capillary malformation-arteriovenous malformation 2 11.1
15 cerebral cavernous malformations 2 11.1
16 cerebral cavernous malformations 3 11.1
17 rare capillary malformation 11.1
18 rare genetic capillary malformation 11.1
19 rare capillary malformation with associated anomalies 11.1
20 retinal capillary malformation 11.1
21 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.1
22 pik3ca-related overgrowth spectrum 11.0
23 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.0
24 ogden syndrome 11.0
25 hemihyperplasia-multiple lipomatosis syndrome 11.0
26 immunodeficiency 31c 10.9
27 candidiasis, familial, 1 10.9
28 hemangioma 10.8
29 weber syndrome 10.7
30 dowling-degos disease 1 10.6
31 pyogenic granuloma 10.6
32 intraocular pressure quantitative trait locus 10.5
33 arteriovenous malformation 10.5
34 basal cell carcinoma 10.5
35 purpura 10.5
36 localized scleroderma 10.4
37 telangiectasis 10.4
38 chudley-mccullough syndrome 10.3
39 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
40 polymicrogyria 10.3
41 cutis marmorata telangiectatica congenita 10.3
42 phace association 10.3
43 lymphangioma 10.3
44 ventricular septal defect 10.3
45 heart septal defect 10.3
46 retinal vascular disease 10.3
47 herpes zoster 10.3
48 angiomatosis 10.3
49 posttransplant acute limbic encephalitis 10.3
50 osteoarthritis 10.3

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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arteriovenous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100026
2 nevus flammeus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001052
3 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
4 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
5 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
6 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
7 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
8 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
9 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
10 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
11 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
12 abnormal cranial nerve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001291
13 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
14 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
15 venous insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0005293
16 abnormality of the upper limb 58 31 occasional (7.5%) Occasional (29-5%) HP:0002817
17 lower limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100559
18 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
19 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
20 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
21 seizure 31 occasional (7.5%) HP:0001250
22 seizures 58 Occasional (29-5%)
23 irregular hyperpigmentation 58 Very frequent (99-80%)
24 abnormality of the lower limb 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
multiple nevi flammei
port-wine stain

Clinical features from OMIM®:

163000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Capillary Malformations, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 ATP7A CACNA1S GNAQ JSRP1 RBL2 RYR1

Drugs & Therapeutics for Capillary Malformations, Congenital

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

(show top 50) (show all 137)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Timolol Approved Phase 4 26839-75-8 33624 5478
2
Propranolol Approved, Investigational Phase 4 525-66-6 4946
3
Captopril Approved Phase 4 62571-86-2 44093
4
Maleic acid Experimental Phase 4 110-16-7 444266
5 Adrenergic Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Antihypertensive Agents Phase 4
8 Anesthetics Phase 4
9 Anti-Arrhythmia Agents Phase 4
10 Pharmaceutical Solutions Phase 4
11 Adrenergic Antagonists Phase 4
12 Adrenergic beta-Antagonists Phase 4
13 Vasodilator Agents Phase 4
14 Ophthalmic Solutions Phase 4
15 Angiotensin-Converting Enzyme Inhibitors Phase 4
16
protease inhibitors Phase 4
17 HIV Protease Inhibitors Phase 4
18
tannic acid Approved Phase 3 1401-55-4
19
Nadolol Approved Phase 3 42200-33-9 39147
20
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
21
Atenolol Approved Phase 3 29122-68-7 2249
22
Acebutolol Approved, Investigational Phase 3 37517-30-9 1978
23 Sympatholytics Phase 3
24 Adrenergic alpha-Agonists Phase 3
25 Brimonidine Tartrate Phase 3 70359-46-5
26 Adrenergic Agonists Phase 3
27 Sympathomimetics Phase 3
28 Adrenergic beta-1 Receptor Antagonists Phase 3
29
Bleomycin Approved, Investigational Phase 2 11056-06-7 5360373
30
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
31
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
32 Strawberry Approved Phase 2
33
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
34
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
36
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
37
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
38
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
39
Ranitidine Approved, Withdrawn Phase 2 66357-35-5, 66357-59-3, 82530-72-1 3001055
40
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
41 Endothelin Receptor Antagonists Phase 2
42 Immunologic Factors Phase 2
43 Adjuvants, Immunologic Phase 2
44 interferons Phase 2
45 Antiviral Agents Phase 2
46 Hormone Antagonists Phase 2
47 Hormones Phase 2
48 Methylprednisolone Acetate Phase 2
49 glucocorticoids Phase 2
50 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 A Pilot Study of Hemoporfin Photodynamic Therapy in Children (7-14 Years Old) With Port-wine Stain Completed NCT03125057 Phase 4 Hemoporfin PDT
2 Postmarketing Safety Study of Hemoporfin in Patients With Port Wine Stain Recruiting NCT03181984 Phase 4 Hemoporfin
3 A Pilot Study of Hemoporfin Photodynamic Therapy in Children (2-7 Years Old) With Port-wine Stain Recruiting NCT04106258 Phase 4 Hemoporfin PDT
4 Evaluation of the Efficacy of Captopril Versus Propranolol and Timolol as a Treatment of Infantile Capillary Hemangioma Recruiting NCT04288700 Phase 4 oral propranolol;Oral Captopril;intralesional propranolol injection;topical Timolol maleate 0.5% eye drops
5 Comparative Study to Evaluate the Effectiveness of Atenolol and Propranolol in the Treatment of Infantile Hemangiomas Unknown status NCT03237637 Phase 3 oral propranolol;oral atenolol
6 Treatment of Port Wine Stains in Children With Pulsed Dye Laser and Timolol Gel Unknown status NCT01272609 Phase 3 Timolol + LCP
7 A Randomised, Controlled, Multidose, Multicentre, Adaptive Phase II/III Study in Infants With Proliferating Infantile Hemangiomas (IHs) Requiring Systemic Therapy to Compare 4 Regimens of Propranolol (1 or 3 mg/kg/Day for 3 or 6 Months) to Placebo (Double Blind). Completed NCT01056341 Phase 2, Phase 3 Propranolol;Placebo
8 Nadolol Versus Propranolol in Children With Infantile Hemangiomas: a Randomized, Controlled, Double-blinded Trial Completed NCT02505971 Phase 3 Nadolol;Propranolol
9 Efficacy and Safety of Propranolol Versus Atenolol on the Proliferative Phase of Infantile Hemangioma Completed NCT02342275 Phase 3 Propranolol;Atenolol
10 Onreltea (Brimonidine) Gel In Pediatric Patients With Capillary Malformations: A Prospective, Open-label, Cohort Study Terminated NCT02764411 Phase 3 Brimonidine 0.33% gel
11 Efficacy and Safety of Propranolol Versus Acebutolol on the Proliferative Phase of Infantile Hemangioma Terminated NCT01743885 Phase 3 Acebutolol;Propanolol
12 Double Blind, Randomised, Placebo-controlled Study of Propranolol in Infantile Capillary Hemangiomas Terminated NCT00744185 Phase 2, Phase 3 propranolol treatment;placebo treatment
13 Electrosclerotherapy as a Novel Treatment Option for Capillary Malformations: A Pilot Study Unknown status NCT02883023 Phase 2 Intralesional bleomycin injection
14 Phase II Clinical Trial is to Compare Epidermal Temperature Measurements During 1.Laser Treatment at Standard Treatment Energies 2.Cryogen Spray Cooling (CSC) Plus Laser Treatment. 3.Contact Cooling Plus Laser Treatment. Completed NCT00540917 Phase 2
15 Treatment of Port-wine Stains by Bosentan in Addition to Pulsed Dye Laser (PDL) in Children or Young Adults Who Previously Failed to Respond to PDL Alone: a Monocentric Pilot Study Completed NCT02317679 Phase 2 Bosentan
16 Efficacy and Safety of Topical Timolol Maleate 0.5% Solution for Superficial Infantile Hemangioma in Early Proliferative Phase. A Randomized Clinical Trial Completed NCT02731287 Phase 2 Timolol;Placebo
17 A Comparative Study of the Use of Beta Blocker and Oral Corticosteroid in the Treatment of Proliferative and Involuting Cutaneous Infantile Hemangioma Completed NCT01072045 Phase 2 Propranolol;Prednisone
18 A Phase II Study of Imiquimod 5 % Cream for the Treatment of Hemangioma in Infancy Completed NCT00601016 Phase 2 Imiquimod 5% cream
19 Nadolol for Proliferating Infantile Hemangiomas: A Prospective Open Label Study With a Historical Control Completed NCT01010308 Phase 2 Nadolol
20 A Randomised, Double Blind, Controlled, Multicentre Study in Infants With Infantile Hemangioma to Compare Propranolol Gel to Placebo. Completed NCT01512173 Phase 2 propranolol gel;Placebo
21 Efficacy, Safety, and Pharmacokinetics of Timolol in Infants With Infantile Hemangioma (IH) Completed NCT02913612 Phase 2 0.25% Timolol Maleate Gel Forming Solution;0.5% Timolol Maleate Gel Forming Solution
22 Topical Timolol Gel for the Treatment of Infantile Hemangiomas Completed NCT02145884 Phase 2 timolol maleate 0.5% gel
23 '' Efficacy of Propranolol in the Treatment of Infantile Hemangioma" Not yet recruiting NCT04684667 Phase 2 Propranolol Therapy for Infantile Hemangioma
24 The Effects of Aldara as an Adjunct to Laser Treatment of Port Wine Stains Terminated NCT00979550 Phase 2 Imiquimod;non-medicated petroleum cream
25 A Phase II, Randomized, Double-Blind Comparison of Corticosteroid and Corticosteroids With Propranolol Treatment of Infantile Hemangiomas (IH) Terminated NCT01074437 Phase 2 Prednisolone (Corticosteroid);Propranolol;Placebo
26 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
27 The Efficacy of Timolol 0.5% Gel Forming Solution for the Treatment of Ulcerated Hemangiomas Withdrawn NCT01408056 Phase 2 Timolol 0.5% Gel Forming Solution (GFS);Mupirocin 2% Ointment
28 Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks: Comparison of 577 nm Versus 595 nm Wavelengths Completed NCT00573729 Phase 1
29 Novel Treatment for Port Wine Stain Birthmarks Completed NCT01924273 Phase 1 Talaporfin sodium
30 Optical Clearing of the Skin in Conjunction With Laser Treatments Completed NCT00580736 Phase 1
31 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
32 Phase I Combined Use of Pulsed Dye Laser and Rapamycin Completed NCT00800722 Phase 1 Rapamycin Treatment of Port Wine Stain
33 Phase 1 Study of Topical Beta Blocker to Prevent the Proliferative Stage of Infantile Hemangioma Terminated NCT01434849 Phase 1 topical 0.5% Timolol maleate;Control (placebo) group
34 Combined Pulsed Dye Laser and Topical Ranibizumab for Treatment of Port Wine Stain Birthmarks Withdrawn NCT00667472 Phase 1 Ranibizumab
35 Pilot Study on the Use of the Matrix Radiofrequency for Treatment of Port Wine Stain Birthmarks Withdrawn NCT01166919 Phase 1
36 Combined Alexandrite and Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks Withdrawn NCT00580944 Phase 1
37 An Observational Study as to the Effects of Cutaneous Air-cooling on Blood Vessel Diameter in Capillary Malformations Unknown status NCT01735734
38 French National Prospective Cohort of Children With Port Wine Stain on a Limb = "Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur" Unknown status NCT01364857
39 The Angioma's Treatment Evaluation With Laser Doppler Imaging (LDI) Unknown status NCT01759082
40 Evaluation and Optimization of the Technical and Clinical Performance of the Lumenis ONE Platform Unknown status NCT00247299
41 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Unknown status NCT03173352
42 Optimizing Timolol Maleate Treatment of Infantile Hemangioma by Doppler Ultrasound Examination: a Single Center, Open Cohort Study. Unknown status NCT03842631 Timolol Maleate 0.5% Oph Soln
43 Evaluation of Fractional Radiofrequency (Matrix RF) Stand Alone and Combined With PDL Treatment on Port Wine Stains Completed NCT01101360
44 Pathogenic Mechanisms of Port Wine Stain and Repository of Port Wine Stain Biopsy Samples Completed NCT02051101
45 Combining Topical Imiquimod 5% Cream With a Pulsed Dye Laser to Treat Port Wine Stain Birthmarks Completed NCT00585247 Imiquimod
46 Treatment of Naevus Flammeus Using Intense Pulsed Light and Pulsed Dye Laser Completed NCT00365118
47 A Pilot Study of Photo Acoustic Microscopy and Optical Coherence Tomography Imaging Technologies to Evaluate the Port-wine Stain Birthmark Treatment Before and After Pulsed Dye Laser Treatment. Completed NCT01774552
48 Combined Bipolar Radiofrequency and Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks Completed NCT01775722
49 The Role of Angiogenesis-related Pathways in the Development of Refractory Port Wine Stains Completed NCT03948997
50 Monitoring the Response of Port Wine Stain Birthmarks to Laser Therapy With Wide-field Completed NCT01333553

Search NIH Clinical Center for Capillary Malformations, Congenital

Cochrane evidence based reviews: nevi flammei, familial multiple

Genetic Tests for Capillary Malformations, Congenital

Genetic tests related to Capillary Malformations, Congenital:

# Genetic test Affiliating Genes
1 Capillary Malformation 29
2 Familial Multiple Nevi Flammei 29 GNAQ

Anatomical Context for Capillary Malformations, Congenital

MalaCards organs/tissues related to Capillary Malformations, Congenital:

40
Endothelial, Skin, Eye

Publications for Capillary Malformations, Congenital

Articles related to Capillary Malformations, Congenital:

(show all 12)
# Title Authors PMID Year
1
Novel genetic mutations in a sporadic port-wine stain. 57 6
25188413 2014
2
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. 57 6
23656586 2013
3
Familial multiple nevi flammei. 61 57
18115020 1949
4
Classification, diagnosis, and interventional radiologic management of vascular malformations. 57
16846771 2006
5
Cutaneous vascular lesions. 57
15814115 2005
6
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 57
14639529 2003
7
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. 57
12080389 2002
8
A locus for hereditary capillary malformations mapped on chromosome 5q. 57
11941483 2002
9
Familial nevus flammeus of the forehead and Unna's nevus. 57
3978851 1985
10
Familial multiple naevi flammei. 57
6716409 1984
11
Nevus flammeus of the forehead. 57
5681167 1968
12
Familial multiple nevi flammei. 61
8912575 1996

Variations for Capillary Malformations, Congenital

ClinVar genetic disease variations for Capillary Malformations, Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAQ NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) SNV Pathogenic 50853 rs397514698 GRCh37: 9:80412493-80412493
GRCh38: 9:77797577-77797577
2 GNAQ NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) SNV Pathogenic 50853 rs397514698 GRCh37: 9:80412493-80412493
GRCh38: 9:77797577-77797577

Expression for Capillary Malformations, Congenital

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

Pathways for Capillary Malformations, Congenital

Pathways related to Capillary Malformations, Congenital according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 RYR3 RYR2 RYR1 GNAQ CACNA1S
2
Show member pathways
12.53 TRDN RYR3 RYR2 RYR1 CACNA1S ATP7A
3
Show member pathways
12.43 RYR3 RYR2 RYR1 CACNA1S
4
Show member pathways
12.3 TRDN RYR3 RYR2 RYR1 ATP7A
5
Show member pathways
12.26 RYR3 RYR2 RYR1 GNAQ CACNA1S
6
Show member pathways
12.11 RYR3 RYR2 RYR1 GNAQ CACNA1S
7 11.91 RYR3 RYR2 RYR1 CACNA1S
8 11.87 RYR3 GNAQ CACNA1S
9 11.87 RYR3 RYR2 RYR1 GNAQ
10 11.81 TRDN RYR3 RYR2 RYR1 GNAQ CACNA1S
11 11.61 TRDN RYR2 CACNA1S
12 11.15 RYR3 RYR2 RYR1 CACNA1S
13 10.59 RYR1 CACNA1S
14 10.04 RYR3 RYR2 RYR1 GNAQ

GO Terms for Capillary Malformations, Congenital

Cellular components related to Capillary Malformations, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.58 RYR3 RYR2 RYR1
2 sarcolemma GO:0042383 9.54 RYR3 RYR2 RYR1
3 calcium channel complex GO:0034704 9.5 RYR3 RYR2 RYR1
4 I band GO:0031674 9.43 RYR1 CACNA1S
5 smooth endoplasmic reticulum GO:0005790 9.43 RYR3 RYR2 RYR1
6 sarcoplasmic reticulum GO:0016529 9.35 TRDN RYR3 RYR2 RYR1 JSRP1
7 junctional sarcoplasmic reticulum membrane GO:0014701 9.33 TRDN RYR2 RYR1
8 sarcoplasmic reticulum membrane GO:0033017 9.02 TRDN RYR3 RYR2 RYR1 JSRP1

Biological processes related to Capillary Malformations, Congenital according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 RYR3 RYR2 RYR1 CACNA1S ATP7A
2 calcium ion transport GO:0006816 9.73 RYR3 RYR2 RYR1 CACNA1S
3 ion transmembrane transport GO:0034220 9.72 TRDN RYR3 RYR2 RYR1 ATP7A
4 muscle contraction GO:0006936 9.67 TRDN RYR1 CACNA1S
5 calcium ion transmembrane transport GO:0070588 9.67 RYR3 RYR2 RYR1 CACNA1S
6 release of sequestered calcium ion into cytosol GO:0051209 9.58 RYR3 RYR2 RYR1
7 cellular calcium ion homeostasis GO:0006874 9.56 TRDN RYR3 RYR2 RYR1
8 inorganic cation transmembrane transport GO:0098662 9.48 RHAG ATP7A
9 response to caffeine GO:0031000 9.46 RYR2 RYR1
10 regulation of cardiac conduction GO:1903779 9.46 TRDN RYR3 RYR2 RYR1
11 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.13 TRDN RYR2 RYR1
12 cellular response to caffeine GO:0071313 8.92 RYR3 RYR2 RYR1 CACNA1S

Molecular functions related to Capillary Malformations, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 RYR3 RYR2 RYR1 PCDHA8 PCDHA6 PCDHA2
2 calmodulin binding GO:0005516 9.71 RYR3 RYR2 RYR1 CACNA1S
3 ion channel activity GO:0005216 9.62 RYR3 RYR2 RYR1 CACNA1S
4 calcium channel activity GO:0005262 9.56 RYR3 RYR2 RYR1 CACNA1S
5 calcium-release channel activity GO:0015278 9.33 RYR3 RYR2 RYR1
6 calcium-induced calcium release activity GO:0048763 9.13 RYR3 RYR2 RYR1
7 ryanodine-sensitive calcium-release channel activity GO:0005219 8.8 RYR3 RYR2 RYR1

Sources for Capillary Malformations, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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