CLOVE
MCID: CNG510
MIFTS: 64

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (CLOVE)

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

Aliases & Classifications for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

MalaCards integrated aliases for Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

Name: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 56 12 52 73 36 29 6 71
Cloves Syndrome 56 12 52 58 73 15
Clove Syndrome, Somatic 56 13 39
Clove Syndrome 56 52 73
Nevus 43 17 71
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/spinal Abnormalities 56 52
Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi and Skeletal/spinal Abnormalities 73
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome 58
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome 58
Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi 52
Congenital Arteriovenous Malformation 71
Arteriovenous Malformations 43
Arteriovenous Hemangioma 71
Benign Melanocytic Nevus 71
Melanocytic Nevus 71
Clove 73

Characteristics:

Orphanet epidemiological data:

58
cloves syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
somatic mosaicism

Miscellaneous:
clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi


HPO:

31
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi:
Inheritance sporadic


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0080351
OMIM 56 612918
KEGG 36 H01912
ICD10 32 Q87.3
ICD10 via Orphanet 33 Q87.3
Orphanet 58 ORPHA140944
MedGen 41 C2752042
UMLS 71 C0003857 C0027960 C0027962 more

Summaries for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

KEGG : 36 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progressive or distorting bony overgrowth. The key feature of this syndrome is a truncal lipomatous mass of variable size that is noted at birth. The fatty growths often extend from the trunk into the retroperitoneum, mediastinum, thoracic cavity, and epidural space. Deeper fast-flow and slow-flow vascular anomalies become evident early in childhood. Most acral deformities become accentuated with growth, are often symmetrical, are not rapidly progressive, and are commonly misdiagnosed as Proteus syndrome. This syndrome is caused by somatic activating mutations in PIK3CA.

MalaCards based summary : Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi, also known as cloves syndrome, is related to arteriovenous malformations of the brain and pulmonary arteriovenous malformation, and has symptoms including seizures, edema and pruritus. An important gene associated with Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are mTOR signaling pathway and PI3K-Akt signaling pathway. The drugs Dexmedetomidine and Sufentanil have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related phenotypes are hemihypertrophy and lipoma

Disease Ontology : 12 A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has material basis in somatic mosaicism for postzygotic activiating mutations in the PIK3CA gene on chromosome 3q26.

NIH Rare Diseases : 52 CLOVES syndrome is a rare condition that is primarily characterized by congenital overgrowth of fatty tissue ; malformations of the vascular system (the vessels that carry blood and lymph throughout the body); epidermal nevi ; and spinal or skeletal abnormalities. Other signs and symptoms may include disproportionate fat distribution, overgrowth of the extremities (arms and legs), skin abnormalities and kidney problems such as an unusually small or absent kidney. The severity of the condition and the associated signs and symptoms vary significantly from person to person. CLOVES syndrome is caused by somatic mutations in the PIK3CA gene . Because these mutations do not affect egg or sperm cells , the condition is not passed on from parent to child. Treatment is based on the signs and symptoms present in each person.

UniProtKB/Swiss-Prot : 73 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi: A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities. The presence of truncal overgrowth and characteristic patterned macrodactyly at birth differentiates CLOVE from other syndromic forms of overgrowth.

Wikipedia : 74 CLOVES syndrome is an extremely rare overgrowth syndrome with complex vascular anomalies. CLOVES... more...

More information from OMIM: 612918

Related Diseases for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Diseases related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1442)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformations of the brain 34.7 PECAM1 ENG ACVRL1
2 pulmonary arteriovenous malformation 34.7 ENG ACVRL1
3 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 33.7 ENG ACVRL1
4 stroke, ischemic 32.1 PIK3CA PECAM1 ENG AKT1
5 klippel-trenaunay-weber syndrome 32.1 PROS1 PIK3CA GNAQ AKT1
6 melanoma, cutaneous malignant 1 32.1 PIK3CA GNAQ AKT3 AKT1
7 megalencephaly-capillary malformation-polymicrogyria syndrome 31.8 PIK3R2 PIK3CA AKT3
8 weber syndrome 31.0 GNAQ ENG ACVRL1
9 hemimegalencephaly 30.9 PIK3CA AKT3
10 hepatopulmonary syndrome 30.6 ENG AKT1 ACVRL1
11 macrodactyly 30.5 TSC1 PIK3CA
12 megalencephaly 30.4 PIK3R2 PIK3CA AKT3
13 meningioma, familial 30.4 PIK3CA PECAM1 AKT3 AKT1
14 pulmonary hypertension, primary, 1 30.4 ENG ACVRL1
15 melanoma, uveal 30.1 PIK3CA GNAQ ENG AKT1
16 polymicrogyria 29.9 PIK3R2 PIK3CA AKT3
17 cystic lymphangioma 29.9 PIK3CA PECAM1
18 hypomelanosis of ito 29.6 GNAQ AKT3
19 tuberous sclerosis 1 29.5 TSC1 AKT3 AKT1
20 renal cell carcinoma, nonpapillary 29.4 TSC1 PIK3CA PECAM1 ENG AKT1
21 hemangioma 29.3 PECAM1 GNAQ ENG AKT1
22 thymoma 29.1 PIK3CA AKT3 AKT2 AKT1
23 tuberous sclerosis 28.8 TSC1 PIK3CG PIK3CA AKT1
24 glioblastoma multiforme 28.5 TSC1 PIK3R2 PIK3CA PECAM1 AKT3 AKT2
25 proteus syndrome 28.5 TSC1 PROS1 PIK3R2 PIK3CA GNAQ AKT3
26 cowden syndrome 1 28.4 TSC1 PIK3R2 PIK3CA AKT3 AKT2 AKT1
27 lung cancer susceptibility 3 28.2 PIK3CG PIK3CA PECAM1 AKT2 AKT1
28 cowden syndrome 27.7 TSC1 PIK3R2 PIK3CG PIK3CA AKT3 AKT2
29 endometrial cancer 27.6 PIK3R2 PIK3CG PIK3CA ENG AKT3 AKT2
30 nevus, epidermal 27.3 PROS1 PIK3R2 PIK3CG PIK3CA GNAQ AKT3
31 capillary malformation-arteriovenous malformation 1 13.0
32 arteriovenous malformation 13.0
33 capillary malformation-arteriovenous malformation 2 12.9
34 large congenital melanocytic nevus 12.8
35 melanocytic nevus syndrome, congenital 12.8
36 white sponge nevus 1 12.8
37 becker nevus syndrome 12.7
38 extracranial arteriovenous malformation 12.7
39 nevus comedonicus 12.7
40 basal cell nevus syndrome 12.7
41 blue rubber bleb nevus 12.7
42 tièche-jadassohn nevus 12.6
43 dysplastic nevus syndrome 12.6
44 mandibular arteriovenous malformation 12.6
45 facial arteriovenous malformation 12.6
46 maxillary arteriovenous malformation 12.6
47 spitz nevus 12.6
48 white sponge nevus 2 12.5
49 rare arteriovenous malformation 12.5
50 porokeratotic eccrine ostial and dermal duct nevus 12.5

Graphical network of the top 20 diseases related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:



Diseases related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

Symptoms & Phenotypes for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Human phenotypes related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hemihypertrophy 31 obligate (100%) HP:0001528
2 lipoma 31 frequent (33%) HP:0012032
3 scoliosis 31 occasional (7.5%) HP:0002650
4 renal hypoplasia/aplasia 31 occasional (7.5%) HP:0008678
5 tethered cord 31 occasional (7.5%) HP:0002144
6 lower limb asymmetry 31 occasional (7.5%) HP:0100559
7 spinal dysraphism 31 occasional (7.5%) HP:0010301
8 splenomegaly 31 HP:0001744
9 sandal gap 31 HP:0001852
10 facial asymmetry 31 HP:0000324
11 macrodactyly 31 HP:0004099
12 cranial hyperostosis 31 HP:0004437
13 overgrowth 31 HP:0001548
14 venous malformation 31 HP:0012721
15 capillary malformation 31 HP:0025104

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly
cysts in spleen

Skeletal Skull:
hyperostosis

Cardiovascular Vascular:
capillary malformation
arteriovenous malformation, progressive, with cutaneous involvement
lymphatic malformation, low flow (in most cases)
venous malformation, low flow (in most cases)
paraspinal arteriovenous malformations, high-flow (in some patients)
more
Genitourinary Kidneys:
renal agenesis (in some patients)
renal hypoplasia (in some patients)

Genitourinary Internal Genitalia Male:
testicular cysts

Skeletal Hands:
palmar overgrowth
wide hands (most cases)
windswept hand (rare)
macrodactyly (in some patients)

Muscle Soft Tissue:
lipomas or lipomatous masses (most cases)
lipohypoplasia, regional

Head And Neck Face:
facial asymmetry

Skeletal Feet:
macrodactyly
plantar overgrowth
wide feet (most cases)
furrowed sole
sandal gap, wide
more
Skeletal Spine:
vertebral anomalies
scoliosis (in some patients)
megaspondylodysplasia

Growth Other:
prenatal overgrowth
hemihypertrophy (major feature)

Skeletal Limbs:
asymmetric lower limb growth (in some patients)
chondromalacia patellae (rare)
dislocated knees (rare)

Skin Nails Hair Skin:
linear epidermal nevus (in some patients)
multiple small nevi (rare)

Neurologic Central Nervous System:
neural tube defect (in some patients)
tethered cord (rare)
spasticity/paresis (rare)

Clinical features from OMIM:

612918

UMLS symptoms related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:


seizures, edema, pruritus, macule, tremor, chest pain, back pain, angina pectoris, headache, syncope, pain, chronic pain, sciatica, exanthema, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi according to GeneCards Suite gene sharing:

26 (show top 50) (show all 74)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.84 PIK3CA
2 Decreased viability GR00055-A-2 10.84 PIK3CA
3 Decreased viability GR00173-A 10.84 PIK3R2
4 Decreased viability GR00221-A-1 10.84 AKT2 AKT3 PIK3R2 ACVRL1 AKT1 PIK3CA
5 Decreased viability GR00221-A-2 10.84 AKT3 PIK3R2 TSC1 ACVRL1 AKT1 PIK3CA
6 Decreased viability GR00221-A-3 10.84 AKT2 AKT3 TSC1 ACVRL1 AKT1 PPFIA4
7 Decreased viability GR00221-A-4 10.84 AKT2 AKT3 PIK3R2 ACVRL1 AKT1 PIK3CA
8 Decreased viability GR00249-S 10.84 PIK3R2 AKT1 PPFIA4
9 Decreased viability GR00301-A 10.84 AKT2 AKT3 PIK3R2 TSC1
10 Decreased viability GR00342-S-2 10.84 PIK3CG
11 Decreased viability GR00342-S-3 10.84 AKT2 PIK3CG
12 Decreased viability GR00402-S-2 10.84 PIK3CA PIK3CG
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.51 PECAM1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-106 10.51 AKT3
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.51 AKT2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.51 PIK3CA
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.51 TSC1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 10.51 ACVRL1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 10.51 PIK3CA
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.51 AKT1 PIK3CA
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.51 PIK3CA
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.51 ACVRL1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.51 AKT1 PIK3CA
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.51 PIK3CA
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 10.51 PECAM1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 10.51 PECAM1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.51 TSC1
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.51 TSC1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.51 PIK3CA
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.51 TSC1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-39 10.51 AKT3
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.51 AKT1 PIK3CA
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.51 PIK3CA
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.51 AKT1
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.51 PIK3CA
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.51 AKT1
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 10.51 TSC1
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.51 AKT3
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.51 PECAM1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.95 PIK3R2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.95 PIK3R2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.95 AKT2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.95 ACVRL1 PIK3R2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.95 PIK3CG
45 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.95 AKT3
46 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.95 ACVRL1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.95 ACVRL1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.95 ACVRL1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.95 AKT2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.95 AKT3

MGI Mouse Phenotypes related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ACVRL1 AKT1 AKT3 ENG GNAQ PECAM1
2 homeostasis/metabolism MP:0005376 10.18 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
3 growth/size/body region MP:0005378 10.16 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
4 hematopoietic system MP:0005397 10.09 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
5 muscle MP:0005369 10.06 ACVRL1 AKT1 AKT2 ENG GNAQ PECAM1
6 integument MP:0010771 9.97 AKT1 AKT2 ENG GNAQ PIK3CA PIK3CG
7 nervous system MP:0003631 9.81 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
8 neoplasm MP:0002006 9.73 AKT1 AKT2 AKT3 PIK3CA PIK3R2 TSC1
9 normal MP:0002873 9.5 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
10 respiratory system MP:0005388 9.17 ACVRL1 AKT1 AKT2 ENG GNAQ PECAM1

Drugs & Therapeutics for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Drugs for Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 180)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
2
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
3
Ethanol Approved Phase 4 64-17-5 702
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
7
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
8 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
9 Adrenergic alpha-Agonists Phase 4
10 Hypnotics and Sedatives Phase 4
11 Anesthetics, Intravenous Phase 4
12 Adrenergic Agonists Phase 4
13 Narcotics Phase 4
14 Anesthetics, General Phase 4
15 Analgesics, Opioid Phase 4
16 Anesthetics, Inhalation Phase 4
17 Anti-Bacterial Agents Phase 4
18 Antibiotics, Antitubercular Phase 4
19 Immunoglobulins Phase 4
20 Antibodies Phase 4
21 Antibodies, Monoclonal Phase 4
22
Petrolatum Approved, Investigational Phase 3 8009-03-8
23
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
24
Bevacizumab Approved, Investigational Phase 3 216974-75-3
25
tannic acid Approved Phase 3 1401-55-4
26
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
27
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
28
Verteporfin Approved, Investigational Phase 3 129497-78-5
29 Angiogenesis Inhibitors Phase 3
30 Mitogens Phase 3
31 Veratrum Alkaloids Phase 3
32 Adrenergic Agents Phase 2, Phase 3
33 Neurotransmitter Agents Phase 2, Phase 3
34 Antihypertensive Agents Phase 2, Phase 3
35 Adrenergic beta-Antagonists Phase 2, Phase 3
36 Adrenergic Antagonists Phase 2, Phase 3
37 Anti-Arrhythmia Agents Phase 2, Phase 3
38 Vasodilator Agents Phase 2, Phase 3
39 Photosensitizing Agents Phase 3
40 Dermatologic Agents Phase 3
41
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
42
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
43
Mannitol Approved, Investigational Phase 2 69-65-8 6251 453
44
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
45
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
46
Aminolevulinic acid Approved Phase 2 106-60-5 137
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
49
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
50
Sulindac Approved, Investigational Phase 2 38194-50-2 1548887 5352

Interventional clinical trials:

(show top 50) (show all 233)
# Name Status NCT ID Phase Drugs
1 Effect of Dexmedetomidine Combined With Sufentanil for Postoperative Intravenous Analgesia in Neurosurgery: A Randomized Controlled Study Unknown status NCT02552459 Phase 4 Sufentanil;dexmedetomidine 1;dexmedetomidine 2;dexmedetomidine 3
2 The Comparison of Picosecond 532 and 1,064 Nanometers Laser and Q-switched Nd:YAG 532 and 1,064 Nanometers Laser in the Treatment of Benign Pigmented Lesions: A Randomized Controlled Trial Unknown status NCT02800525 Phase 4
3 A Prospective, Randomized, Single-Center Study Comparing Contour SE™ Microspheres to Embosphere® Microspheres for Treating Symptomatic Uterine Fibroids With Uterine Fibroid Embolization (UFE) Completed NCT00628901 Phase 4
4 The Effect of Scalp Nerve Block on the Emergence Agitation in Children Undergoing Nevus Surgery During Sevoflurane Anesthesia Completed NCT02428283 Phase 4 Ropivacaine;Remifentanil;Sevoflurane
5 Efficacy of Rapamycin (Sirolimus) in the Treatment of Blue Rubber Bleb Nevus Syndrome, Hereditary or Sporadic Venous Malformation Recruiting NCT03767660 Phase 4 Rapamycin
6 Safety and Efficacy of Lipiodol® Ultra Fluid in Association With Surgical Glues During Vascular Embolization. A Phase IV Study. Recruiting NCT02625389 Phase 4 Lipiodol® Ultra Fluid with surgical glues
7 An Open Label Trial to Assess the Safety and Efficacy of KRN23, an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome (ENS) and Associated Hypophosphatemic Rickets Not yet recruiting NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
8 CLP 7463: Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Withdrawn NCT02079818 Phase 4
9 Blood Oxygen Level Dependent fMRI Navigation for Function Protection in Intracranial Arteriovenous Malformation Surgery: a Multicenter Prospective Randomized Controlled Single Blind Clinical Trial Unknown status NCT01758211 Phase 3
10 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
11 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 Phase 3
12 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
13 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Completed NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
14 Identifying Determinants and Optimizing Rehabilitation of Physical Activity for Children After the Fontan Procedure Completed NCT00363363 Phase 3
15 An Open Label Trial to Assess the Safety and Efficacy of Burosumab (KRN23), an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome(ENS) and Associated Hypophosphatemic Rickets Completed NCT03581591 Phase 3
16 Feasibility Study of Phase-contrast MRI for Flow in the External Carotid Branches Arteries in Normal and Pathological Cases Recruiting NCT02829190 Phase 3
17 A Multicenter, Randomized, Double-blind, Vehicle-controlled, Phase 3 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome Active, not recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
18 A Phase 3, Multicenter, Open-Label Extension Study of Patidegib Topical Gel, 2% in Subjects With Gorlin Syndrome (Basal Cell Nevus Syndrome) Not yet recruiting NCT04308395 Phase 3 Patidegib Topical Gel, 2%
19 Melablock: A Multicentre Randomized, Double---blinded and Placebo---controlled Clinical Trial on the Efficacy and Safety of Once Daily Propranolol 80 mg Retard for the Prevention of Cutaneous Malignant Melanoma Recurrence Not yet recruiting NCT02962947 Phase 2, Phase 3 Propranolol;Placebo
20 A Randomized, Placebo-Controlled, Masked, Multicenter Phase III Study Of Photodynamic Therapy With Verteporfin For Injection (VFI) For The Treatment Of Multiple Basal Cell Carcinoma Terminated NCT00049959 Phase 3 verteporfin PDT
21 A Randomized, Double-blind, Vehicle-controlled, Multicenter Trial of Topically Administered LDE225 Cream (0.75% Bid) to Evaluate Clearance of Basal Cell Carcinoma in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
22 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2 bevacuzimab spray
23 An Uncontrolled, Pilot-study Assessing the Efficacy of Octreotide Long-acting Release to Decrease Transfusion Requirements and Endoscopy Frequency in Patients With Rendu-Osler-Weber and Gastrointestinal Bleeding Unknown status NCT02874326 Phase 2 Octreotide LAR
24 A Double Blind, Placebo Controlled Randomised Trial to Investigate the Scar Improvement Efficacy of a Single Intradermal Application of RN1001 (Avotermin) in Subjects Undergoing Excision of Benign Head and Neck Naevi. Unknown status NCT00656227 Phase 2 Avotermin
25 Low-dose Intra-arterial Bevacizumab for Edema and Radiation Necrosis Therapeutic Intervention (LIBERTI) Unknown status NCT02819479 Phase 2 25% Mannitol;Low-dose Intra-arterial Bevacizumab
26 Preemptive Treatment With XONRID a Medical Device to Reduce Radiation Induced Dermatitis in Head and Neck Cancer Patients Receiving Curative Treatment Unknown status NCT02261181 Phase 2
27 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
28 U.S. Multicenter, Randomized Controlled Study Comparing the Performance fo Onyx(EVOH) and TRUFILL® (n-BCA)in Presurgical Embolization of Brain Arteriovenous Malformations (BAVMs) Completed NCT00857662 Phase 2
29 Ablative Fractional Laser Therapy as Treatment for Becker's Nevus; a Pilot Study Completed NCT01083498 Phase 2
30 A Phase II Randomized, Double-Blind, Placebo-Controlled Clinical Trial of Celecoxib in Subjects With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
31 A Phase II Single Arm Open-Label Clinical Trial of Chemotherapy of BCC's With Tazarotene 0.1% in Subjects With Basal Cell Nevus Syndrome Completed NCT00489086 Phase 2 tazarotene
32 A Randomized, Phase II Multicenter Trial Evaluating the Efficacy and Safety of a Systemic Hedgehog Pathway Antagonist (GDC-0449) in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
33 A Phase II Double-Blind Study of Topical Tretinoin With or Without Oral 4-HPR (Fenretinide) in Patients With the Dysplastic Nevus Syndrome Completed NCT00003601 Phase 2 fenretinide;tretinoin
34 A Phase II, Double-blind, Randomized, Proof-of-Concept, Dose-ranging Trial Evaluating the Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Completed NCT01350115 Phase 2 LDE225;Placebo
35 A Phase II Randomized, Double-Blind, Vehicle-Controlled, Crossover Clinical Trial of Tazarotene 0.1% and Vehicle Cream Each Applied Once-Daily for 12 or 24 Months in Subjects With Basal Cell Nevus Syndrome Completed NCT00783965 Phase 2 tazarotene
36 Double-Blind, Randomized, Vehicle-Controlled Proof of Concept Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT02762084 Phase 2 Patidegib;Vehicle gel
37 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
38 A Double-blind, Randomized, Vehicle-controlled Proof of Concept (PoC) Study to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Topical Administrations of LDE225 (a Specific Smoothened Inhibitor) on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Followed by an Open Label, Randomized Expansion Group to Test Two Different Strengths of an Improved LDE225 Formulation for Extended Treatment Durations Completed NCT00961896 Phase 2 Vehicle;LDE225 0.25%;LDE225 0.75%
39 A Randomized, Double-blinded, Regimen-controlled, Phase II, Multicenter Study to Assess the Efficacy and Safety of Two Different Vismodegib Regimens in Patients With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
40 A Phase II Randomized, Open Label Trial Comparing the Effects of Intermittent Vismodegib Versus PDT on the Maintenance of Benefit Following 7 Months of Continuous Vismodegib Treatment in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
41 A Phase 1/2a Study of the Efficacy and Safety of ASN-002 Alone or in Combination With 5-FU in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Completed NCT02550678 Phase 1, Phase 2 5-FU
42 Phase II Trial of Sulindac in Individuals at Increased Risk for Melanoma Completed NCT00841204 Phase 2 sulindac
43 Single Blind, Controlled, Single-Center Study of Laser Treatment in Cutaneous Lupus Erythematosus Completed NCT00523588 Phase 2
44 Double-Blind, Dose Escalating, Randomized, Vehicle-Controlled Proof of Concept Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the GLI1 Biomarker in Sporadic Nodular Basal Cell Carcinomas Completed NCT02828111 Phase 2 Patidegib;Vehicle gel
45 Prospective Evaluation of the Efficacy of Sirolimus (Rapamune®) in the Treatment of Severe Arteriovenous Malformations Recruiting NCT02042326 Phase 2 Sirolimus
46 Proton Radiotherapy for Primary Central Nervous System Tumours in Adults - a Prospective Swedish Multicentre Study Recruiting NCT02797366 Phase 2
47 A Safety and Efficacy Trial of Circumferential Anal Canal Radiofrequency Ablation for High-Grade Anal Intraepithelial Neoplasia Using the BARRX™ Anorectal Wand Recruiting NCT03302858 Phase 2
48 Vitamin D Supplementation and Reduction of Severity and Frequency of Epistaxis in Hereditary Haemorrhagic Telangiectasia Recruiting NCT03981562 Phase 2 Vit D;Placebo Oral Tablet
49 A Multicenter, Randomized, Double Blind, Vehicle-controlled, Phase 2 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Patients With Non-Gorlin High Frequency BCC Recruiting NCT04155190 Phase 2 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
50 Pilot Studies Assessing the Metabolomic and Inflammatory Effects of Oral Aspirin (ASA) in Human Subjects at Risk for Melanoma Recruiting NCT04062032 Phase 2 Aspirin 81 mg;Aspirin 325mg

Search NIH Clinical Center for Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

Cochrane evidence based reviews: arteriovenous malformations

Genetic Tests for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Genetic tests related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

# Genetic test Affiliating Genes
1 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 29 PIK3CA

Anatomical Context for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

MalaCards organs/tissues related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

40
Skin, Brain, Kidney, Heart, Testes, Endothelial, Bone

Publications for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Articles related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 6 56 61
22658544 2012
2
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 6 56
22729222 2012
3
Targeted therapy in patients with PIK3CA-related overgrowth syndrome. 56 61
29899452 2018
4
PIK3CA-Related Segmental Overgrowth 61 6
23946963 2013
5
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 61 6
23100325 2013
6
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. 61 56
19011570 2009
7
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. 61 56
18816642 2008
8
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. 61 56
17963221 2007
9
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. 6
29446767 2018
10
PIK3CA(H1047R) induces multipotency and multi-lineage mammary tumours. 6
26266975 2015
11
Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity. 6
26266985 2015
12
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 6
17673550 2007
13
Giant fetal axillo-thoracic cystic hygroma associated with ipsilateral foot anomalies. 56
17168988 2006
14
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 6
15608678 2005
15
Mutation of the PIK3CA gene in ovarian and breast cancer. 6
15520168 2004
16
Radiologic manifestations of Proteus syndrome. 56
15256628 2004
17
High frequency of mutations of the PIK3CA gene in human cancers. 6
15016963 2004
18
Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia. 56
9781913 1998
19
Neonatal proteus syndrome. 56
8213925 1993
20
Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. 56
1621755 1992
21
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. 61
32066498 2020
22
Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome. 61
31330249 2019
23
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome. 61
31490637 2019
24
Vascular malformations syndromes: an update. 61
31693582 2019
25
CLOVES syndrome: Treatment with oral Rapamycin. Report of two cases. 61
32186590 2019
26
CLOVES Syndrome in a Nine-month-old Infant. 61
31723531 2019
27
Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype? 61
31334068 2019
28
Vascular malformations syndromes: an update. 61
31361678 2019
29
A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis. 61
31263565 2019
30
Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome. 61
29882992 2018
31
[New nosological and therapeutic perspectives in syndromic vascular malformations with a vein-lymphatic component]. 61
29627129 2018
32
Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome. 61
29909856 2018
33
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report. 61
29493003 2018
34
Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. 61
29231959 2018
35
Sonographic screening for Wilms tumor in children with CLOVES syndrome. 61
28627003 2017
36
Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel. 61
28502725 2017
37
Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications. 61
28032156 2017
38
[PIK3CA-related overgrowth syndrome (PROS)]. 61
28577738 2017
39
CLOVES Syndrome: Severe Neonatal Presentation. 61
28571234 2017
40
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 61
27426476 2017
41
Nodular Proliferation in Parkes Weber Syndrome. 61
27575310 2017
42
Combined endovascular and microsurgical treatment of a complex spinal arteriovenous fistula associated with CLOVES syndrome in an adult patient. 61
27729180 2016
43
An Extremely Rare Disorder of Somatic Mosaicism: CLOVES Syndrome. 61
27611016 2016
44
What is your diagnosis? 61
27438212 2016
45
Surgical Treatment of Spinal Deformity in Patients With CLOVES Syndrome: A Report of 4 Cases. 61
25393573 2015
46
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. 61
25557259 2015
47
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors. 61
25915946 2015
48
A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome. 61
25709171 2015
49
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. 61
25044986 2014
50
[CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome]. 61
25209813 2014

Variations for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

ClinVar genetic disease variations for Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297
2 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)SNV Pathogenic 13653 rs121913279 3:178952085-178952085 3:179234297-179234297
3 PIK3CA NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)SNV Pathogenic 31945 rs121913272 3:178927980-178927980 3:179210192-179210192
4 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296
5 PIK3CA NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)SNV Pathogenic/Likely pathogenic 31944 rs121913273 3:178936082-178936082 3:179218294-179218294
6 PIK3CA NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)SNV Uncertain significance 403909 rs113613074 3:178922361-178922361 3:179204573-179204573
7 PIK3CA NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)SNV Uncertain significance 526641 rs755969956 3:178917561-178917561 3:179199773-179199773

Expression for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Search GEO for disease gene expression data for Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi.

Pathways for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Pathways related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi according to KEGG:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150
2 PI3K-Akt signaling pathway hsa04151

Pathways related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi according to GeneCards Suite gene sharing:

(show top 50) (show all 150)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 TSC1 PIK3R2 PIK3CG AKT3 AKT2 AKT1
2
Show member pathways
13.41 PROS1 PIK3R2 PIK3CG PIK3CA PECAM1 GNAQ
3
Show member pathways
13.35 TSC1 PIK3R2 PIK3CA AKT3 AKT2 AKT1
4
Show member pathways
13.27 PIK3R2 PIK3CG GNAQ AKT3 AKT2 AKT1
5
Show member pathways
13.24 PIK3R2 PIK3CA GNAQ AKT3 AKT2 AKT1
6
Show member pathways
13.18 PIK3R2 PIK3CG PIK3CA GNAQ AKT3 AKT2
7
Show member pathways
13.15 PIK3R2 PIK3CA GNAQ AKT3 AKT2 AKT1
8
Show member pathways
13.12 TSC1 PIK3R2 PIK3CG PIK3CA AKT3 AKT2
9
Show member pathways
13.05 PIK3R2 PIK3CG AKT3 AKT2 AKT1
10
Show member pathways
13.03 TSC1 PIK3R2 PIK3CG PIK3CA GNAQ AKT3
11
Show member pathways
13.02 TSC1 PIK3R2 PIK3CA AKT3 AKT2 AKT1
12
Show member pathways
13.02 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
13
Show member pathways
13 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
14 12.97 PIK3R2 PIK3CA GNAQ AKT3 AKT2 AKT1
15
Show member pathways
12.95 PIK3R2 PIK3CA AKT3 AKT2 AKT1
16
Show member pathways
12.94 PIK3R2 PIK3CA AKT3 AKT2 AKT1
17
Show member pathways
12.94 PIK3R2 PIK3CG PIK3CA GNAQ AKT3 AKT2
18 12.93 TSC1 PIK3R2 PIK3CA AKT3 AKT2 AKT1
19
Show member pathways
12.91 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
20
Show member pathways
12.9 PIK3R2 PIK3CA AKT3 AKT2 AKT1
21
Show member pathways
12.9 PIK3R2 PIK3CG PIK3CA GNAQ AKT3 AKT2
22
Show member pathways
12.87 PIK3R2 PIK3CA GNAQ AKT3 AKT2 AKT1
23
Show member pathways
12.86 PIK3R2 PIK3CA AKT3 AKT2 AKT1
24
Show member pathways
12.83 PIK3R2 PIK3CA AKT3 AKT2 AKT1
25
Show member pathways
12.82 PIK3R2 PIK3CA AKT3 AKT2 AKT1
26
Show member pathways
12.81 PIK3R2 PIK3CA AKT3 AKT2 AKT1
27
Show member pathways
12.81 PIK3R2 PIK3CA GNAQ AKT3 AKT2 AKT1
28
Show member pathways
12.79 PIK3R2 PIK3CA GNAQ AKT3 AKT2 AKT1
29
Show member pathways
12.78 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
30
Show member pathways
12.78 TSC1 PIK3R2 PIK3CG PIK3CA AKT3 AKT2
31
Show member pathways
12.77 PIK3R2 PIK3CG PIK3CA PECAM1 AKT3 AKT2
32
Show member pathways
12.76 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
33
Show member pathways
12.72 PIK3R2 PIK3CA AKT3 AKT2 AKT1
34
Show member pathways
12.71 PIK3R2 AKT3 AKT2 AKT1
35
Show member pathways
12.71 PIK3R2 PIK3CA AKT3 AKT2 AKT1
36
Show member pathways
12.71 PIK3R2 PIK3CA AKT3 AKT2 AKT1
37
Show member pathways
12.69 PIK3R2 PIK3CA AKT3 AKT2 AKT1
38
Show member pathways
12.68 PIK3R2 PIK3CG AKT3 AKT2 AKT1
39
Show member pathways
12.67 PIK3CG GNAQ AKT3 AKT2 AKT1
40
Show member pathways
12.67 TSC1 PIK3R2 PIK3CG PIK3CA AKT2 AKT1
41
Show member pathways
12.64 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
42
Show member pathways
12.63 PIK3CG PIK3CA AKT3 AKT2 AKT1
43
Show member pathways
12.6 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
44
Show member pathways
12.6 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
45
Show member pathways
12.59 PIK3R2 PIK3CG PIK3CA AKT3 AKT2 AKT1
46
Show member pathways
12.58 TSC1 PIK3R2 PIK3CG PIK3CA AKT3 AKT2
47
Show member pathways
12.56 TSC1 PIK3R2 PIK3CA AKT2 AKT1
48
Show member pathways
12.56 TSC1 PIK3R2 PIK3CG PIK3CA AKT3 AKT2
49
Show member pathways
12.55 PIK3R2 AKT3 AKT2 AKT1
50
Show member pathways
12.55 PIK3R2 PIK3CA AKT3 AKT2 AKT1

GO Terms for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Cellular components related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10 TSC1 PROS1 PIK3CG PIK3CA PECAM1 PCDHGB7
2 phosphatidylinositol 3-kinase complex, class IB GO:0005944 9.16 PIK3CG PIK3CA
3 phosphatidylinositol 3-kinase complex, class IA GO:0005943 8.96 PIK3CG PIK3CA
4 phosphatidylinositol 3-kinase complex GO:0005942 8.8 PIK3R2 PIK3CG PIK3CA

Biological processes related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.2 PIK3R2 PECAM1 GNAQ AKT3 AKT2 AKT1
2 phosphorylation GO:0016310 9.85 PIK3CG PIK3CA AKT3 AKT2 AKT1 ACVRL1
3 platelet activation GO:0030168 9.82 PIK3CG PIK3CA GNAQ
4 cellular response to insulin stimulus GO:0032869 9.8 PIK3R2 AKT2 AKT1
5 regulation of cell migration GO:0030334 9.8 PECAM1 AKT2 AKT1
6 insulin receptor signaling pathway GO:0008286 9.78 PIK3R2 AKT2 AKT1
7 leukocyte migration GO:0050900 9.78 PROS1 PIK3R2 PIK3CA PECAM1
8 positive regulation of protein phosphorylation GO:0001934 9.76 PECAM1 ENG AKT2 AKT1
9 phosphatidylinositol biosynthetic process GO:0006661 9.75 PIK3R2 PIK3CG PIK3CA
10 positive regulation of protein kinase B signaling GO:0051897 9.73 PIK3R2 PIK3CG PIK3CA ENG
11 protein phosphorylation GO:0006468 9.73 PIK3CG PIK3CA AKT3 AKT2 AKT1 ACVRL1
12 positive regulation of endothelial cell proliferation GO:0001938 9.72 AKT3 AKT1 ACVRL1
13 glucose metabolic process GO:0006006 9.71 PIK3CA AKT2 AKT1
14 phosphatidylinositol phosphorylation GO:0046854 9.69 PIK3R2 PIK3CG PIK3CA
15 phosphatidylinositol-mediated signaling GO:0048015 9.67 PIK3R2 PIK3CG PIK3CA
16 glycogen biosynthetic process GO:0005978 9.65 AKT2 AKT1
17 endocardial cushion morphogenesis GO:0003203 9.65 ENG ACVRL1
18 positive regulation of glycogen biosynthetic process GO:0045725 9.65 AKT2 AKT1
19 mammary gland epithelial cell differentiation GO:0060644 9.64 AKT2 AKT1
20 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.63 PIK3CG PIK3CA
21 positive regulation of mitochondrial membrane potential GO:0010918 9.62 AKT2 AKT1
22 anoikis GO:0043276 9.61 PIK3CA AKT1
23 negative regulation of cell size GO:0045792 9.6 TSC1 AKT1
24 positive regulation of glucose metabolic process GO:0010907 9.59 AKT2 AKT1
25 negative regulation of fibroblast apoptotic process GO:2000270 9.58 PIK3CG PIK3CA
26 dorsal aorta morphogenesis GO:0035912 9.57 ENG ACVRL1
27 peripheral nervous system myelin maintenance GO:0032287 9.56 AKT2 AKT1
28 angiogenesis GO:0001525 9.55 PIK3CG PIK3CA PECAM1 ENG ACVRL1
29 neutrophil extravasation GO:0072672 9.52 PIK3CG PECAM1
30 negative regulation of plasma membrane long-chain fatty acid transport GO:0010748 9.4 AKT2 AKT1
31 endocardial cushion to mesenchymal transition GO:0090500 9.32 ENG ACVRL1
32 negative regulation of macroautophagy GO:0016242 9.13 TSC1 PIK3CA AKT1
33 phosphatidylinositol 3-kinase signaling GO:0014065 8.92 PIK3R2 PIK3CG PIK3CA AKT1

Molecular functions related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.05 PIK3CG PIK3CA GNAQ AKT3 AKT2 AKT1
2 protein kinase activity GO:0004672 9.8 PIK3CG AKT3 AKT2 AKT1 ACVRL1
3 activin binding GO:0048185 9.52 ENG ACVRL1
4 GTPase activating protein binding GO:0032794 9.49 TSC1 AKT1
5 phosphatidylinositol kinase activity GO:0052742 9.48 PIK3CG PIK3CA
6 1-phosphatidylinositol-3-kinase activity GO:0016303 9.46 PIK3CG PIK3CA
7 transforming growth factor beta-activated receptor activity GO:0005024 9.43 ENG ACVRL1
8 kinase activity GO:0016301 9.43 PIK3CG PIK3CA AKT3 AKT2 AKT1 ACVRL1
9 1-phosphatidylinositol-4-phosphate 3-kinase activity GO:0035005 9.37 PIK3CG PIK3CA
10 phosphatidylinositol 3-kinase activity GO:0035004 9.32 PIK3CG PIK3CA
11 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 PIK3CG PIK3CA
12 phosphatidylinositol-3,4-bisphosphate 5-kinase activity GO:0052812 9.16 PIK3CG PIK3CA
13 protein serine/threonine kinase activity GO:0004674 9.1 PIK3CG PIK3CA AKT3 AKT2 AKT1 ACVRL1

Sources for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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