CLOVE
MCID: CNG510
MIFTS: 65

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 57 12 53 74 37 29 6 72
Cloves Syndrome 57 12 53 59 74 15
Clove Syndrome, Somatic 57 13 40
Clove Syndrome 57 53 74
Nevus 44 17 72
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/spinal Abnormalities 57 53
Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi and Skeletal/spinal Abnormalities 74
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome 59
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome 59
Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi 53
Congenital Arteriovenous Malformation 72
Arteriovenous Malformations 44
Arteriovenous Hemangioma 72
Benign Melanocytic Nevus 72
Melanocytic Nevus 72
Clove 74

Characteristics:

Orphanet epidemiological data:

59
cloves syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
somatic mosaic

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


HPO:

32
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0080351
OMIM 57 612918
KEGG 37 H01912
ICD10 33 Q87.3
ICD10 via Orphanet 34 Q87.3
Orphanet 59 ORPHA140944
MedGen 42 C2752042
UMLS 72 C0003857 C0027960 C0027962 more

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

KEGG : 37
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 pulmonary arteriovenous malformation and arteriovenous malformations of the brain, and has symptoms including seizures, tremor and angina pectoris. 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 : 53 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 : 74 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 : 75 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 1429)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 34.9 ENG ACVRL1
2 arteriovenous malformations of the brain 34.9 RASA1 ENG ACVRL1
3 arteriovenous malformation 34.9 RASA1 ENG ACVRL1
4 hereditary hemorrhagic telangiectasia 33.4 SMAD4 ENG ACVRL1
5 cutis marmorata telangiectatica congenita 32.9 PIK3R2 PIK3CA
6 megalencephaly-capillary malformation-polymicrogyria syndrome 32.6 PIK3R2 PIK3CA
7 venous malformations, multiple cutaneous and mucosal 32.4 SMAD4 RASA1 ACVRL1
8 weber syndrome 31.3 RASA1 ENG ACVRL1
9 telangiectasis 30.9 TGFBR1 SMAD4 ENG ACVRL1
10 proteus syndrome 30.7 RASA1 PIK3R2 PIK3CA AKT1
11 angiodysplasia 30.5 ENG ACVRL1
12 hidradenoma 30.1 PIK3CA AKT1
13 breast adenocarcinoma 30.0 SMAD4 PIK3CA AKT1
14 tuberous sclerosis 29.8 PIK3CA NF1 AKT1
15 glioblastoma 29.7 PIK3CG PIK3CA NF1 AKT1
16 angiokeratoma circumscriptum 29.7 SLC2A1 RASA1
17 capillary hemangioma 29.6 SLC2A1 RASA1 PECAM1
18 skin hemangioma 29.5 SLC2A1 RASA1
19 lung cancer susceptibility 3 28.9 TGFBR1 SMAD4 PIK3CA AKT1
20 capillary malformation-arteriovenous malformation 1 13.0
21 capillary malformation-arteriovenous malformation 2 12.8
22 giant congenital nevus 12.8
23 melanocytic nevus syndrome, congenital 12.8
24 white sponge nevus 1 12.7
25 becker nevus syndrome 12.7
26 extracranial arteriovenous malformation 12.7
27 nevus comedonicus 12.7
28 blue rubber bleb nevus 12.6
29 basal cell nevus syndrome 12.6
30 tièche-jadassohn nevus 12.6
31 dysplastic nevus syndrome 12.6
32 mandibular arteriovenous malformation 12.6
33 facial arteriovenous malformation 12.6
34 maxillary arteriovenous malformation 12.6
35 spitz nevus 12.5
36 white sponge nevus 2 12.5
37 rare arteriovenous malformation 12.5
38 porokeratotic eccrine ostial and dermal duct nevus 12.5
39 schimmelpenning-feuerstein-mims syndrome 12.5
40 nevus anemicus 12.4
41 melanoma in congenital melanocytic nevus 12.4
42 frontonasal arteriovenous malformation 12.4
43 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.4
44 epidermolytic nevus 12.3
45 conjunctival nevus 12.3
46 nevus flammeus of nape of neck 12.2
47 congenital panfollicular nevus 12.2
48 angora hair nevus 12.2
49 rare nevus 12.2
50 nevus mucinosis 12.2

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:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hemihypertrophy 32 obligate (100%) HP:0001528
2 lipoma 32 frequent (33%) HP:0012032
3 scoliosis 32 occasional (7.5%) HP:0002650
4 renal hypoplasia/aplasia 32 occasional (7.5%) HP:0008678
5 tethered cord 32 occasional (7.5%) HP:0002144
6 lower limb asymmetry 32 occasional (7.5%) HP:0100559
7 spinal dysraphism 32 occasional (7.5%) HP:0010301
8 splenomegaly 32 HP:0001744
9 facial asymmetry 32 HP:0000324
10 sandal gap 32 HP:0001852
11 overgrowth 32 HP:0001548
12 macrodactyly 32 HP:0004099
13 venous malformation 32 HP:0012721
14 cranial hyperostosis 32 HP:0004437
15 capillary malformation 32 HP:0025104

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly
cysts in spleen

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

Genitourinary Internal Genitalia Male:
testicular cysts

Skeletal Skull:
hyperostosis of the skull

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

Cardiovascular Vascular:
capillary malformation
vascular (arteriovenous) malformation, progressive, with cutaneous involvement
lymphatic malformation (low flow) (most cases)
venous malformation (low flow) (most cases)
perispinal vascular malformations, high-flow (in some patients)
more
Growth Other:
prenatal overgrowth
hemihypertrophy (major feature)

Genitourinary Kidneys:
renal agenesis/hypoplasia (in some patients)

Skeletal Limbs:
leg length discrepancy (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, tremor, angina pectoris, edema, pruritus, macule, chest pain, back pain, pain, headache, syncope, 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 all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.34 PIK3CA
2 Decreased viability GR00173-A 10.34 PIK3R2
3 Decreased viability GR00221-A-1 10.34 ACVRL1 AKT1 NF1 PIK3CA PIK3CG PIK3R2
4 Decreased viability GR00221-A-2 10.34 ACVRL1 AKT1 NF1 PIK3CA PIK3CG PIK3R2
5 Decreased viability GR00221-A-3 10.34 ACVRL1 AKT1 RASA1
6 Decreased viability GR00221-A-4 10.34 ACVRL1 AKT1 NF1 PIK3CA PIK3CG PIK3R2
7 Decreased viability GR00301-A 10.34 PIK3R2
8 Decreased viability GR00342-S-2 10.34 PIK3CG
9 Decreased viability GR00342-S-3 10.34 PIK3CG
10 Decreased viability GR00381-A-1 10.34 RASA1
11 Decreased viability GR00402-S-2 10.34 ACVRL1 AKT1 NF1 PIK3CA PIK3CG PIK3R2
12 Decreased cell migration GR00055-A-1 9.55 ACVRL1 AKT1 NF1 PIK3CA PIK3R2
13 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 SMAD4

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

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.33 ACVRL1 AKT1 ENG NF1 PECAM1 PIK3CA
2 cellular MP:0005384 10.24 ABCC5 AKT1 NF1 PECAM1 PIK3CA PIK3CG
3 growth/size/body region MP:0005378 10.24 ACVRL1 AKT1 ENG NF1 PIK3CA PIK3CG
4 homeostasis/metabolism MP:0005376 10.23 ACVRL1 AKT1 ENG NF1 PECAM1 PIK3CA
5 embryo MP:0005380 10.21 ACVRL1 AKT1 ENG NF1 PIK3CA PROS1
6 hematopoietic system MP:0005397 10.13 ACVRL1 AKT1 ENG NF1 PECAM1 PIK3CG
7 mortality/aging MP:0010768 10.11 ACVRL1 AKT1 ENG NF1 PIK3CA PIK3CG
8 muscle MP:0005369 10.1 ACVRL1 AKT1 ENG NF1 PECAM1 PIK3CA
9 digestive/alimentary MP:0005381 10.07 ACVRL1 ENG NF1 PECAM1 RASA1 SMAD4
10 integument MP:0010771 10.03 AKT1 ENG NF1 PIK3CA PIK3CG PROS1
11 liver/biliary system MP:0005370 9.88 ACVRL1 AKT1 NF1 PECAM1 PROS1 SMAD4
12 nervous system MP:0003631 9.85 ACVRL1 AKT1 ENG NF1 PIK3CA PROS1
13 neoplasm MP:0002006 9.73 AKT1 NF1 PIK3CA PIK3R2 SMAD4 TGFBR1
14 normal MP:0002873 9.5 ACVRL1 AKT1 ENG NF1 PROS1 SMAD4
15 skeleton MP:0005390 9.23 AKT1 NF1 PECAM1 PIK3CA PIK3CG RASA1

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 197)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
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
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
7
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
8
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
9 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
10 Adrenergic alpha-2 Receptor Agonists Phase 4
11 Hypnotics and Sedatives Phase 4
12 Adjuvants, Anesthesia Phase 4
13 Anesthetics, Intravenous Phase 4
14 Narcotics Phase 4
15 Anesthetics, General Phase 4
16 Analgesics, Opioid Phase 4
17 Anesthetics, Inhalation Phase 4
18
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
19
Petrolatum Approved, Investigational Phase 3 8009-03-8
20
tannic acid Approved Phase 3 1401-55-4
21
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
22
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
23
Verteporfin Approved, Investigational Phase 3 129497-78-5
24 Veratrum Alkaloids Phase 3
25 Mitogens Phase 3
26 Neurotransmitter Agents Phase 2, Phase 3
27 Adrenergic Agents Phase 2, Phase 3
28 Antihypertensive Agents Phase 2, Phase 3
29 Adrenergic beta-Antagonists Phase 2, Phase 3
30 Adrenergic Antagonists Phase 2, Phase 3
31 Anti-Arrhythmia Agents Phase 2, Phase 3
32 Vasodilator Agents Phase 2, Phase 3
33 Dermatologic Agents Phase 3
34 Photosensitizing Agents Phase 3
35
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
36
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
37
Aminolevulinic acid Approved Phase 2 106-60-5 137
38
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
39
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
40
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
41
Sulindac Approved, Investigational Phase 2 38194-50-2 5352 1548887
42
Norflurane Approved, Experimental Phase 2 811-97-2
43
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
44
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
45
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
46
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
47
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Bevacizumab Approved, Investigational Phase 2 216974-75-3
50
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283

Interventional clinical trials:

(show top 50) (show all 209)
# 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 CLP 7463: Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Withdrawn NCT02079818 Phase 4
8 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
9 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
10 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 Phase 3
11 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
12 Identifying Determinants and Optimizing Rehabilitation of Physical Activity for Children After the Fontan Procedure Completed NCT00363363 Phase 3
13 Feasibility Study of Phase-contrast MRI for Flow in the External Carotid Branches Arteries in Normal and Pathological Cases Recruiting NCT02829190 Phase 3
14 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
15 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 Recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
16 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 Active, not recruiting NCT03581591 Phase 3
17 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
18 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
19 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
20 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
21 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
22 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
23 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
24 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
25 Ablative Fractional Laser Therapy as Treatment for Becker's Nevus; a Pilot Study Completed NCT01083498 Phase 2
26 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
27 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
28 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
29 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
30 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
31 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
32 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
33 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%
34 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
35 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
36 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
37 Phase II Trial of Sulindac in Individuals at Increased Risk for Melanoma Completed NCT00841204 Phase 2 sulindac
38 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
39 Single Blind, Controlled, Single-Center Study of Laser Treatment in Cutaneous Lupus Erythematosus Completed NCT00523588 Phase 2
40 Prospective Evaluation of the Efficacy of Sirolimus (Rapamune®) in the Treatment of Severe Arteriovenous Malformations Recruiting NCT02042326 Phase 2 Sirolimus
41 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations (TATAM): A Randomized Controlled Trial and Registry Recruiting NCT03691870 Phase 2
42 Proton Radiotherapy for Primary Central Nervous System Tumours in Adults - a Prospective Swedish Multicentre Study Recruiting NCT02797366 Phase 2
43 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
44 Vitamin D Supplementation and Reduction of Severity and Frequency of Epistaxis in Hereditary Haemorrhagic Telangiectasia Recruiting NCT03981562 Phase 2 Vit D;Placebo Oral Tablet
45 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
46 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Patients With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
47 Phase IIb Open-label Trial of SUBA™-Itraconazole in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Active, not recruiting NCT02354261 Phase 2 SUBA-Itraconazole
48 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23, an Antibody to FGF23, in Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)-Associated Osteomalacia Active, not recruiting NCT02304367 Phase 2
49 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 Active, not recruiting NCT02874326 Phase 2 Octreotide LAR
50 Low-dose Intra-arterial Bevacizumab for Edema and Radiation Necrosis Therapeutic Intervention (LIBERTI) Active, not recruiting NCT02819479 Phase 2 25% Mannitol;Low-dose Intra-arterial Bevacizumab

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:

41
Skin, Brain, Kidney, Heart, Endothelial, Testes, 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 87)
# Title Authors PMID Year
1
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 38 8 71
22658544 2012
2
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 8 71
22729222 2012
3
Targeted therapy in patients with PIK3CA-related overgrowth syndrome. 38 8
29899452 2018
4
PIK3CA-Related Segmental Overgrowth 38 71
23946963 2013
5
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 38 71
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. 38 8
19011570 2009
7
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. 38 8
18816642 2008
8
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. 38 8
17963221 2007
9
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. 71
29446767 2018
10
PIK3CA(H1047R) induces multipotency and multi-lineage mammary tumours. 71
26266975 2015
11
Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity. 71
26266985 2015
12
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 71
17673550 2007
13
Giant fetal axillo-thoracic cystic hygroma associated with ipsilateral foot anomalies. 8
17168988 2006
14
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 71
15608678 2005
15
Mutation of the PIK3CA gene in ovarian and breast cancer. 71
15520168 2004
16
Radiologic manifestations of Proteus syndrome. 8
15256628 2004
17
High frequency of mutations of the PIK3CA gene in human cancers. 71
15016963 2004
18
Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia. 8
9781913 1998
19
Neonatal proteus syndrome. 8
8213925 1993
20
Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. 8
1621755 1992
21
Vascular malformations syndromes: an update. 38
31361678 2019
22
Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype? 38
31334068 2019
23
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. 38
31330249 2019
24
A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis. 38
31263565 2019
25
[New nosological and therapeutic perspectives in syndromic vascular malformations with a vein-lymphatic component]. 38
29627129 2018
26
Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome. 38
29882992 2018
27
Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome. 38
29909856 2018
28
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report. 38
29493003 2018
29
Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. 38
29231959 2018
30
Sonographic screening for Wilms tumor in children with CLOVES syndrome. 38
28627003 2017
31
Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel. 38
28502725 2017
32
Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications. 38
28032156 2017
33
CLOVES Syndrome: Severe Neonatal Presentation. 38
28571234 2017
34
[PIK3CA-related overgrowth syndrome (PROS)]. 38
28577738 2017
35
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 38
27426476 2017
36
Nodular Proliferation in Parkes Weber Syndrome. 38
27575310 2017
37
Combined endovascular and microsurgical treatment of a complex spinal arteriovenous fistula associated with CLOVES syndrome in an adult patient. 38
27729180 2016
38
An Extremely Rare Disorder of Somatic Mosaicism: CLOVES Syndrome. 38
27611016 2016
39
What is your diagnosis? 38
27438212 2016
40
Surgical Treatment of Spinal Deformity in Patients With CLOVES Syndrome: A Report of 4 Cases. 38
25393573 2015
41
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. 38
25557259 2015
42
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. 38
25915946 2015
43
A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome. 38
25709171 2015
44
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. 38
25044986 2014
45
[CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome]. 38
25209813 2014
46
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. 38
24782230 2014
47
Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing. 38
24665065 2014
48
Cloves syndrome: a case report and perinatal diagnostic findings. 38
25365848 2014
49
A Neonate with CLOVES Syndrome. 38
25400966 2014
50
CLOVES syndrome. 38
24161472 2013

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 3:178952085-178952085 3:179234297-179234297
2 PIK3CA NM_006218.4(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 3:178952085-178952085 3:179234297-179234297
3 PIK3CA NM_006218.4(PIK3CA): c.1258T> C (p.Cys420Arg) single nucleotide variant Pathogenic rs121913272 3:178927980-178927980 3:179210192-179210192
4 PIK3CA NM_006218.4(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 3:178952084-178952084 3:179234296-179234296
5 PIK3CA NM_006218.4(PIK3CA): c.1624G> A (p.Glu542Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913273 3:178936082-178936082 3:179218294-179218294
6 PIK3CA NM_006218.4(PIK3CA): c.1130C> G (p.Pro377Arg) single nucleotide variant Uncertain significance rs113613074 3:178922361-178922361 3:179204573-179204573
7 PIK3CA NM_006218.4(PIK3CA): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance 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:

37
# 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 103)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 SMAD4 RASA1 PIK3R2 PIK3CA PI3 NF1
2
Show member pathways
13.32 PROS1 PIK3R2 PIK3CG PIK3CA PECAM1 AKT1
3
Show member pathways
13.3 TGFBR1 SMAD4 SLC2A1 PIK3R2 AKT1 ACVRL1
4
Show member pathways
13.1 TGFBR1 PIK3R2 PIK3CG PIK3CA AKT1
5
Show member pathways
13.04 TGFBR1 PIK3R2 PIK3CG PIK3CA AKT1
6
Show member pathways
12.97 TGFBR1 SMAD4 PIK3R2 PIK3CG PIK3CA AKT1
7
Show member pathways
12.88 TGFBR1 SMAD4 PIK3R2 PIK3CA AKT1
8
Show member pathways
12.87 TGFBR1 RASA1 PIK3R2 PIK3CA AKT1
9 12.81 TGFBR1 SMAD4 SLC2A1 PIK3R2 PIK3CA AKT1
10
Show member pathways
12.79 TGFBR1 SMAD4 PIK3R2 PIK3CA AKT1
11
Show member pathways
12.76 RASA1 PIK3R2 PIK3CA NF1 AKT1
12
Show member pathways
12.72 PIK3R2 PIK3CG PIK3CA NF1 AKT1
13
Show member pathways
12.67 PIK3R2 PIK3CG PIK3CA PECAM1 AKT1
14
Show member pathways
12.64 PIK3R2 PIK3CG PIK3CA AKT1
15
Show member pathways
12.61 RASA1 PIK3R2 PIK3CG PIK3CA
16
Show member pathways
12.6 RASA1 PIK3R2 PIK3CA AKT1
17
Show member pathways
12.6 RASA1 PIK3R2 PIK3CA AKT1
18
Show member pathways
12.58 RASA1 PIK3R2 PIK3CA AKT1
19
Show member pathways
12.57 SLC2A1 PIK3R2 PIK3CG PIK3CA AKT1
20
Show member pathways
12.52 PIK3R2 PIK3CG PIK3CA AKT1
21
Show member pathways
12.52 SLC2A1 PIK3R2 PIK3CG PIK3CA AKT1
22
Show member pathways
12.5 PIK3R2 PIK3CG PIK3CA AKT1
23
Show member pathways
12.49 TGFBR1 SMAD4 PIK3R2 AKT1
24
Show member pathways
12.46 RASA1 PIK3R2 PIK3CA AKT1
25
Show member pathways
12.45 PIK3R2 PIK3CG PIK3CA AKT1
26
Show member pathways
12.42 PIK3R2 PIK3CG PIK3CA AKT1
27
Show member pathways
12.41 TGFBR1 PIK3R2 PIK3CG PIK3CA AKT1
28
Show member pathways
12.36 RASA1 PIK3R2 PIK3CG PIK3CA AKT1
29
Show member pathways
12.35 TGFBR1 PIK3R2 PIK3CA AKT1
30
Show member pathways
12.26 PROS1 PIK3R2 PIK3CA PECAM1
31
Show member pathways
12.24 PIK3R2 PIK3CG PIK3CA PECAM1 AKT1
32
Show member pathways
12.23 PIK3R2 PIK3CG PIK3CA AKT1
33
Show member pathways
12.22 RASA1 PIK3R2 PIK3CA AKT1
34 12.21 TGFBR1 SMAD4 PIK3R2 AKT1
35 12.2 TGFBR1 PIK3R2 PIK3CA AKT1
36 12.19 TGFBR1 SMAD4 SLC2A1 PIK3R2 PIK3CA AKT1
37
Show member pathways
12.19 RASA1 PIK3R2 PIK3CG PIK3CA NF1 AKT1
38 12.17 PIK3R2 PIK3CG PIK3CA AKT1
39
Show member pathways
12.17 PIK3R2 PIK3CG PIK3CA AKT1
40
Show member pathways
12.16 RASA1 PIK3R2 PIK3CA AKT1
41 12.12 SMAD4 PIK3R2 PIK3CA AKT1
42 12.12 PIK3R2 PIK3CA PECAM1 AKT1
43 12.11 TGFBR1 SMAD4 PIK3CG AKT1
44
Show member pathways
12.11 TGFBR1 PIK3R2 PIK3CG PIK3CA AKT1
45
Show member pathways
12.1 TGFBR1 PIK3R2 PIK3CG PIK3CA AKT1
46 12.09 PIK3R2 PIK3CA AKT1
47
Show member pathways
12.09 TGFBR1 SMAD4 PIK3R2 PIK3CA AKT1
48 12.09 TGFBR1 SMAD4 PIK3R2 AKT1
49
Show member pathways
12.07 RASA1 NF1 AKT1
50 12.07 TGFBR1 PIK3R2 PIK3CA 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 9.9 TGFBR1 SLC2A1 RASA1 PROS1 PIK3CG PIK3CA
2 activin receptor complex GO:0048179 8.96 TGFBR1 ACVRL1
3 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 41)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell migration GO:0030336 9.85 NF1 ENG ACVRL1
2 leukocyte migration GO:0050900 9.85 PROS1 PIK3R2 PIK3CA PECAM1
3 phosphatidylinositol phosphorylation GO:0046854 9.83 PIK3R2 PIK3CG PIK3CA
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.82 TGFBR1 SMAD4 ACVRL1
5 wound healing GO:0042060 9.81 TGFBR1 PECAM1 NF1
6 response to hypoxia GO:0001666 9.81 SMAD4 SLC2A1 NF1 ACVRL1
7 BMP signaling pathway GO:0030509 9.78 SMAD4 ENG ACVRL1
8 cellular response to mechanical stimulus GO:0071260 9.77 SLC2A1 ENG AKT1
9 negative regulation of cell-matrix adhesion GO:0001953 9.68 RASA1 NF1
10 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.68 SMAD4 ENG
11 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.68 TGFBR1 ACVRL1
12 endocardial cushion morphogenesis GO:0003203 9.67 ENG ACVRL1
13 activin receptor signaling pathway GO:0032924 9.67 TGFBR1 ACVRL1
14 ventricular trabecula myocardium morphogenesis GO:0003222 9.67 TGFBR1 ENG
15 phosphatidylinositol-mediated signaling GO:0048015 9.67 PIK3R2 PIK3CG PIK3CA
16 negative regulation of macroautophagy GO:0016242 9.65 PIK3CA AKT1
17 negative regulation of endothelial cell proliferation GO:0001937 9.65 TGFBR1 NF1 ACVRL1
18 positive regulation of protein kinase B signaling GO:0051897 9.65 TGFBR1 PIK3R2 PIK3CG PIK3CA ENG
19 response to transforming growth factor beta GO:0071559 9.63 SMAD4 ENG
20 positive regulation of SMAD protein signal transduction GO:0060391 9.63 TGFBR1 SMAD4
21 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.62 SMAD4 ENG
22 smooth muscle tissue development GO:0048745 9.62 NF1 ENG
23 positive regulation of endothelial cell proliferation GO:0001938 9.62 TGFBR1 NF1 AKT1 ACVRL1
24 anoikis GO:0043276 9.61 PIK3CA AKT1
25 positive regulation of BMP signaling pathway GO:0030513 9.61 SMAD4 ENG ACVRL1
26 endothelial cell activation GO:0042118 9.6 TGFBR1 SMAD4
27 negative regulation of fibroblast apoptotic process GO:2000270 9.58 PIK3CG PIK3CA
28 dorsal aorta morphogenesis GO:0035912 9.58 ENG ACVRL1
29 endothelial cell migration GO:0043542 9.58 TGFBR1 PIK3CA PECAM1
30 regulation of blood vessel endothelial cell migration GO:0043535 9.57 NF1 ACVRL1
31 neutrophil extravasation GO:0072672 9.56 PIK3CG PECAM1
32 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.54 TGFBR1 ENG
33 artery morphogenesis GO:0048844 9.54 TGFBR1 NF1 ENG
34 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.52 PIK3CG PIK3CA
35 endocardial cushion to mesenchymal transition GO:0090500 9.46 ENG ACVRL1
36 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.46 TGFBR1 SMAD4 ENG ACVRL1
37 angiogenesis GO:0001525 9.43 TGFBR1 PIK3CG PIK3CA PECAM1 ENG ACVRL1
38 phosphatidylinositol 3-kinase signaling GO:0014065 9.02 PIK3R2 PIK3CG PIK3CA NF1 AKT1
39 signal transduction GO:0007165 10.21 TGFBR1 RASA1 PIK3R2 PECAM1 NF1 AKT1
40 phosphorylation GO:0016310 10.05 TGFBR1 PIK3CG PIK3CA AKT1 ACVRL1
41 protein phosphorylation GO:0006468 10.04 TGFBR1 PIK3CG PIK3CA AKT1 ACVRL1

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 kinase activity GO:0016301 9.91 TGFBR1 PIK3CG PIK3CA AKT1 ACVRL1
2 protein serine/threonine kinase activity GO:0004674 9.65 TGFBR1 PIK3CG PIK3CA AKT1 ACVRL1
3 transforming growth factor beta-activated receptor activity GO:0005024 9.52 TGFBR1 ACVRL1
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.49 TGFBR1 ACVRL1
5 I-SMAD binding GO:0070411 9.48 TGFBR1 SMAD4
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 PIK3CG PIK3CA
7 type II transforming growth factor beta receptor binding GO:0005114 9.43 TGFBR1 ENG
8 transforming growth factor beta receptor activity, type I GO:0005025 9.4 TGFBR1 ACVRL1
9 phosphatidylinositol 3-kinase activity GO:0035004 9.37 PIK3CG PIK3CA
10 1-phosphatidylinositol-4-phosphate 3-kinase activity GO:0035005 9.32 PIK3CG PIK3CA
11 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 PIK3CG PIK3CA
12 transforming growth factor beta binding GO:0050431 9.13 TGFBR1 ENG ACVRL1
13 activin binding GO:0048185 8.8 TGFBR1 ENG 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....