CLOVE
MCID: CNG510
MIFTS: 66

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 75 37 29 6 73
Cloves Syndrome 57 12 53 59 75 15
Clove Syndrome, Somatic 57 13 40
Clove Syndrome 57 53 75
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/spinal Abnormalities 57 53
Nevus 44 73
Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi and Skeletal/spinal Abnormalities 75
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 73
Arteriovenous Malformations 44
Arteriovenous Hemangioma 73
Benign Melanocytic Nevus 73
Melanocytic Nevus 73
Clove 75

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
isolated cases

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


HPO:

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


Classifications:



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

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.

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 arteriovenous malformation, 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 Endothelial Growth Factors and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and kidney, and related phenotypes are scoliosis and splenomegaly

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.

UniProtKB/Swiss-Prot : 75 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 : 76 CLOVES syndrome is an extremely rare overgrowth syndrome with complex vascular anomalies. CLOVES... more...

Description 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 735)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformations of the brain 34.5 ACVRL1 ENG RASA1
2 arteriovenous malformation 34.4 ACVRL1 ENG RASA1
3 pulmonary arteriovenous malformation 34.3 ACVRL1 ENG
4 hereditary hemorrhagic telangiectasia 32.7 ACVRL1 ENG SMAD4
5 capillary hemangioma 32.6 PECAM1 RASA1 SLC2A1
6 cutis marmorata telangiectatica congenita 32.2 PIK3CA PIK3R2
7 megalencephaly-capillary malformation-polymicrogyria syndrome 31.9 PIK3CA PIK3R2
8 venous malformations, multiple cutaneous and mucosal 31.5 ACVRL1 RASA1 SMAD4
9 weber syndrome 30.7 ACVRL1 ENG RASA1
10 telangiectasis 30.5 ACVRL1 ENG SMAD4 TGFBR1
11 cowden disease 30.2 AKT1 PIK3CA SMAD4
12 tuberous sclerosis 29.6 AKT1 NF1 PIK3CA
13 angiokeratoma circumscriptum 29.5 RASA1 SLC2A1
14 proteus syndrome 29.5 AKT1 IGF2 PIK3CA PIK3R2 RASA1
15 capillary malformation-arteriovenous malformation 12.8
16 melanocytic nevus syndrome, congenital 12.7
17 white sponge nevus 1 12.6
18 extracranial arteriovenous malformation 12.5
19 giant congenital nevus 12.5
20 becker nevus syndrome 12.5
21 blue rubber bleb nevus 12.5
22 nevus comedonicus 12.5
23 basal cell nevus syndrome 12.5
24 inflammatory linear verrucous epidermal nevus 12.5
25 tièche-jadassohn nevus 12.5
26 mandibular arteriovenous malformation 12.4
27 maxillary arteriovenous malformation 12.4
28 dysplastic nevus syndrome 12.4
29 spitz nevus 12.4
30 porokeratotic eccrine ostial and dermal duct nevus 12.4
31 schimmelpenning-feuerstein-mims syndrome 12.3
32 nevus anemicus 12.3
33 facial arteriovenous malformation 12.3
34 frontonasal arteriovenous malformation 12.3
35 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.3
36 white sponge nevus 2 12.3
37 epidermolytic nevus 12.2
38 conjunctival nevus 12.1
39 vein of galen aneurysm 12.1
40 congenital panfollicular nevus 12.0
41 angora hair nevus 12.0
42 nevus flammeus of nape of neck 11.9
43 verrucous nevus acanthokeratolytic 11.9
44 craniosynostosis exostoses nevus epibulbar dermoid 11.9
45 epidermal nevus vitamin d resistant rickets 11.9
46 nevus mucinosis 11.9
47 linear verrucous nevus syndrome 11.9
48 elastoma 11.8
49 halo nevi 11.8
50 cobb syndrome 11.7

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...

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

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

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

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


seizures, tremor, angina pectoris, edema, pruritus, back pain, pain, chest pain, macule, 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 top 50) (show all 58)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.67 PIK3CA
2 Decreased viability GR00173-A 10.67 PIK3R2
3 Decreased viability GR00221-A-1 10.67 ACVRL1 AKT1 NF1 PIK3CA PIK3CG PIK3R2
4 Decreased viability GR00221-A-2 10.67 ACVRL1 AKT1 NF1 PIK3CA PIK3CG PIK3R2
5 Decreased viability GR00221-A-3 10.67 ACVRL1 AKT1 RASA1
6 Decreased viability GR00221-A-4 10.67 ACVRL1 AKT1 NF1 PIK3CA PIK3CG PIK3R2
7 Decreased viability GR00301-A 10.67 PIK3R2
8 Decreased viability GR00342-S-2 10.67 PIK3CG
9 Decreased viability GR00342-S-3 10.67 PIK3CG
10 Decreased viability GR00381-A-1 10.67 RASA1
11 Decreased viability GR00402-S-2 10.67 ACVRL1 AKT1 NF1 PIK3CA PIK3CG PIK3R2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.22 PIK3CA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.22 ABCC5
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.22 ACVRL1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.22 ACVRL1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.22 ABCC5 ACVRL1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.22 TGFBR1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 10.22 ABCC5
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.22 TGFBR1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.22 TGFBR1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.22 AKT1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.22 PIK3CA
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.22 TGFBR1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.22 ABCC5
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.22 ACVRL1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.22 PIK3CA
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.22 ABCC5 ACVRL1 AKT1 PIK3CA TGFBR1
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.22 ACVRL1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.22 TGFBR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.85 PIK3R2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 PIK3R2 TGFBR1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.85 ACVRL1 PIK3R2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.85 PIK3CG
34 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.85 ACVRL1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.85 TGFBR1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.85 AKT1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.85 ACVRL1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.85 TGFBR1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.85 AKT1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.85 ACVRL1 PIK3CG
41 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.85 PIK3R2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.85 TGFBR1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.85 TGFBR1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.85 AKT1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.85 ACVRL1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.85 AKT1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.85 PIK3R2
48 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.85 ACVRL1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.85 AKT1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.85 ACVRL1

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

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 ACVRL1 AKT1 ENG IGF2 NF1 PECAM1
2 cellular MP:0005384 10.3 ABCC5 AKT1 IGF2 NF1 PECAM1 PIK3CA
3 growth/size/body region MP:0005378 10.29 ACVRL1 AKT1 ENG IGF2 NF1 PIK3CA
4 homeostasis/metabolism MP:0005376 10.29 ACVRL1 AKT1 ENG IGF2 NF1 PECAM1
5 embryo MP:0005380 10.26 ACVRL1 AKT1 ENG IGF2 NF1 PIK3CA
6 hematopoietic system MP:0005397 10.19 ACVRL1 AKT1 ENG IGF2 NF1 PECAM1
7 mortality/aging MP:0010768 10.15 ACVRL1 AKT1 ENG IGF2 NF1 PIK3CA
8 digestive/alimentary MP:0005381 10.14 ACVRL1 ENG IGF2 NF1 PECAM1 RASA1
9 muscle MP:0005369 10.13 ACVRL1 AKT1 ENG IGF2 NF1 PECAM1
10 immune system MP:0005387 10.11 AKT1 IGF2 NF1 PECAM1 PIK3CA PIK3CG
11 integument MP:0010771 10.09 AKT1 ENG IGF2 NF1 PIK3CA PIK3CG
12 craniofacial MP:0005382 10.02 ACVRL1 ENG IGF2 NF1 RASA1 SMAD4
13 liver/biliary system MP:0005370 9.95 ACVRL1 AKT1 IGF2 NF1 PECAM1 PROS1
14 nervous system MP:0003631 9.9 ACVRL1 AKT1 ENG IGF2 NF1 PIK3CA
15 neoplasm MP:0002006 9.73 AKT1 NF1 PIK3CA PIK3R2 SMAD4 TGFBR1
16 respiratory system MP:0005388 9.5 ACVRL1 AKT1 ENG IGF2 NF1 PECAM1
17 skeleton MP:0005390 9.28 AKT1 IGF2 NF1 PECAM1 PIK3CA PIK3CG

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Endothelial Growth Factors
2 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
2 Lymphatic Anomalies Registry Recruiting NCT02399527

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
Brain, Skin, Kidney, Heart, Liver, Bone, Spleen

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

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

# Title Authors Year
1
Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome. ( 29882992 )
2018
2
Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications. ( 28032156 )
2017
3
CLOVES Syndrome: Severe Neonatal Presentation. ( 28571234 )
2017
4
Combined endovascular and microsurgical treatment of a complex spinal arteriovenous fistula associated with CLOVES syndrome in an adult patient. ( 27729180 )
2016
5
An Extremely Rare Disorder of Somatic Mosaicism: CLOVES Syndrome. ( 27611016 )
2016
6
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. ( 18816642 )
2008
7
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. ( 17963221 )
2007

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

UniProtKB/Swiss-Prot genetic disease variations for Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

75
# Symbol AA change Variation ID SNP ID
1 PIK3CA p.Cys420Arg VAR_026171 rs121913272
2 PIK3CA p.Glu542Lys VAR_026173 rs121913273
3 PIK3CA p.His1047Arg VAR_026192 rs121913279

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
2 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
3 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
4 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
5 PIK3CA NM_006218.3(PIK3CA): c.1624G> A (p.Glu542Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913273 GRCh37 Chromosome 3, 178936082: 178936082
6 PIK3CA NM_006218.3(PIK3CA): c.1624G> A (p.Glu542Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913273 GRCh38 Chromosome 3, 179218294: 179218294
7 PIK3CA NM_006218.3(PIK3CA): c.1258T> C (p.Cys420Arg) single nucleotide variant Pathogenic rs121913272 GRCh37 Chromosome 3, 178927980: 178927980
8 PIK3CA NM_006218.3(PIK3CA): c.1258T> C (p.Cys420Arg) single nucleotide variant Pathogenic rs121913272 GRCh38 Chromosome 3, 179210192: 179210192

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 108)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 ACVRL1 AKT1 IGF2 NF1 PIK3CG PIK3R2
2
Show member pathways
13.52 AKT1 NF1 PI3 PIK3CA PIK3R2 RASA1
3
Show member pathways
13.34 AKT1 IGF2 PECAM1 PIK3CA PIK3CG PIK3R2
4
Show member pathways
13.32 ACVRL1 AKT1 IGF2 PIK3R2 SLC2A1 SMAD4
5
Show member pathways
13.09 AKT1 PIK3CA PIK3CG PIK3R2 SMAD4 TGFBR1
6
Show member pathways
13.05 AKT1 PIK3CA PIK3CG PIK3R2 TGFBR1
7
Show member pathways
13.03 AKT1 PIK3CA PIK3CG PIK3R2 TGFBR1
8
Show member pathways
13.01 AKT1 IGF2 PIK3CA PIK3CG PIK3R2
9
Show member pathways
12.89 AKT1 PIK3CA PIK3R2 SMAD4 TGFBR1
10
Show member pathways
12.88 AKT1 IGF2 PIK3CA PIK3R2 RASA1 TGFBR1
11
Show member pathways
12.81 AKT1 NF1 PIK3CA PIK3CG PIK3R2
12 12.8 AKT1 IGF2 NF1 RASA1 TGFBR1
13
Show member pathways
12.74 AKT1 IGF2 PIK3CA PIK3R2 SMAD4 TGFBR1
14
Show member pathways
12.7 AKT1 IGF2 NF1 PIK3CA PIK3R2 RASA1
15 12.7 AKT1 IGF2 PIK3CA PIK3R2 SLC2A1 SMAD4
16
Show member pathways
12.69 AKT1 PECAM1 PIK3CA PIK3CG PIK3R2
17
Show member pathways
12.62 PIK3CA PIK3CG PIK3R2 RASA1
18
Show member pathways
12.61 AKT1 PIK3CA PIK3R2 RASA1
19
Show member pathways
12.6 AKT1 PIK3CA PIK3R2 RASA1
20
Show member pathways
12.59 AKT1 PIK3CA PIK3R2 RASA1
21
Show member pathways
12.55 AKT1 PIK3CA PIK3CG PIK3R2 SLC2A1
22
Show member pathways
12.53 AKT1 PIK3CA PIK3CG PIK3R2
23
Show member pathways
12.51 AKT1 PIK3CA PIK3CG PIK3R2
24
Show member pathways
12.5 AKT1 PIK3R2 SMAD4 TGFBR1
25
Show member pathways
12.49 AKT1 PIK3CA PIK3CG PIK3R2 SLC2A1
26
Show member pathways
12.47 AKT1 PIK3CA PIK3R2 RASA1
27
Show member pathways
12.47 AKT1 PIK3CA PIK3CG PIK3R2
28
Show member pathways
12.46 AKT1 PIK3CA PIK3R2 RASA1 SMAD4 TGFBR1
29
Show member pathways
12.45 AKT1 PIK3CA PIK3CG PIK3R2 TGFBR1
30
Show member pathways
12.44 AKT1 PIK3CA PIK3CG PIK3R2
31
Show member pathways
12.43 AKT1 IGF2 PIK3CA PIK3R2
32
Show member pathways
12.38 AKT1 PIK3CA PIK3CG PIK3R2 RASA1
33
Show member pathways
12.37 AKT1 PIK3CA PIK3R2 TGFBR1
34 12.34 AKT1 IGF2 PIK3CA PIK3R2
35
Show member pathways
12.27 PECAM1 PIK3CA PIK3R2 PROS1
36
Show member pathways
12.26 AKT1 PECAM1 PIK3CA PIK3CG PIK3R2
37 12.25 AKT1 PIK3CA PIK3R2 SLC2A1 SMAD4 TGFBR1
38
Show member pathways
12.24 AKT1 PIK3CA PIK3CG PIK3R2
39
Show member pathways
12.24 AKT1 PIK3CA PIK3R2 RASA1
40 12.23 AKT1 PIK3R2 SMAD4 TGFBR1
41 12.21 AKT1 PIK3CA PIK3R2 TGFBR1
42
Show member pathways
12.19 AKT1 NF1 PIK3CA PIK3CG PIK3R2 RASA1
43 12.18 AKT1 PIK3CA PIK3CG PIK3R2
44
Show member pathways
12.18 AKT1 PIK3CA PIK3CG PIK3R2
45
Show member pathways
12.18 AKT1 PIK3CA PIK3R2 RASA1
46
Show member pathways
12.17 AKT1 IGF2 PIK3CA PIK3R2
47 12.14 AKT1 PECAM1 PIK3CA PIK3R2
48
Show member pathways
12.14 AKT1 PIK3CA PIK3CG PIK3R2 TGFBR1
49 12.13 AKT1 PIK3CA PIK3R2 SMAD4
50 12.13 AKT1 PIK3CG SMAD4 TGFBR1

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 activin receptor complex GO:0048179 9.16 ACVRL1 TGFBR1
2 transforming growth factor beta receptor complex GO:0070022 8.96 ENG TGFBR1
3 phosphatidylinositol 3-kinase complex GO:0005942 8.8 PIK3CA PIK3CG PIK3R2
4 plasma membrane GO:0005886 10 ABCC5 ACVRL1 AKT1 ENG PECAM1 PIK3CA

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell migration GO:0030336 9.88 ACVRL1 ENG NF1
2 platelet degranulation GO:0002576 9.87 IGF2 PECAM1 PROS1
3 in utero embryonic development GO:0001701 9.87 ACVRL1 IGF2 SMAD4 TGFBR1
4 phosphatidylinositol phosphorylation GO:0046854 9.86 PIK3CA PIK3CG PIK3R2
5 leukocyte migration GO:0050900 9.86 PECAM1 PIK3CA PIK3R2 PROS1
6 osteoblast differentiation GO:0001649 9.85 AKT1 IGF2 NF1
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.83 ACVRL1 SMAD4 TGFBR1
8 wound healing GO:0042060 9.83 NF1 PECAM1 TGFBR1
9 response to hypoxia GO:0001666 9.83 ACVRL1 NF1 SLC2A1 SMAD4
10 BMP signaling pathway GO:0030509 9.8 ACVRL1 ENG SMAD4
11 insulin receptor signaling pathway GO:0008286 9.79 AKT1 IGF2 PIK3R2
12 cellular response to mechanical stimulus GO:0071260 9.79 AKT1 ENG SLC2A1
13 glucose metabolic process GO:0006006 9.77 AKT1 IGF2 PIK3CA
14 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.72 PIK3CA PIK3CG PIK3R2
15 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.7 ACVRL1 TGFBR1
16 activin receptor signaling pathway GO:0032924 9.69 ACVRL1 TGFBR1
17 endocardial cushion morphogenesis GO:0003203 9.69 ACVRL1 ENG
18 positive regulation of glycogen biosynthetic process GO:0045725 9.69 AKT1 IGF2
19 ventricular trabecula myocardium morphogenesis GO:0003222 9.68 ENG TGFBR1
20 striated muscle cell differentiation GO:0051146 9.68 AKT1 IGF2
21 negative regulation of macroautophagy GO:0016242 9.67 AKT1 PIK3CA
22 phosphatidylinositol-mediated signaling GO:0048015 9.67 PIK3CA PIK3CG PIK3R2
23 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.65 ENG SMAD4
24 positive regulation of SMAD protein signal transduction GO:0060391 9.65 SMAD4 TGFBR1
25 negative regulation of endothelial cell proliferation GO:0001937 9.65 ACVRL1 NF1 TGFBR1
26 response to transforming growth factor beta GO:0071559 9.64 ENG SMAD4
27 anoikis GO:0043276 9.64 AKT1 PIK3CA
28 smooth muscle tissue development GO:0048745 9.63 ENG NF1
29 angiogenesis GO:0001525 9.63 ACVRL1 ENG PECAM1 PIK3CA PIK3CG TGFBR1
30 endothelial cell activation GO:0042118 9.62 SMAD4 TGFBR1
31 positive regulation of endothelial cell proliferation GO:0001938 9.62 ACVRL1 AKT1 NF1 TGFBR1
32 negative regulation of fibroblast apoptotic process GO:2000270 9.61 PIK3CA PIK3CG
33 positive regulation of BMP signaling pathway GO:0030513 9.61 ACVRL1 ENG SMAD4
34 dorsal aorta morphogenesis GO:0035912 9.6 ACVRL1 ENG
35 neutrophil extravasation GO:0072672 9.58 PECAM1 PIK3CG
36 regulation of blood vessel endothelial cell migration GO:0043535 9.58 ACVRL1 NF1
37 endothelial cell migration GO:0043542 9.58 PECAM1 PIK3CA TGFBR1
38 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.56 ACVRL1 ENG SMAD4 TGFBR1
39 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.54 ENG TGFBR1
40 artery morphogenesis GO:0048844 9.54 ENG NF1 TGFBR1
41 insulin receptor signaling pathway via phosphatidylinositol 3-kinase GO:0038028 9.51 IGF2 PIK3CA
42 endocardial cushion to mesenchymal transition GO:0090500 9.46 ACVRL1 ENG
43 positive regulation of protein kinase B signaling GO:0051897 9.43 ENG IGF2 PIK3CA PIK3CG PIK3R2 TGFBR1
44 phosphatidylinositol 3-kinase signaling GO:0014065 9.02 AKT1 NF1 PIK3CA PIK3CG PIK3R2
45 signal transduction GO:0007165 10.24 ACVRL1 AKT1 NF1 PECAM1 PIK3R2 RASA1
46 positive regulation of transcription by RNA polymerase II GO:0045944 10.15 ACVRL1 AKT1 ENG IGF2 PIK3R2 SMAD4
47 phosphorylation GO:0016310 10.08 ACVRL1 AKT1 PIK3CA PIK3CG TGFBR1
48 protein phosphorylation GO:0006468 10.06 ACVRL1 AKT1 PIK3CA PIK3CG TGFBR1

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 9.92 ACVRL1 AKT1 PIK3CA PIK3CG TGFBR1
2 protein serine/threonine kinase activity GO:0004674 9.65 ACVRL1 AKT1 PIK3CA PIK3CG TGFBR1
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.63 PIK3CA PIK3CG PIK3R2
4 transforming growth factor beta-activated receptor activity GO:0005024 9.51 ACVRL1 TGFBR1
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.49 ACVRL1 TGFBR1
6 I-SMAD binding GO:0070411 9.48 SMAD4 TGFBR1
7 1-phosphatidylinositol-4-phosphate 3-kinase activity GO:0035005 9.43 PIK3CA PIK3CG
8 phosphatidylinositol 3-kinase activity GO:0035004 9.4 PIK3CA PIK3CG
9 transforming growth factor beta receptor activity, type I GO:0005025 9.37 ACVRL1 TGFBR1
10 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 PIK3CA PIK3CG PIK3R2
11 type II transforming growth factor beta receptor binding GO:0005114 9.32 ENG TGFBR1
12 transforming growth factor beta binding GO:0050431 9.13 ACVRL1 ENG TGFBR1
13 activin binding GO:0048185 8.8 ACVRL1 ENG TGFBR1

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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