MCID: CNG510
MIFTS: 36

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal 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 53 75 37 29 6 73
Cloves Syndrome 57 53 59 75
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 capillary malformation-arteriovenous malformation, and has symptoms including angina pectoris, back pain and chest pain. 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 Mitogens and Endothelial Growth Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and bone, and related phenotypes are scoliosis and splenomegaly

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 as only 50 people have it in the world, with... 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 74)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformations of the brain 12.7
2 capillary malformation-arteriovenous malformation 12.6
3 arteriovenous malformation 12.6
4 nevus, epidermal 12.5
5 pulmonary arteriovenous malformation 12.5
6 giant congenital nevus 12.5
7 white sponge nevus 1 12.4
8 extracranial arteriovenous malformation 12.4
9 melanocytic nevus syndrome, congenital 12.4
10 becker nevus syndrome 12.4
11 nevus comedonicus 12.3
12 blue rubber bleb nevus 12.3
13 inflammatory linear verrucous epidermal nevus 12.3
14 basal cell nevus syndrome 12.3
15 mandibular arteriovenous malformation 12.3
16 maxillary arteriovenous malformation 12.3
17 dysplastic nevus syndrome 12.3
18 tièche-jadassohn nevus 12.3
19 spitz nevus 12.3
20 nevus of ota 12.2
21 porokeratotic eccrine ostial and dermal duct nevus 12.2
22 nevus anemicus 12.1
23 schimmelpenning-feuerstein-mims syndrome 12.1
24 facial arteriovenous malformation 12.1
25 frontonasal arteriovenous malformation 12.1
26 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.1
27 white sponge nevus 2 12.1
28 epidermolytic nevus 12.0
29 vein of galen aneurysm 12.0
30 conjunctival nevus 12.0
31 congenital panfollicular nevus 11.9
32 angora hair nevus 11.9
33 cobb syndrome 11.6
34 pulmonary arteriovenous fistulas 11.6
35 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.6
36 hereditary hemorrhagic telangiectasia 11.5
37 telangiectasia, hereditary hemorrhagic, type 1 11.5
38 telangiectasia, hereditary hemorrhagic, type 2 11.4
39 pulmonary arterio-veinous fistula 11.4
40 pik3ca-related overgrowth spectrum 11.3
41 wyburn mason's syndrome 11.2
42 parkes weber syndrome 11.2
43 cauda equina syndrome 11.2
44 cerebral cavernous malformations 11.2
45 foix-alajouanine syndrome 11.2
46 telangiectasia, hereditary hemorrhagic, type 5 11.1
47 dural sinus malformation 11.0
48 klippel-trenaunay-weber syndrome 10.9
49 noonan syndrome 1 10.9
50 telangiectasia, hereditary hemorrhagic, type 4 10.9

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
AbdomenSpleen:
splenomegaly
cysts in spleen

Skeletal Feet:
macrodactyly
wide sandal gap
plantar overgrowth
wide feet (most cases)
furrowed sole
more
Growth Other:
prenatal overgrowth
hemihypertrophy (major feature)

GenitourinaryInternal GenitaliaMale:
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

Skeletal Spine:
scoliosis (in some patients)
megaspondylodysplasia

Cardiovascular Vascular:
vascular (arteriovenous) malformation, progressive, with cutaneous involvement
capillary malformation
lymphatic malformation (low flow) (most cases)
venous malformation (low flow) (most cases)
perispinal vascular malformations, high-flow (in some patients)
more
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 tethered cord 32 occasional (7.5%) HP:0002144
14 capillary malformation 32 HP:0025104
15 venous malformation 32 HP:0012721

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


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

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 Mitogens
2 Endothelial Growth Factors

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
Skin, Kidney, Bone, Spleen, Endothelial

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

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

# Title Authors Year
1
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. ( 18816642 )
2008
2
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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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