MCID: CLV009
MIFTS: 32

Clove Syndrome, Somatic

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

Aliases & Classifications for Clove Syndrome, Somatic

MalaCards integrated aliases for Clove Syndrome, Somatic:

Name: Clove Syndrome, Somatic 54 13
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 50 71 29 69
Cloves Syndrome 50 24 56 71
Clove Syndrome 50 24 71
Nevus 42 69
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/spinal Abnormalities 50
Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi and Skeletal/spinal Abnormalities 71
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome 56
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome 56
Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi 50
Congenital Arteriovenous Malformation 69
Arteriovenous Malformations 42
Arteriovenous Hemangioma 69
Benign Melanocytic Nevus 69
Melanocytic Nevus 69
Clove 71

Characteristics:

Orphanet epidemiological data:

56
cloves syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
isolated cases

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


HPO:

32
clove syndrome, somatic:
Inheritance sporadic


Classifications:



Summaries for Clove Syndrome, Somatic

NIH Rare Diseases : 50 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. last updated: 10/5/2016

MalaCards based summary : Clove Syndrome, Somatic, also known as congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, is related to capillary malformation-arteriovenous malformation and arteriovenous malformation, and has symptoms including scoliosis, splenomegaly and spinal dysraphism. An important gene associated with Clove Syndrome, Somatic is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). Affiliated tissues include skin, kidney and spleen.

UniProtKB/Swiss-Prot : 71 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 : 72 CLOVES syndrome is an extremely rare overgrowth syndrome, with complex vascular anomalies. CLOVES... more...

Description from OMIM: 612918

Related Diseases for Clove Syndrome, Somatic

Diseases related to Clove Syndrome, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
id Related Disease Score Top Affiliating Genes
1 capillary malformation-arteriovenous malformation 12.5
2 arteriovenous malformation 12.5
3 pulmonary arteriovenous malformation 12.3
4 giant congenital nevus 12.3
5 extracranial arteriovenous malformation 12.3
6 blue rubber bleb nevus 12.2
7 melanocytic nevus syndrome, congenital, somatic 12.2
8 epidermal nevus, somatic 12.2
9 basal cell nevus syndrome 12.2
10 inflammatory linear verrucous epidermal nevus 12.2
11 becker nevus syndrome 12.2
12 white sponge nevus 1 12.2
13 dysplastic nevus syndrome 12.1
14 mandibular arteriovenous malformation 12.1
15 spitz nevus 12.1
16 maxillary arteriovenous malformation 12.1
17 nevus of ota 12.1
18 porokeratotic eccrine ostial and dermal duct nevus 12.1
19 nevus comedonicus, somatic 12.1
20 facial arteriovenous malformation 12.0
21 frontonasal arteriovenous malformation 12.0
22 tièche-jadassohn nevus 12.0
23 intracranial hemorrhage in brain cerebrovascular malformations 12.0
24 white sponge nevus 2 11.9
25 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 11.9
26 vein of galen aneurysm 11.9
27 conjunctival nevus 11.8
28 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 11.8
29 congenital panfollicular nevus 11.8
30 angora hair nevus 11.8
31 verrucous nevus acanthokeratolytic 11.7
32 linear verrucous nevus syndrome 11.6
33 cobb syndrome 11.5
34 hereditary hemorrhagic telangiectasia 11.4
35 pulmonary arteriovenous fistulas 11.2
36 wyburn mason's syndrome 11.1
37 telangiectasia, hereditary hemorrhagic, type 1 11.0
38 telangiectasia, hereditary hemorrhagic, type 5 11.0
39 pulmonary arterio-veinous fistula 11.0
40 telangiectasia, hereditary hemorrhagic, type 2 11.0
41 dural sinus malformation 10.9
42 klippel-trenaunay-weber syndrome 10.9
43 paroxysmal hemicrania 10.8
44 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.8
45 superficial siderosis of the central nervous system 10.8
46 cerebral cavernous malformations-1 10.8
47 noonan syndrome 1 10.8
48 hemorrhage, intracerebral 10.8
49 vascular malformation 9.8
50 pulmonary embolism 9.8

Graphical network of the top 20 diseases related to Clove Syndrome, Somatic:



Diseases related to Clove Syndrome, Somatic

Symptoms & Phenotypes for Clove Syndrome, Somatic

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Spleen:
splenomegaly
cysts in spleen

Head And Neck- Face:
facial asymmetry

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)

Skeletal- Feet:
plantar overgrowth
wide feet (most cases)
furrowed sole
wide sandal gap
talipes deformities (rare)
more
Muscle Soft Tissue:
lipomas or lipomatous masses (most cases)
lipohypoplasia, regional

Skeletal- Spine:
scoliosis (in some patients)
megaspondylodysplasia

Growth- Other:
prenatal overgrowth
hemihypertrophy (major feature)

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)

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 Clove Syndrome, Somatic:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 occasional (7.5%) HP:0002650
2 splenomegaly 32 HP:0001744
3 spinal dysraphism 32 occasional (7.5%) HP:0010301
4 facial asymmetry 32 HP:0000324
5 sandal gap 32 HP:0001852
6 macrodactyly 32 HP:0004099
7 overgrowth 32 HP:0001548
8 hemihypertrophy 32 obligate (100%) HP:0001528
9 tethered cord 32 occasional (7.5%) HP:0002144
10 cranial hyperostosis 32 HP:0004437
11 lipoma 32 frequent (33%) HP:0012032
12 renal hypoplasia/aplasia 32 occasional (7.5%) HP:0008678
13 lower limb asymmetry 32 occasional (7.5%) HP:0100559
14 abnormality of cardiovascular system morphology 32 HP:0030680
15 venous malformation 32 HP:0012721

UMLS symptoms related to Clove Syndrome, Somatic:


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

Drugs & Therapeutics for Clove Syndrome, Somatic

Search Clinical Trials , NIH Clinical Center for Clove Syndrome, Somatic

Cochrane evidence based reviews: arteriovenous malformations

Genetic Tests for Clove Syndrome, Somatic

Genetic tests related to Clove Syndrome, Somatic:

id Genetic test Affiliating Genes
1 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 29
2 Cloves Syndrome 24

Anatomical Context for Clove Syndrome, Somatic

MalaCards organs/tissues related to Clove Syndrome, Somatic:

39
Skin, Kidney, Spleen

Publications for Clove Syndrome, Somatic

Variations for Clove Syndrome, Somatic

UniProtKB/Swiss-Prot genetic disease variations for Clove Syndrome, Somatic:

71
id 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 Clove Syndrome, Somatic:

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

Expression for Clove Syndrome, Somatic

Search GEO for disease gene expression data for Clove Syndrome, Somatic.

Pathways for Clove Syndrome, Somatic

GO Terms for Clove Syndrome, Somatic

Sources for Clove Syndrome, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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