MCID: SGM010
MIFTS: 19

Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome

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

Aliases & Classifications for Segmental Outgrowth-Lipomatosis-Arteriovenous...

MalaCards integrated aliases for Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome:

Name: Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 58
Solamen Syndrome 58

Classifications:

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


Summaries for Segmental Outgrowth-Lipomatosis-Arteriovenous...

MalaCards based summary : Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome, also known as solamen syndrome, is related to cowden syndrome 1 and nevus, epidermal. An important gene associated with Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include bone, heart and thyroid, and related phenotypes are arteriovenous malformation and subcutaneous nodule

Related Diseases for Segmental Outgrowth-Lipomatosis-Arteriovenous...

Diseases related to Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 10.0
2 nevus, epidermal 10.0
3 proteus syndrome 10.0
4 capillary malformation-arteriovenous malformation 1 10.0
5 tumor predisposition syndrome 10.0
6 cutaneous telangiectasia and cancer syndrome, familial 10.0
7 arteriovenous malformation 10.0
8 lipomatosis 10.0
9 pik3ca-related segmental overgrowth 10.0
10 proteus-like syndrome 10.0
11 inherited cancer-predisposing syndrome 10.0
12 overgrowth syndrome 10.0

Graphical network of the top 20 diseases related to Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome:



Diseases related to Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome

Symptoms & Phenotypes for Segmental Outgrowth-Lipomatosis-Arteriovenous...

Human phenotypes related to Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arteriovenous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100026
2 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
3 venous insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0005293
4 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
5 lower limb asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0100559
6 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
7 upper limb asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0100560
8 lymphangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100764
9 excessive wrinkled skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007392
10 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
11 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
12 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
13 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
14 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
15 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
16 neoplasm of the thyroid gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0100031
17 ovarian neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100615
18 neoplasm of the breast 58 31 occasional (7.5%) Occasional (29-5%) HP:0100013
19 hamartoma 58 Frequent (79-30%)

Drugs & Therapeutics for Segmental Outgrowth-Lipomatosis-Arteriovenous...

Search Clinical Trials , NIH Clinical Center for Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome

Genetic Tests for Segmental Outgrowth-Lipomatosis-Arteriovenous...

Anatomical Context for Segmental Outgrowth-Lipomatosis-Arteriovenous...

MalaCards organs/tissues related to Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome:

40
Bone, Heart, Thyroid, Breast

Publications for Segmental Outgrowth-Lipomatosis-Arteriovenous...

Articles related to Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome:

# Title Authors PMID Year
1
Genetic basis for vascular anomalies. 61
27607321 2016
2
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 61
17392703 2007

Variations for Segmental Outgrowth-Lipomatosis-Arteriovenous...

Expression for Segmental Outgrowth-Lipomatosis-Arteriovenous...

Search GEO for disease gene expression data for Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome.

Pathways for Segmental Outgrowth-Lipomatosis-Arteriovenous...

GO Terms for Segmental Outgrowth-Lipomatosis-Arteriovenous...

Sources for Segmental Outgrowth-Lipomatosis-Arteriovenous...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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