MCID: SGM010
MIFTS: 20

Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome

Categories: Cardiovascular diseases, Skin diseases, Fetal diseases, Rare 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 59
Solamen Syndrome 59

Classifications:



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 nevus, epidermal and arteriovenous malformation. An important gene associated with Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include skin, thyroid and heart, and related phenotypes are macrocephaly 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:

# Related Disease Score Top Affiliating Genes
1 nevus, epidermal 9.9
2 arteriovenous malformation 9.9
3 lipomatosis 9.9

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

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

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
3 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
4 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
5 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
6 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
7 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
8 venous insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005293
9 excessive wrinkled skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0007392
10 neoplasm of the breast 59 32 occasional (7.5%) Occasional (29-5%) HP:0100013
11 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
12 neoplasm of the thyroid gland 59 32 occasional (7.5%) Occasional (29-5%) HP:0100031
13 lower limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100559
14 upper limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100560
15 ovarian neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100615
16 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
17 lymphangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100764
18 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
19 hamartoma 59 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:

41
Skin, Thyroid, Heart, Bone

Publications for Segmental Outgrowth-Lipomatosis-Arteriovenous...

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

# Title Authors Year
1
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. ( 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 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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