MCID: ANG029
MIFTS: 15

Angioma Serpiginosum, X-Linked

Aliases & Classifications for Angioma Serpiginosum, X-Linked

MalaCards integrated aliases for Angioma Serpiginosum, X-Linked:

Name: Angioma Serpiginosum, X-Linked 57 70
Angio Serpiginosum 57 13

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slowly progressive
partially responsive to laser treatment
onset at birth

Inheritance:
x-linked dominant


HPO:

31
angioma serpiginosum, x-linked:
Onset and clinical course slow progression congenital onset
Inheritance x-linked dominant inheritance


External Ids:

OMIM® 57 300652
MedGen 41 C4721404
UMLS 70 C0263637

Summaries for Angioma Serpiginosum, X-Linked

OMIM® : 57 Angioma serpiginosum (AS) is a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions seen histologically as capillary ectasias in the superficial papillary dermis. The lesions often follow Blaschko lines and are most commonly found in females (90%) (Blinkenberg et al., 2007). See 106050 for additional phenotypic information and possible autosomal dominant inheritance or cutaneous somatic mosaicism (Chen et al., 2006; Blinkenberg et al., 2007). (300652) (Updated 05-Apr-2021)

MalaCards based summary : Angioma Serpiginosum, X-Linked, also known as angio serpiginosum, is related to angioma serpiginosum, and has symptoms including thin, sparse hair An important gene associated with Angioma Serpiginosum, X-Linked is AGSPX (Angio Serpiginosum). Affiliated tissues include endothelial and skin, and related phenotypes are hyperkeratosis and fine hair

Related Diseases for Angioma Serpiginosum, X-Linked

Diseases related to Angioma Serpiginosum, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 angioma serpiginosum 11.4

Symptoms & Phenotypes for Angioma Serpiginosum, X-Linked

Human phenotypes related to Angioma Serpiginosum, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 fine hair 31 HP:0002213
3 sparse hair 31 HP:0008070
4 nail dystrophy 31 HP:0008404

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis
nests of dilated and thick-walled capillaries in the dermal papillae
inflammation is usually absent

Skin Nails Hair Nails:
dystrophic nails, mild

Skin Nails Hair Skin Electron Microscopy:
slit-like protrusion of capillary lumen into the endothelial lining

Skin Nails Hair Hair:
thin, sparse hair

Skin Nails Hair Skin:
non-purpuric punctate and linear erythematous rash
subepidermal capillary ectasia
lesions often follow blaschko lines
lesions occur on the trunk, back, arms, legs, abdomen, buttocks
extensive cutaneous involvement rarely occurs
more
Abdomen Gastrointestinal:
benign esophageal papillomas

Clinical features from OMIM®:

300652 (Updated 05-Apr-2021)

UMLS symptoms related to Angioma Serpiginosum, X-Linked:


thin, sparse hair

Drugs & Therapeutics for Angioma Serpiginosum, X-Linked

Search Clinical Trials , NIH Clinical Center for Angioma Serpiginosum, X-Linked

Genetic Tests for Angioma Serpiginosum, X-Linked

Anatomical Context for Angioma Serpiginosum, X-Linked

MalaCards organs/tissues related to Angioma Serpiginosum, X-Linked:

40
Endothelial, Skin

Publications for Angioma Serpiginosum, X-Linked

Articles related to Angioma Serpiginosum, X-Linked:

# Title Authors PMID Year
1
Angioma serpiginosum is not caused by PORCN mutations. 57
19337307 2009
2
An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation. 57
18478042 2008
3
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. 57
17546031 2007
4
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. 57
17342156 2007
5
Angioma serpiginosum arranged in a systematized segmental pattern suggesting mosaicism. 57
17033175 2006

Variations for Angioma Serpiginosum, X-Linked

Expression for Angioma Serpiginosum, X-Linked

Search GEO for disease gene expression data for Angioma Serpiginosum, X-Linked.

Pathways for Angioma Serpiginosum, X-Linked

GO Terms for Angioma Serpiginosum, X-Linked

Sources for Angioma Serpiginosum, X-Linked

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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