MCID: ANG029
MIFTS: 26

Angioma Serpiginosum, X-Linked

Categories: Rare diseases

Aliases & Classifications for Angioma Serpiginosum, X-Linked

MalaCards integrated aliases for Angioma Serpiginosum, X-Linked:

Name: Angioma Serpiginosum, X-Linked 58 54 74
Angio Serpiginosum 58 13
Angioma Serpiginosum 54

Characteristics:

OMIM:

58
Miscellaneous:
slowly progressive
partially responsive to laser treatment
onset at birth

Inheritance:
x-linked dominant


HPO:

33
angioma serpiginosum, x-linked:
Onset and clinical course congenital onset slow progression
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 58 300652
MedGen 43 C0263637
UMLS 74 C0263637

Summaries for Angioma Serpiginosum, X-Linked

OMIM : 58 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)

MalaCards based summary : Angioma Serpiginosum, X-Linked, also known as angio serpiginosum, is related to angioma serpiginosum, autosomal dominant and 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 skin, endothelial and breast, and related phenotypes are hyperkeratosis and nail dystrophy

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, autosomal dominant 12.7
2 angioma serpiginosum 11.7
3 purpura 10.3
4 focal dermal hypoplasia 10.2
5 retinal vein occlusion 10.2
6 skin conditions 10.2
7 skin disease 10.2
8 angiokeratoma 10.2
9 linear scleroderma 10.2

Graphical network of the top 20 diseases related to Angioma Serpiginosum, X-Linked:



Diseases related to Angioma Serpiginosum, X-Linked

Symptoms & Phenotypes for Angioma Serpiginosum, X-Linked

Human phenotypes related to Angioma Serpiginosum, X-Linked:

33
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 33 HP:0000962
2 nail dystrophy 33 HP:0008404
3 fine hair 33 HP:0002213
4 sparse hair 33 HP:0008070

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
hyperkeratosis
nests of dilated and thick-walled capillaries in the dermal papillae
inflammation is usually absent

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
Skin Nails Hair Hair:
thin, sparse hair

Skin Nails Hair Nails:
dystrophic nails, mild

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

Abdomen Gastrointestinal:
benign esophageal papillomas

Clinical features from OMIM:

300652

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:

42
Skin, Endothelial, Breast

Publications for Angioma Serpiginosum, X-Linked

Articles related to Angioma Serpiginosum, X-Linked:

(show top 50) (show all 71)
# Title Authors Year
1
Acral angioma serpiginosum: Clinicopathologic and dermoscopic presentation. ( 30767198 )
2019
2
Post-zygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum. ( 30801665 )
2019
3
A 13-Year-Old Presenting With Recurrent Angioma Serpiginosum. ( 29421924 )
2018
4
Blaschkoid Angioma Serpiginosum: A Dermoscopic Diagnosis. ( 29644203 )
2018
5
Angioma serpiginosum in a bilateral distribution with acral involvement: An uncommon presentation. ( 29547138 )
2018
6
Differentiation of acquired port wine stain and angioma serpiginosum: a dermoscopic perspective. ( 30478941 )
2018
7
Angioma Serpiginosum ( 29083693 )
2017
8
Angioma Serpiginosum in a Patchy and Blaschkoid Distribution: A Rare Condition with an Unconventional Presentation. ( 27688454 )
2016
9
Blaschko-linear angioma serpiginosum. ( 27088948 )
2016
10
Blaschko-linear angioma serpiginosum. ( 26858066 )
2016
11
Angioma serpiginosum: A case series of 4 patients. ( 27241499 )
2016
12
Late-onset Segmental Angioma Serpiginosum. ( 27057034 )
2016
13
Clues in DeRmoscopy: dermoscopy of angioma serpiginosum. ( 27113009 )
2016
14
Angioma serpiginosum: report of two cases suggesting type 1 mosaicism and proposal of adding it to the list of mosaic skin conditions. ( 25711206 )
2015
15
Angioma serpiginosum: report of an unusual acral case and review of the literature. ( 26312666 )
2015
16
Pediatric linear scleroderma initially developed with angioma serpiginosum-like appearances. ( 25959512 )
2015
17
Successful treatment of angioma serpiginosum using a novel 532A nm potassium titanyl phosphate (KTP) laser. ( 25297653 )
2014
18
Dermoscopy of angioma serpiginosum: a case report. ( 24738719 )
2014
19
Dermoscopy of acral angioma serpiginosum. ( 25756486 )
2014
20
Late onset angioma serpiginosum of the breast with co-existing cherry angioma. ( 25165654 )
2014
21
Reflectance confocal microscopy features of angioma serpiginosum. ( 21768499 )
2011
22
Pulsed-dye laser treatment of angioma serpiginosum. ( 19077096 )
2009
23
Angioma serpiginosum is not caused by PORCN mutations. ( 19337307 )
2009
24
Association of angiokeratoma of the vulva with angioma serpiginosum. ( 19112804 )
2008
25
Angioma serpiginosum with sole involvement. ( 18955205 )
2008
26
Atypical angioma serpiginosum. ( 18581605 )
2008
27
An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation. ( 18478042 )
2008
28
Angioma serpiginosum with linear distribution: case report and review of the literature. ( 18627698 )
2008
29
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. ( 17342156 )
2007
30
Angioma serpiginosum with extensive lesions associated with retinal vein occlusion. ( 17033185 )
2006
31
Angioma serpiginosum: dermoscopy for diagnosis, pulsed dye laser for treatment. ( 16674788 )
2006
32
Absence of estrogen and progesterone receptors around the affected vessels of angioma serpiginosum: case report. ( 17173473 )
2006
33
Angioma serpiginosum arranged in a systematized segmental pattern suggesting mosaicism. ( 17033175 )
2006
34
Angioma serpiginosum: report of two unusual cases. ( 15649209 )
2005
35
Angioma serpiginosum with retinal involvement in a male: a possible aetiological role of continuous cold exposure. ( 15009324 )
2004
36
Angioma serpiginosum: a case report. ( 15569018 )
2004
37
Linear angioma serpiginosum. ( 12657019 )
2003
38
Angioma serpiginosum. ( 12952766 )
2003
39
Angioma serpiginosum with extensive cutaneous involvement. ( 10640940 )
2000
40
Angioma serpiginosum: a report of 2 cases identified using epiluminescence microscopy. ( 10566835 )
1999
41
Treatment of angioma serpiginosum using a pulsed tunable dye laser. ( 9155976 )
1997
42
Angioma serpiginosum: a simulator of purpura. ( 1800966 )
1991
43
Atypical angioma serpiginosum: a case report. ( 7095223 )
1982
44
Angioma serpiginosum. ( 7451703 )
1980
45
Angioma serpiginosum--familial incidence. ( 1220816 )
1975
46
Some new observations on the genesis of angioma serpiginosum. ( 4103031 )
1971
47
Ocular and nervous system involvement in angioma serpiginosum. ( 5557519 )
1971
48
Angioma serpiginosum. ( 6016302 )
1967
49
Angioma serpiginosum, a comparative study. ( 5846315 )
1965
50
Angioma serpiginosum. ( 13460171 )
1957

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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