MCID: ANG029
MIFTS: 23

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 57 53 73
Angio Serpiginosum 57 13
Angioma Serpiginosum 53

Characteristics:

OMIM:

57
Miscellaneous:
slowly progressive
partially responsive to laser treatment
onset at birth

Inheritance:
x-linked dominant


HPO:

32
angioma serpiginosum, x-linked:
Onset and clinical course congenital onset slow progression
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 300652
MedGen 42 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)

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 skin, endothelial and breast, 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 11.5

Symptoms & Phenotypes for Angioma Serpiginosum, X-Linked

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Angioma Serpiginosum, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 fine hair 32 HP:0002213
3 sparse hair 32 HP:0008070
4 nail dystrophy 32 HP:0008404

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:

41
Skin, Endothelial, Breast

Publications for Angioma Serpiginosum, X-Linked

Articles related to Angioma Serpiginosum, X-Linked:

(show top 50) (show all 68)
# Title Authors Year
1
A 13-Year-Old Presenting With Recurrent Angioma Serpiginosum. ( 29421924 )
2018
2
Blaschkoid Angioma Serpiginosum: A Dermoscopic Diagnosis. ( 29644203 )
2018
3
Angioma serpiginosum in a bilateral distribution with acral involvement: An uncommon presentation. ( 29547138 )
2018
4
Angioma Serpiginosum ( 29083693 )
2017
5
Angioma Serpiginosum in a Patchy and Blaschkoid Distribution: A Rare Condition with an Unconventional Presentation. ( 27688454 )
2016
6
Blaschko-linear angioma serpiginosum. ( 27088948 )
2016
7
Blaschko-linear angioma serpiginosum. ( 26858066 )
2016
8
Angioma serpiginosum: A case series of 4 patients. ( 27241499 )
2016
9
Late-onset Segmental Angioma Serpiginosum. ( 27057034 )
2016
10
Clues in DeRmoscopy: dermoscopy of angioma serpiginosum. ( 27113009 )
2016
11
Angioma serpiginosum: report of two cases suggesting type 1 mosaicism and proposal of adding it to the list of mosaic skin conditions. ( 25711206 )
2015
12
Angioma serpiginosum: report of an unusual acral case and review of the literature. ( 26312666 )
2015
13
Pediatric linear scleroderma initially developed with angioma serpiginosum-like appearances. ( 25959512 )
2015
14
Successful treatment of angioma serpiginosum using a novel 532A nm potassium titanyl phosphate (KTP) laser. ( 25297653 )
2014
15
Dermoscopy of angioma serpiginosum: a case report. ( 24738719 )
2014
16
Dermoscopy of acral angioma serpiginosum. ( 25756486 )
2014
17
Late onset angioma serpiginosum of the breast with co-existing cherry angioma. ( 25165654 )
2014
18
Reflectance confocal microscopy features of angioma serpiginosum. ( 21768499 )
2011
19
Pulsed-dye laser treatment of angioma serpiginosum. ( 19077096 )
2009
20
Angioma serpiginosum is not caused by PORCN mutations. ( 19337307 )
2009
21
Association of angiokeratoma of the vulva with angioma serpiginosum. ( 19112804 )
2008
22
Angioma serpiginosum with sole involvement. ( 18955205 )
2008
23
Atypical angioma serpiginosum. ( 18581605 )
2008
24
An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation. ( 18478042 )
2008
25
Angioma serpiginosum with linear distribution: case report and review of the literature. ( 18627698 )
2008
26
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. ( 17342156 )
2007
27
Angioma serpiginosum with extensive lesions associated with retinal vein occlusion. ( 17033185 )
2006
28
Angioma serpiginosum: dermoscopy for diagnosis, pulsed dye laser for treatment. ( 16674788 )
2006
29
Absence of estrogen and progesterone receptors around the affected vessels of angioma serpiginosum: case report. ( 17173473 )
2006
30
Angioma serpiginosum arranged in a systematized segmental pattern suggesting mosaicism. ( 17033175 )
2006
31
Angioma serpiginosum: report of two unusual cases. ( 15649209 )
2005
32
Angioma serpiginosum with retinal involvement in a male: a possible aetiological role of continuous cold exposure. ( 15009324 )
2004
33
Angioma serpiginosum: a case report. ( 15569018 )
2004
34
Linear angioma serpiginosum. ( 12657019 )
2003
35
Angioma serpiginosum. ( 12952766 )
2003
36
Angioma serpiginosum with extensive cutaneous involvement. ( 10640940 )
2000
37
Angioma serpiginosum: a report of 2 cases identified using epiluminescence microscopy. ( 10566835 )
1999
38
Treatment of angioma serpiginosum using a pulsed tunable dye laser. ( 9155976 )
1997
39
Angioma serpiginosum: a simulator of purpura. ( 1800966 )
1991
40
Atypical angioma serpiginosum: a case report. ( 7095223 )
1982
41
Angioma serpiginosum. ( 7451703 )
1980
42
Angioma serpiginosum--familial incidence. ( 1220816 )
1975
43
Some new observations on the genesis of angioma serpiginosum. ( 4103031 )
1971
44
Ocular and nervous system involvement in angioma serpiginosum. ( 5557519 )
1971
45
Angioma serpiginosum. ( 6016302 )
1967
46
Angioma serpiginosum, a comparative study. ( 5846315 )
1965
47
Angioma serpiginosum. ( 13460171 )
1957
48
Two cases of angioma serpiginosum. ( 13018995 )
1953
49
Two cases of angioma serpiginosum. ( 13003979 )
1952
50
A case for diagnosis; angioma serpiginosum (Hutchinson's infectious angioma?); purpura annularis telangiectodes (Majocchi?). ( 14867925 )
1951

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 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
Content
Loading form....