MCID: PHC006
MIFTS: 31

Phacomatosis Pigmentovascularis

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

Aliases & Classifications for Phacomatosis Pigmentovascularis

MalaCards integrated aliases for Phacomatosis Pigmentovascularis:

Name: Phacomatosis Pigmentovascularis 49
Phakomatosis Pigmentovascularis 49 55
Ppv 49 3
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 49

Classifications:



External Ids:

Orphanet 55 ORPHA2875
UMLS via Orphanet 70 C1274879
ICD10 via Orphanet 33 Q85.8

Summaries for Phacomatosis Pigmentovascularis

NIH Rare Diseases : 49 Phacomatosis pigmentovascularis (PPV) is a skin and blood vessel disorder that is present from birth. Common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi. A variety of classification systems have been proposed for PPV, largely depending on what type of pigmentary lesion is present. Around half of individuals with PPV have systemic disease, meaning that body systems other than the skin are affected. Systemic symptoms can vary greatly from person to person. PPV is not inherited, but is thought to be caused by a genetic phenomenon called twin spotting. Last updated: 2/1/2011

MalaCards based summary : Phacomatosis Pigmentovascularis, also known as phakomatosis pigmentovascularis, is related to phakomatosis cesioflammea and phakomatosis cesiomarmorata, and has symptoms including facial asymmetry, glaucoma and blue sclerae. An important gene associated with Phacomatosis Pigmentovascularis is GNAQ (G Protein Subunit Alpha Q). Affiliated tissues include skin, bone and eye.

Wikipedia : 72 Phakomatosis pigmentovascularis is a rare neurocutanous condition where there is coexistence of a... more...

Related Diseases for Phacomatosis Pigmentovascularis

Diseases related to Phacomatosis Pigmentovascularis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 phakomatosis cesioflammea 11.2
2 phakomatosis cesiomarmorata 11.2
3 phakomatosis spilorosea 11.2
4 mongolian spot 10.4
5 tièche-jadassohn nevus 10.4
6 melanoma 10.3
7 sturge-weber syndrome 10.3
8 cutis marmorata telangiectatica congenita 10.3
9 weber syndrome 10.3
10 choroiditis 10.2
11 esophagitis 10.0
12 blood group, i system 10.0
13 klippel-trenaunay-weber syndrome 10.0
14 nevus anemicus 10.0
15 melanosis, neurocutaneous 10.0
16 pyogenic granuloma 10.0
17 hydrocephalus 10.0
18 immunoglobulin alpha deficiency 10.0
19 esophageal varix 10.0
20 angiomatosis 10.0
21 nevus of ota 10.0
22 macular holes 10.0
23 intermediate uveitis 9.8
24 uveitis 9.8
25 essential thrombocythemia 9.8
26 retinal detachment 9.8
27 retinitis 9.8
28 endophthalmitis 9.8
29 myelofibrosis 9.8
30 polycythemia 9.8
31 polycythemia vera 9.8
32 erysipelas 9.8

Graphical network of the top 20 diseases related to Phacomatosis Pigmentovascularis:



Diseases related to Phacomatosis Pigmentovascularis

Symptoms & Phenotypes for Phacomatosis Pigmentovascularis

Human phenotypes related to Phacomatosis Pigmentovascularis:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
2 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
3 blue sclerae 55 31 occasional (7.5%) Occasional (29-5%) HP:0000592
4 nevus flammeus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001052
5 hypopigmented skin patches 55 31 hallmark (90%) Very frequent (99-80%) HP:0001053
6 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
7 cerebral cortical atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002120
8 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
9 cerebral calcification 55 31 frequent (33%) Frequent (79-30%) HP:0002514
10 paresthesia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003401
11 reduced bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0004349
12 generalized hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007440
13 arteriovenous malformation 55 31 hallmark (90%) Very frequent (99-80%) HP:0100026
14 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543

Drugs & Therapeutics for Phacomatosis Pigmentovascularis

Search Clinical Trials , NIH Clinical Center for Phacomatosis Pigmentovascularis

Genetic Tests for Phacomatosis Pigmentovascularis

Anatomical Context for Phacomatosis Pigmentovascularis

MalaCards organs/tissues related to Phacomatosis Pigmentovascularis:

38
Skin, Bone, Eye, Brain

Publications for Phacomatosis Pigmentovascularis

Articles related to Phacomatosis Pigmentovascularis:

(show all 50)
# Title Authors Year
1
Phacomatosis Pigmentovascularis: Simple Presentation of a Not So Simple Dermatological Condition. ( 29067825 )
2017
2
A Case of Phacomatosis Pigmentovascularis Type IIa in a Korean Infant. ( 28966526 )
2017
3
Phacomatosis pigmentovascularis: Report of four new cases. ( 27025281 )
2016
4
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. ( 27051820 )
2016
5
Phacomatosis pigmentovascularis: Report of four new cases. ( 27088932 )
2016
6
Choroidal melanoma in phacomatosis pigmentovascularis cesioi-8ammea. ( 26858045 )
2016
7
Choroidal melanoma in phacomatosis pigmentovascularis cesioflflammea. ( 27088950 )
2016
8
Phacomatosis pigmentovascularis of cesioflammea type. ( 28300894 )
2016
9
A Neonatal Case of Phacomatosis Pigmentovascularis Type IIa. ( 25759788 )
2015
10
Phacomatosis pigmentovascularis with Raynaud's phenomena. ( 26265803 )
2015
11
Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. ( 26498915 )
2015
12
Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. ( 26158369 )
2015
13
Phacomatosis Pigmentovascularis Type Vb in a Three-Year Old Boy. ( 26082606 )
2015
14
Phacomatosis pigmentovascularis. ( 26513083 )
2015
15
The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis. ( 26312661 )
2015
16
Phacomatosis pigmentovascularis. ( 26513082 )
2015
17
Vascular malformation and common keratinocytic nevus of the soft type: phacomatosis pigmentovascularis revisited. ( 25506441 )
2014
18
Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis. ( 25251688 )
2014
19
Phacomatosis pigmentovascularis type IIB associated with Sturge-Weber syndrome: a case report and review of the literature. ( 24032298 )
2013
20
Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis. ( 24019387 )
2013
21
Fluorescein angiography findings in phacomatosis pigmentovascularis. ( 23413944 )
2013
22
Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports. ( 23445899 )
2013
23
Phacomatosis pigmentovascularis type IIa - case report. ( 24346888 )
2013
24
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. ( 23769789 )
2013
25
Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report. ( 24077274 )
2013
26
Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. ( 22713702 )
2012
27
Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. ( 21670341 )
2011
28
Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? ( 22020813 )
2011
29
Birthmarks: phacomatosis pigmentovascularis. ( 22171874 )
2011
30
Skull base tumor in a patient with phacomatosis pigmentovascularis. ( 21995962 )
2011
31
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. ( 20186807 )
2010
32
Glaucoma associated with phacomatosis pigmentovascularis. ( 20128546 )
2010
33
Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. ( 20609155 )
2010
34
Phacomatosis pigmentovascularis type Va in a 3-month old. ( 18429779 )
2008
35
Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb). ( 17956488 )
2007
36
A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. ( 17512229 )
2007
37
Phacomatosis pigmentovascularis type IIIb. ( 17822502 )
2007
38
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). ( 16503893 )
2006
39
Phacomatosis pigmentovascularis revisited and reclassified. ( 15781681 )
2005
40
Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. ( 14721790 )
2003
41
Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. ( 12786710 )
2003
42
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. ( 12588390 )
2003
43
Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? ( 12749070 )
2003
44
Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy. ( 10730775 )
2000
45
Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. ( 9863285 )
1998
46
Phacomatosis pigmentovascularis type II. ( 9889430 )
1998
47
Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: a further example of twin spotting? ( 9188679 )
1997
48
Phacomatosis pigmentovascularis with a selective IgA deficiency. ( 7659644 )
1995
49
A case of phacomatosis pigmentovascularis accompanied with esophageal varices due to hypoplasia of the portal veins. ( 1526436 )
1992
50
Phacomatosis pigmentovascularis: a new syndrome? Report of four cases. ( 3422849 )
1987

Variations for Phacomatosis Pigmentovascularis

ClinVar genetic disease variations for Phacomatosis Pigmentovascularis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAQ NM_002072.4(GNAQ): c.548G> A (p.Arg183Gln) single nucleotide variant Pathogenic rs397514698 GRCh37 Chromosome 9, 80412493: 80412493

Expression for Phacomatosis Pigmentovascularis

Search GEO for disease gene expression data for Phacomatosis Pigmentovascularis.

Pathways for Phacomatosis Pigmentovascularis

GO Terms for Phacomatosis Pigmentovascularis

Sources for Phacomatosis Pigmentovascularis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....