PPV
MCID: PHC006
MIFTS: 23

Phacomatosis Pigmentovascularis (PPV) malady

Eye diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Summaries for Phacomatosis Pigmentovascularis

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42NIH Rare Diseases, 3CDC, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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: Phacomatosis Pigmentovascularis, also known as phakomatosis pigmentovascularis, is related to mongolian spot and glaucoma, and has symptoms including iris melanosis/ocular melanosis, blue sclerae and diffuse/generalised skin hyperpigmentation/melanoderma. Affiliated tissues include skin and eye.

CDC:3 What You Should Know

Wikipedia:63 Phakomatosis pigmentovascularis refers to the coexistence of a capillary malformation (port-wine stain)... more...

Aliases & Classifications for Phacomatosis Pigmentovascularis

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42NIH Rare Diseases, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Cardiovascular diseases, Skin diseases


Aliases & Descriptions:

phacomatosis pigmentovascularis 42
phakomatosis pigmentovascularis 42 48
association of cutaneous vascular malformations and different pigmentary disorders 42
ppv 42


External Ids:

ICD10 via Orphanet26 Q85.8

Related Diseases for Phacomatosis Pigmentovascularis

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17GeneCards, 18GeneDecks
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Diseases related to Phacomatosis Pigmentovascularis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1mongolian spot10.4
2glaucoma10.4
3melanoma10.4
4alopecia10.2
5hypertension10.2
6malignant hypertension10.2
7phakomatosis cesioflammea10.2
8phakomatosis cesiomarmorata10.2
9phakomatosis spilorosea10.2
10klippel-trenaunay syndrome10.2
11choroiditis10.2
12esophagitis10.2
13hydrocephalus10.2
14polycythemia vera10.0
15erysipelas10.0
16primary polycythemia10.0
17macular holes10.0
18myelofibrosis10.0

Graphical network of diseases related to Phacomatosis Pigmentovascularis:



Diseases related to phacomatosis pigmentovascularis

Clinical Features for Phacomatosis Pigmentovascularis

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48Orphanet
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Symptoms:

48 (show all 16)
  • iris melanosis/ocular melanosis
  • blue sclerae
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • glaucoma
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • irregular/patchy skin hypopigmentation
  • follicular/erythematous/edematous papules/milium
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • intracranial/cerebral calcifications
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • eeg anomalies
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy

Drugs & Therapeutics for Phacomatosis Pigmentovascularis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Phacomatosis Pigmentovascularis

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Anatomical Context for Phacomatosis Pigmentovascularis

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32MalaCards
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MalaCards organs/tissues related to Phacomatosis Pigmentovascularis:

32
Skin, Eye

Animal Models for Phacomatosis Pigmentovascularis or affiliated genes

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Publications for Phacomatosis Pigmentovascularis

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Genetic Variations for Phacomatosis Pigmentovascularis

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Expression for genes affiliated with Phacomatosis Pigmentovascularis

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15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Phacomatosis Pigmentovascularis.

Pathways for genes affiliated with Phacomatosis Pigmentovascularis

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Compounds for genes affiliated with Phacomatosis Pigmentovascularis

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GO Terms for genes affiliated with Phacomatosis Pigmentovascularis

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Products for genes affiliated with Phacomatosis Pigmentovascularis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phacomatosis Pigmentovascularis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet