MCID: PHC006
MIFTS: 28

Phacomatosis Pigmentovascularis malady

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

Aliases & Classifications for Phacomatosis Pigmentovascularis

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Sources:
45NIH Rare Diseases, 51Orphanet, 2CDC, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Phacomatosis Pigmentovascularis:

Name: Phacomatosis Pigmentovascularis 45
Phakomatosis Pigmentovascularis 45 51
 
Ppv 45 2
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 45

Classifications:



External Ids:

Orphanet51 2875
ICD10 via Orphanet28 Q85.8

Summaries for Phacomatosis Pigmentovascularis

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NIH Rare Diseases:45 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 hypopigmented skin patches, cerebral cortical atrophy and paresthesia. Affiliated tissues include skin, bone and eye.

Wikipedia:68 Phakomatosis pigmentovascularis refers to the coexistence of a capillary malformation (port-wine stain)... more...

Related Diseases for Phacomatosis Pigmentovascularis

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



Diseases related to phacomatosis pigmentovascularis

Symptoms for Phacomatosis Pigmentovascularis

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Symptoms:

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

HPO human phenotypes related to Phacomatosis Pigmentovascularis:

(show all 13)
id Description Frequency HPO Source Accession
1 hypopigmented skin patches hallmark (90%) HP:0001053
2 cerebral cortical atrophy hallmark (90%) HP:0002120
3 paresthesia hallmark (90%) HP:0003401
4 reduced bone mineral density hallmark (90%) HP:0004349
5 generalized hyperpigmentation hallmark (90%) HP:0007440
6 arteriovenous malformation hallmark (90%) HP:0100026
7 glaucoma typical (50%) HP:0000501
8 seizures typical (50%) HP:0001250
9 eeg abnormality typical (50%) HP:0002353
10 cerebral calcification typical (50%) HP:0002514
11 cognitive impairment typical (50%) HP:0100543
12 facial asymmetry occasional (7.5%) HP:0000324
13 blue sclerae occasional (7.5%) HP:0000592

Drugs & Therapeutics for Phacomatosis Pigmentovascularis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Phacomatosis Pigmentovascularis

Genetic Tests for Phacomatosis Pigmentovascularis

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Anatomical Context for Phacomatosis Pigmentovascularis

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MalaCards organs/tissues related to Phacomatosis Pigmentovascularis:

33
Skin, Bone, Eye, Kidney, Lung, Neutrophil, Brain

Animal Models for Phacomatosis Pigmentovascularis or affiliated genes

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Publications for Phacomatosis Pigmentovascularis

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Articles related to Phacomatosis Pigmentovascularis:

(show all 42)
idTitleAuthorsYear
1
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. (26059845)
2015
2
Vascular Endothelial Growth Factor: a potential diagnostic biomarker for major depression. (25193461)
2014
3
Bach1 Overexpression in Down Syndrome Correlates with the Alteration of the HO-1/BVR-A System: Insights for Transition to Alzheimer's Disease. (25391381)
2014
4
Bevacizumab for macular edema secondary to retinal vein occlusion: a systematic review and meta-analysis. (23746130)
2013
5
Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate. (23637625)
2013
6
PRMT5 is upregulated in malignant and metastatic melanoma and regulates expression of MITF and p27(Kip1.). (24098663)
2013
7
Solitary rectal ulcer syndrome presenting a polypoid mass lesions in a female patient. (24557976)
2013
8
Relationship between urinary dysfunction and clinical factors in patients with traumatic brain injury. (24377376)
2013
9
Successful treatment with anti-tumor necrosis factor (anti-TNF)-alpha of proteinuria in a patient with familial mediterranean fever (FMF) resistant to colchicine: anti-TNF drugs and FMF. (21431291)
2012
10
Upregulation of Hsp90-beta and annexin A1 correlates with poor survival and lymphatic metastasis in lung cancer patients. (22929401)
2012
11
Dysphagia due to Retropharyngeal Abscess that Incidentally Detected in Subarachnoid Hemorrhage Patient. (23342321)
2012
12
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. (23000146)
2012
13
Circulating IGF-I is associated with fitness and health outcomes in a population of 846 young healthy men. (21459641)
2011
14
The in vitro antimicrobial activities of metabolites from lactobacillus strains on Candida species implicated in Candida vaginitis. (22589669)
2011
15
Serum cystatin C is an early predictive biomarker of acute kidney injury after pediatric cardiopulmonary bypass. (20538834)
2010
16
Conserved domains of the class A scavenger receptors: evolution and function. (19120472)
2009
17
Dedifferentiated retroperitoneal liposarcoma presenting as lower gastrointestinal bleeding, a case report and review of the literature. (19354103)
2009
18
The FTO gene rs9939609 obesity-risk allele and loss of control over eating. (19828706)
2009
19
Rapidly degradable hydroxyethyl starch solutions impair blood coagulation after cardiac surgery: a prospective randomized trial. (19095827)
2009
20
Cytologic findings of primary thyroid MALT lymphoma with extreme plasma cell differentiation: FNA cytology of two cases. (19526579)
2009
21
Topical treatment of bowenoid papulosis of the penis with imiquimod. (19207667)
2009
22
Role of HLA-G in innate immunity through direct activation of NF-kappaB in natural killer cells. (17675239)
2008
23
Neutrophil gelatinase-associated lipocalin (NGAL): a new marker of kidney disease. (18569973)
2008
24
Critical illness polyneuropathy following childhood appendicitis. (18665371)
2008
25
Simvastatin attenuates release of neutrophilic and remodeling factors from primary bronchial epithelial cells derived from stable lung transplant recipients. (18203812)
2008
26
Metabolism of diacylglycerol in humans. (17392138)
2007
27
Preparation of novel immunomagnetic cellulose microspheres via cellulose binding domain-protein A linkage and its use for the isolation of interferon alpha-2b. (17391680)
2007
28
Dynamic positive feedback phosphorylation of mixed lineage kinase 3 by JNK reversibly regulates its distribution to Triton-soluble domains. (16687404)
2006
29
Transport characteristics of mammalian Rh and Rh glycoproteins expressed in heterologous systems. (16563829)
2006
30
The identification of three novel MICA alleles by sequence-based typing. (16634869)
2006
31
HLA-DQA1 introns 2 and 3 sequencing: DQA1 sequencing-based typing and characterization of a highly polymorphic microsatellite at intron 3 of DQA1*0505. (16216675)
2005
32
Carlos Finlay and yellow fever: triumph over adversity. (16435764)
2005
33
Glutamic acid decarboxylase autoantibody prevalence and association with HLA genotype in patients with younger-onset type 1 diabetes and proliferative diabetic retinopathy. (16157380)
2005
34
Biochemical characterization of the high affinity binding between the glycine receptor and gephyrin. (14976213)
2004
35
Loading of the human 9-1-1 checkpoint complex onto DNA by the checkpoint clamp loader hRad17-replication factor C complex in vitro. (12578958)
2003
36
Indirect evidence for decreased hypothalamic somatostatinergic tone in anorexia nervosa. (11940052)
2002
37
Molecular defects in achondroplasia and the effects of growth hormone treatment. (10102070)
1999
38
A novel mutation identified in carnitine palmitoyltransferase II deficiency. (9562964)
1998
39
Bone-mineral density in children and adolescents who have spastic cerebral palsy. (7593076)
1995
40
Tularemia: a differential diagnosis in oto-rhino-laryngology. (8496644)
1993
41
Increase in T3 levels during hypocorticism in patients with chronic secondary adrenocortical insufficiency. (1317631)
1992
42
The relationship between Blount's disease and bow legs. (5639619)
1968

Variations for Phacomatosis Pigmentovascularis

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Expression for genes affiliated with Phacomatosis Pigmentovascularis

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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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GO Terms for genes affiliated with Phacomatosis Pigmentovascularis

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Sources for Phacomatosis Pigmentovascularis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet