MCID: PHC004
MIFTS: 30

Phace Syndrome malady

Categories: Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Phace Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Phace Syndrome:

Name: Phace Syndrome 45 51
Phace Association 45 65
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 45
Pascual-Castroviejo Type Ii Syndrome 45
 
Pascual-Castroviejo Syndrome Type 2 51
Phaces Association 45
P-Ciis 45

Characteristics:

Orphanet epidemiological data:

51
phace syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 42775
ICD10 via Orphanet28 Q28.8
UMLS via Orphanet66 C2242617
UMLS65 C1847874

Summaries for Phace Syndrome

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NIH Rare Diseases:45 Phace syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects.  people with phace syndrome may have posterior fossa brain malformations, hemangioma, arterial lesions (blood vessel abnormalities in the head or neck), cardiac (heart) abnormalities/aortic coarctation, and eye abnormalities. symptoms and symptom severity may vary from person to person. the cause of the condition is currently unknown. it affects girls much more often than boys. last updated: 11/14/2012

MalaCards based summary: Phace Syndrome, also known as phace association, is related to colorectal cancer and leukemia, and has symptoms including capillary hemangioma/nevus/naevus flammeus/port-wine stain, anophthalmos/anophthalmia/microphthalmos/microphthalmia and glaucoma. Affiliated tissues include eye, brain and heart.

Related Diseases for Phace Syndrome

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Graphical network of the top 20 diseases related to Phace Syndrome:



Diseases related to phace syndrome

Symptoms for Phace Syndrome

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Symptoms:

 51 (show all 28)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • glaucoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cardiac septal defect
  • dandy-walker anomaly
  • microcephaly
  • aniridia/iris hypoplasia
  • coloboma of iris
  • sclerocornea
  • cataract/lens opacification
  • coloboma of the lens
  • retinal vascular anomalies/retinal telangiectasia
  • sternal/sternum anomalies
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • aortic root dilatation/dilation/aneurysm
  • carotid artery anomalies
  • visceral angiomatosis (excluding skin)
  • aortic arches anomalies
  • ectopic/agenesis/dysgenesis/hypoplastic thyroid
  • hypothyroidy
  • corpus callosum/septum pellucidum total/partial agenesis
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

Drugs & Therapeutics for Phace Syndrome

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Drugs for Phace Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Dermatologic Agents4555

Interventional clinical trials:

idNameStatusNCT IDPhase
1Hemangioma Associated With High Rates of MorbidityCompletedNCT00394888
2Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)RecruitingNCT01016756
3Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE SyndromeActive, not recruitingNCT01018082

Search NIH Clinical Center for Phace Syndrome

Genetic Tests for Phace Syndrome

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Anatomical Context for Phace Syndrome

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MalaCards organs/tissues related to Phace Syndrome:

33
Eye, Brain, Heart, Thyroid, Cerebellum, Skin, Lung

Animal Models for Phace Syndrome or affiliated genes

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Publications for Phace Syndrome

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Articles related to Phace Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Diagnostic and prognostic utility of tissue factor for severe sepsis and sepsis-induced acute lung injury. (26025445)
2015
2
Characterizing pharmacological ligands to study the long-chain fatty acid receptors GPR40/FFA1 and GPR120/FFA4. (25131623)
2015
3
Surgical Treatment of Spinal Deformity in Patients With CLOVES Syndrome: A Report of 4 Cases. (25393573)
2014
4
Safety and immunogenicity of modified vaccinia Ankara in hematopoietic stem cell transplant recipients: a randomized, controlled trial. (23482644)
2013
5
Management of periocular basal cell carcinoma by Mohs micrographic surgery. (22551161)
2013
6
Long-term outcome of antineutrophil cytoplasmic antibody-associated small vessel vasculitis after renal transplantation. (23421384)
2013
7
Systemic dysregulation of TDP-43 binding microRNAs in amyotrophic lateral sclerosis. (24252274)
2013
8
Lessons learned from recent randomized clinical trials for intermittent claudication. (22511735)
2012
9
Eating disorders in adult women. For some, aging may bring on--or rekindle--an eating disorder. (22474708)
2012
10
An unusual presence of primary retention of permanent teeth in subject with hyperthyroidism. (22210461)
2011
11
What is AIDS in the Amazon and the Guianas? Establishing the burden of disseminated histoplasmosis. (21292891)
2011
12
Beclin-1 and LC3A expression in cutaneous malignant melanomas: a biphasic survival pattern for beclin-1. (21537144)
2011
13
Mast cells, peptides and cardioprotection - an unlikely marriage? (19566747)
2009
14
Targeted lipidomics reveals mPGES-1-PGE2 as a therapeutic target for multiple sclerosis. (19995978)
2009
15
Three brothers of X-linked agammaglobulinemia: the relation between phenotype and neutropenia. (19533271)
2009
16
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. (18301448)
2008
17
Determinants of success in national programs to eliminate lymphatic filariasis: a perspective identifying essential elements and research needs. (18840733)
2008
18
Rapid change in plaque size, composition, and molecular footprint after recombinant apolipoprotein A-I Milano (ETC-216) administration: magnetic resonance imaging study in an experimental model of atherosclerosis. (18342230)
2008
19
Sympathetic overactivity and plasma leptin levels in Rett syndrome. (18226448)
2008
20
The absence of human equilibrative nucleoside transporter 1 expression predicts nonresponse to gemcitabine-containing chemotherapy in non-small cell lung cancer. (17658213)
2007
21
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. (17308087)
2007
22
Angiotensin-converting enzyme I/D polymorphism and macrovascular disease in systemic sclerosis. (17264090)
2007
23
Lichen planus-like keratosis of the face: a simulator of melanoma in situ. (17598855)
2007
24
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. (17000989)
2006
25
Genetic correlates in trichotillomania--A case-control association study in the South African Caucasian population. (16910371)
2006
26
An essential role for Akt1 in dendritic cell function and tumor immunotherapy. (17143278)
2006
27
Highly selective and potent agonists of sphingosine-1-phosphate 1 (S1P1) receptor. (16682185)
2006
28
A functional association between merlin and HEI10, a cell cycle regulator. (16532029)
2006
29
Conversion disorder presenting as hemiplegia and hemianesthesia with loss of neurologic reflexes: a case report. (16634248)
2006
30
Gitelman syndrome. (16580616)
2006
31
Genetic association of apoE and apoCI gene polymorphisms with coronary heart disease]. (15769335)
2004
32
Hereditary spherocytosis. (15121908)
2004
33
Synaptotagmin I, a Ca2+ sensor for neurotransmitter release. (12900172)
2003
34
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? (11675411)
2001
35
IRS-1 tyrosine phosphorylation reflects insulin-induced metabolic and mitogenic responses in 3T3-L1 pre-adipocytes. (11471071)
2001
36
GDF-8 propeptide binds to GDF-8 and antagonizes biological activity by inhibiting GDF-8 receptor binding. (11519824)
2001
37
Multidrug-resistant tuberculosis iliopsoas abscess. (17322741)
2000
38
Interactions between pesticides and glia: an unexplored experimental field. (10794397)
2000
39
Noninvasive assessment of myocardial stunning from short-term coronary occlusion using tagged magnetic resonance imaging. (11545128)
2000
40
Structure of the skeletal muscle calcium release channel activated with Ca2+ and AMP-PCP. (10512814)
1999
41
Ribosomal S6 kinase signaling and the control of translation. (10579915)
1999
42
No 'Stinkefinger' and renal failure--do you see a link? Diagnosis: acrorenal syndrome. (10534529)
1999
43
Regulation of the synthesis of brain metallothioneins. (9745926)
1998
44
Gene therapy for inherited neurological disorders: towards therapeutic intervention in the Lesch-Nyhan syndrome. (9932427)
1998
45
Treatment of anemia in myelodysplastic syndromes with granulocyte colony-stimulating factor plus erythropoietin: results from a randomized phase II study and long-term follow-up of 71 patients. (9639501)
1998
46
Long-term inhibition of murine experimental autoimmune encephalomyelitis using CTLA-4-Fc supports a key role for CD28 costimulation. (7539461)
1995
47
Facilitative glucose transporters. (8112322)
1994
48
Human small intestinal angiotensin-converting enzyme: intracellular transport, secretion and glycosylation. (8280058)
1993
49
Growth control of cultured microglia. (1333539)
1992
50
Survival in traumatic transverse myelitis. (846754)
1977

Variations for Phace Syndrome

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Expression for genes affiliated with Phace Syndrome

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Search GEO for disease gene expression data for Phace Syndrome.

Pathways for genes affiliated with Phace Syndrome

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GO Terms for genes affiliated with Phace Syndrome

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Sources for Phace Syndrome

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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