MCID: PHC004
MIFTS: 22

Phace Syndrome malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Phace Syndrome

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Aliases & Descriptions for Phace Syndrome:

Name: Phace Syndrome 46
Phace Association 46 66
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 46
 
Pascual-Castroviejo Type Ii Syndrome 46
Phaces Association 46
P-Ciis 46

Classifications:



Summaries for Phace Syndrome

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NIH Rare Diseases:46 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 hemangioma and congenital hypothyroidism, and has symptoms including seizures Affiliated tissues include brain, eye 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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UMLS symptoms related to Phace Syndrome:


seizures

Drugs & Therapeutics for Phace Syndrome

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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

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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:

34
Brain, Eye, Heart, Thyroid, Kidney

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 99)
idTitleAuthorsYear
1
PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature. (27033295)
2016
2
PHACE syndrome and congenitally absent thyroid gland at MR imaging. (26995578)
2016
3
Fetal Alcohol Exposure and PHACE Syndrome: A Case and Autopsy Report. (27040890)
2016
4
PHACE syndrome is associated with intracranial cavernous malformations. (27125518)
2016
5
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. (26825811)
2016
6
Gigantic vascular anomaly in a PHACE syndrome patient managed with photodynamic therapy. (27229363)
2016
7
PHACE Syndrome - Clinical Features, Aetiology and Management. (26469095)
2015
8
PHACE syndrome misdiagnosed as a port-wine stain. (26177999)
2015
9
Anesthetic Management of a Parturient with PHACE Syndrome for Cesarean Delivery. (26576049)
2015
10
Correction of aortic coarctation in a girl with severe PHACE syndrome. (25312304)
2014
11
In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI). (23220794)
2014
12
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome. (23653582)
2013
13
Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. (23316753)
2013
14
What is your diagnosis? PHACE syndrome. (24153148)
2013
15
Copy number variation analysis in 98 individuals with PHACE syndrome. (23096700)
2013
16
A case of congenital hypothyroidism in PHACE syndrome. (22876567)
2012
17
Candidate locus analysis for PHACE syndrome. (22544659)
2012
18
Airway hemangiomas in PHACE syndrome. (22865344)
2012
19
Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. (22442177)
2012
20
PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review. (22347351)
2012
21
Limb-shaking transient ischemic attacks in an adult PHACE syndrome: a case report and review of the literature. (21710124)
2012
22
A case of phace syndrome and acquired hypopituitarism? (22747526)
2012
23
PHACE syndrome associated with club foot and thumb-in-palm deformity. (22671438)
2012
24
Use of propranolol for treatment of hemangiomas in PHACE syndrome. (22037156)
2011
25
PHACE Syndrome: a new case report. (21382787)
2011
26
Clinical spectrum and risk of PHACE syndrome in cutaneous and airway hemangiomas. (21768412)
2011
27
Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area. (20061274)
2010
28
Need for comprehensive vascular assessment before surgical repair of aortic coarctation in PHACES syndrome. (19936584)
2010
29
Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. (20705698)
2010
30
A patient with PHACE syndrome with marked ipsilateral cerebral atrophy. (20417465)
2010
31
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. (19858157)
2009
32
PHACE syndrome. (19508485)
2009
33
Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome-a case report. (19142902)
2009
34
Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome? (18620881)
2008
35
Unusual coarctation-the PHACE syndrome: report of three cases. (18557884)
2008
36
Congenital hypothyroidism, cerebellar atrophy, and the incomplete phenotypic expression of PHACES syndrome. (18250537)
2008
37
Intracranial infantile hemangiomas associated with PHACE syndrome. (17213418)
2007
38
PHACES syndrome with congenital hypothyroidism. (17351309)
2007
39
Anesthesia management in a child with PHACE syndrome and agenesis of bilateral internal carotid arteries. (17767637)
2007
40
PHACE syndrome: a new case. (16523557)
2006
41
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. (16575892)
2006
42
Infantile midline facial hemangioma with agenesis of the corpus callosum and sinus pericranii: another face of the PHACE syndrome. (16443074)
2006
43
Agenesis of bilateral internal carotid arteries in the PHACE syndrome. (16971595)
2006
44
A case of PHACE syndrome. (16197426)
2005
45
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. (15492745)
2004
46
Cervico-cerebrovascular anomalies in children with PHACE syndrome. (12923590)
2003
47
PHACE syndrome: report of one case. (14983664)
2003
48
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. (12116239)
2002
49
PHACE syndrome: new views on diagnostic criteria. (12548487)
2002
50
PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. (8607636)
1996

Variations for Phace Syndrome

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Copy number variations for Phace Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12200527133600015133700204DeletionSLC35B4PHACE syndrome

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet