MCID: PHC004
MIFTS: 29

Phace Syndrome malady

Neuronal, Eye, Cardiovascular, Fetal categories

Summaries for Phace Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Phace Syndrome, also known as phace association, is related to internal carotid agenesis and congenital hypothyroidism, and has symptoms including capillary hemangioma/nevus/naevus flammeus/port-wine stain, anophthalmos/anophthalmia/microphthalmos/microphthalmia and glaucoma. Affiliated tissues include brain, heart and fetal brain.

Description from OMIM:47 606519

Aliases & Classifications for Phace Syndrome

Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
phace syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

phace syndrome 43 49 47
phace association 43 61
posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities 43
pascual-castroviejo type ii syndrome 43
pascual-castroviejo syndrome type 2 49
phaces association 43
p-ciis 43


External Ids:

OMIM47 606519
ICD10 via Orphanet26 Q87.8

Related Diseases for Phace Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Phace Syndrome:



Diseases related to phace syndrome

Clinical Features for Phace Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

606519

Clinical synopsis from OMIM:

606519

Symptoms:

49 (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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Phace Syndrome

Search NIH Clinical Center for Phace Syndrome

Search CenterWatch for Phace Syndrome

Genetic Tests for Phace Syndrome

Anatomical Context for Phace Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Phace Syndrome:

33
Brain, Heart, Fetal brain

Animal Models for Phace Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Phace Syndrome

Sources:
51PubMed
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Articles related to Phace Syndrome:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI). (23220794)
2014
2
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome. (23653582)
2013
3
Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. (23316753)
2013
4
What is your diagnosis? PHACE syndrome. (24153148)
2013
5
A 65-year-old woman diagnosed with PHACE syndrome. (23278462)
2013
6
Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). (24079520)
2013
7
A case of congenital hypothyroidism in PHACE syndrome. (22876567)
2012
8
Candidate locus analysis for PHACE syndrome. (22544659)
2012
9
Airway hemangiomas in PHACE syndrome. (22865344)
2012
10
PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review. (22347351)
2012
11
Limb-shaking transient ischemic attacks in an adult PHACE syndrome: a case report and review of the literature. (21710124)
2012
12
A case of phace syndrome and acquired hypopituitarism? (22747526)
2012
13
Excellent response of infantile hemangioma associated with PHACES syndrome to propranolol. (22199078)
2012
14
Use of propranolol for treatment of hemangiomas in PHACE syndrome. (22037156)
2011
15
Dental management of PHACE syndrome under general anesthesia. (22169841)
2011
16
Arteriovenous malformation: a rare manifestation of PHACE syndrome. (21504447)
2011
17
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. (21674285)
2011
18
Mild Tessier No. 7 cleft with PHACE syndrome: the case for pulmonary vascular steal. (21834042)
2011
19
Clinical spectrum and risk of PHACE syndrome in cutaneous and airway hemangiomas. (21768412)
2011
20
Risk for PHACE syndrome in infants with large facial hemangiomas. (20643720)
2010
21
Complex aortic coarctation and PHACE syndrome. (21070732)
2010
22
Association of hearing loss with PHACE syndrome. (20713775)
2010
23
Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area. (20061274)
2010
24
Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. (20705698)
2010
25
A patient with PHACE syndrome with marked ipsilateral cerebral atrophy. (20417465)
2010
26
PHACE syndrome. (19508485)
2009
27
Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome-a case report. (19142902)
2009
28
Large destructive facial hemangioma in PHACE syndrome. (20376253)
2009
29
PHACE syndrome associated with congenital oculomotor nerve palsy. (19551563)
2009
30
PHACE syndrome: a constellation of cerebral and cardiovascular anomalies and segmental haemangiomas. (19208073)
2009
31
Unusual coarctation-the PHACE syndrome: report of three cases. (18557884)
2008
32
A comparison of disease severity among affected male versus female patients with PHACE syndrome. (18029054)
2008
33
Intracranial infantile hemangiomas associated with PHACE syndrome. (17213418)
2007
34
PHACES syndrome with congenital hypothyroidism. (17351309)
2007
35
PHACE syndrome: a new case. (16523557)
2006
36
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. (16575892)
2006
37
Case 103: PHACE syndrome. (17114635)
2006
38
Infantile midline facial hemangioma with agenesis of the corpus callosum and sinus pericranii: another face of the PHACE syndrome. (16443074)
2006
39
Agenesis of bilateral internal carotid arteries in the PHACE syndrome. (16971595)
2006
40
PHACE syndrome: report of a case with a glioma of the anterior skull base and ocular malformations. (16144720)
2006
41
A case of PHACE syndrome. (16197426)
2005
42
PHACE Syndrome: Persistent Fetal Vascular Anomalies. A Case Report. (20584448)
2005
43
Infantile orofacial hemangioma with ipsilateral peripapillary excavation in girls: a variant of the PHACE syndrome. (15006868)
2004
44
Superior sternal cleft associated with PHACES syndrome: postnatal sonographic findings. (12636335)
2003
45
Cervicofacial hemangioma and its association with PHACE syndrome. (12748574)
2003
46
PHACE syndrome: report of one case. (14983664)
2003
47
Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association. (12116276)
2002
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
The many faces of PHACE syndrome. (11445804)
2001

Genetic Variations for Phace Syndrome

Expression for genes affiliated with Phace Syndrome

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Phace Syndrome.

Pathways for genes affiliated with Phace Syndrome

Compounds for genes affiliated with Phace Syndrome

GO Terms for genes affiliated with Phace Syndrome

Products for genes affiliated with Phace Syndrome

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Sources for Phace Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet