MCID: PHC004
MIFTS: 35

Phace Syndrome malady

Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Phace Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 hemangioma and congenital hypothyroidism, and has symptoms including visceral angiomatosis (excluding skin), aortic arches anomalies and ectopic/agenesis/dysgenesis/hypoplastic thyroid. Affiliated tissues include eye, brain and heart.

Description from OMIM:48 606519

Aliases & Classifications for Phace Syndrome

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Sources:
44NIH Rare Diseases, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
phace syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

phace syndrome 44 50 48
phace association 44 63
posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities 44
pascual-castroviejo type ii syndrome 44
pascual-castroviejo syndrome type 2 50
phaces association 44
p-ciis 44


External Ids:

OMIM48 606519
ICD10 via Orphanet27 Q28.8
UMLS via Orphanet64 C2242617

Related Diseases for Phace Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Phace Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioma10.7
2congenital hypothyroidism10.3
3hypothyroidism10.3
4cerebritis10.2
5capillary hemangioma10.2
6cervicitis10.2
7aortic coarctation10.2
8sternal cleft10.2
9patent ductus arteriosus10.1
10arteriovenous malformation10.1
11coloboma10.1
12aortic aneurysm10.1
13hypopituitarism10.1
14orofacial cleft10.1
15growth hormone deficiency10.1
16aneurysm10.1
17cerebral atrophy10.1
18sternal malformation - vascular dysplasia10.1

Graphical network of diseases related to Phace Syndrome:



Diseases related to phace syndrome

Symptoms for Phace Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

606519

Clinical features from OMIM:

606519

Symptoms:

50 (show all 28)
  • 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
  • carotid artery anomalies
  • aortic root dilatation/dilation/aneurysm
  • 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
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain

Drugs & Therapeutics for Phace Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Phace Syndrome

Genetic Tests for Phace Syndrome

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Anatomical Context for Phace Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Phace Syndrome:

34
Eye, Brain, Heart, Skin, Cerebellum, Thyroid

Animal Models for Phace Syndrome or affiliated genes

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Publications for Phace Syndrome

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Sources:
53PubMed
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Articles related to Phace Syndrome:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. (23316753)
2013
2
Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants. (22994362)
2013
3
What is your diagnosis? PHACE syndrome. (24153148)
2013
4
A 65-year-old woman diagnosed with PHACE syndrome. (23278462)
2013
5
Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). (24079520)
2013
6
Neurodevelopmental abnormalities in children with PHACE syndrome. (22805249)
2013
7
PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report. (22010790)
2012
8
A case of congenital hypothyroidism in PHACE syndrome. (22876567)
2012
9
Candidate locus analysis for PHACE syndrome. (22544659)
2012
10
Airway hemangiomas in PHACE syndrome. (22865344)
2012
11
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
12
PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review. (22347351)
2012
13
Limb-shaking transient ischemic attacks in an adult PHACE syndrome: a case report and review of the literature. (21710124)
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
Novel management of the microphthalmic orbit in a patient with PHACE syndrome. (21629142)
2011
17
Arteriovenous malformation: a rare manifestation of PHACE syndrome. (21504447)
2011
18
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. (21674285)
2011
19
Dramatic response to topical timolol lotion of a large hemifacial infantile haemangioma associated with PHACE syndrome. (21158749)
2011
20
PHACE Syndrome: a new case report. (21382787)
2011
21
Risk for PHACE syndrome in infants with large facial hemangiomas. (20643720)
2010
22
Complex aortic coarctation and PHACE syndrome. (21070732)
2010
23
Association of hearing loss with PHACE syndrome. (20713775)
2010
24
Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area. (20061274)
2010
25
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. (19858157)
2009
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
Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome? (18620881)
2008
31
Intracranial infantile hemangiomas associated with PHACE syndrome. (17213418)
2007
32
PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. (17560503)
2007
33
PHACE syndrome: a new case. (16523557)
2006
34
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. (16575892)
2006
35
Case 103: PHACE syndrome. (17114635)
2006
36
Infantile midline facial hemangioma with agenesis of the corpus callosum and sinus pericranii: another face of the PHACE syndrome. (16443074)
2006
37
Agenesis of bilateral internal carotid arteries and posterior fossa abnormality in a patient with facial capillary hemangioma: presumed incomplete phenotypic expression of PHACE syndrome. (16286414)
2005
38
A case of PHACE syndrome. (16197426)
2005
39
PHACE Syndrome: Persistent Fetal Vascular Anomalies. A Case Report. (20584448)
2005
40
Otolaryngologic manifestations of PHACE syndrome. (15488979)
2004
41
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. (15492745)
2004
42
Cervico-cerebrovascular anomalies in children with PHACE syndrome. (12923590)
2003
43
Superior sternal cleft associated with PHACES syndrome: postnatal sonographic findings. (12636335)
2003
44
Cervicofacial hemangioma and its association with PHACE syndrome. (12748574)
2003
45
PHACE syndrome: report of one case. (14983664)
2003
46
Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association. (12116276)
2002
47
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. (12116239)
2002
48
PHACE syndrome: new views on diagnostic criteria. (12548487)
2002
49
The many faces of PHACE syndrome. (11445804)
2001
50
Giant hemifacial angioma and PHACE syndrome. (9155991)
1997

Variations for Phace Syndrome

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Expression for genes affiliated with Phace Syndrome

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16Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Phace Syndrome

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GO Terms for genes affiliated with Phace Syndrome

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Products for genes affiliated with Phace Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phace Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet