MCID: PHC004
MIFTS: 36

Phace Syndrome malady

Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Phace Syndrome

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NIH Rare Diseases:42 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 phaces association, is related to hemangioma and congenital hypothyroidism, 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.

Description from OMIM:46 606519

Aliases & Classifications for Phace Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Phace Syndrome, Aliases & Descriptions:

Name: Phace Syndrome 42 48 46
Phaces Association 42 62
Phace Association 42 62
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 42
 
Pascual-Castroviejo Type Ii Syndrome 42
Pascual-Castroviejo Syndrome Type 2 48
P-Ciis 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
phace syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 606519
ICD10 via Orphanet26 Q28.8
UMLS via Orphanet63 C2242617

Related Diseases for Phace Syndrome

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioma10.7
2congenital hypothyroidism10.3
3hypothyroidism10.3
4aortic coarctation10.3
5cerebritis10.2
6capillary hemangioma10.2
7cervicitis10.2
8sternal cleft10.2
9patent ductus arteriosus10.1
10coloboma10.1
11arteriovenous malformation10.1
12aortic aneurysm10.1
13hypopituitarism10.1
14orofacial cleft10.1
15agenesis of the corpus callosum10.1
16growth hormone deficiency10.1
17aneurysm10.1
18cerebral atrophy10.1
19sternal 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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Symptoms by clinical synopsis from OMIM:

606519

Clinical features from OMIM:

606519

Symptoms:

48 (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

HPO human phenotypes related to Phace Syndrome:

(show all 45)
id Description Frequency HPO Source Accession
1 glaucoma typical (50%) HP:0000501
2 optic atrophy typical (50%) HP:0000648
3 dandy-walker malformation typical (50%) HP:0001305
4 abnormality of the cardiac septa typical (50%) HP:0001671
5 microcephaly occasional (7.5%) HP:0000252
6 cataract occasional (7.5%) HP:0000518
7 iris coloboma occasional (7.5%) HP:0000612
8 sclerocornea occasional (7.5%) HP:0000647
9 abnormality of the sternum occasional (7.5%) HP:0000766
10 hypothyroidism occasional (7.5%) HP:0000821
11 seizures occasional (7.5%) HP:0001250
12 muscular hypotonia occasional (7.5%) HP:0001252
13 tetralogy of fallot occasional (7.5%) HP:0001636
14 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
15 dilatation of the ascending aorta occasional (7.5%) HP:0005111
16 abnormality of the carotid arteries occasional (7.5%) HP:0005344
17 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
18 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
19 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
20 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
21 cognitive impairment occasional (7.5%) HP:0100543
22 lens coloboma occasional (7.5%) HP:0100719
23 visceral angiomatosis occasional (7.5%) HP:0100761
24 congenital cataract HP:0000519
25 microphthalmos HP:0000568
26 optic nerve hypoplasia HP:0000609
27 optic atrophy HP:0000648
28 congenital hypothyroidism HP:0000851
29 seizures HP:0001250
30 global developmental delay HP:0001263
31 dandy-walker malformation HP:0001305
32 cerebellar hypoplasia HP:0001321
33 x-linked dominant inheritance HP:0001423
34 ventricular septal defect HP:0001629
35 patent ductus arteriosus HP:0001643
36 coarctation of aorta HP:0001680
37 migraine HP:0002076
38 horner syndrome HP:0002277
39 aortic aneurysm HP:0004942
40 anomalous branches of internal carotid artery HP:0005314
41 plaque-like facial hemangioma HP:0007434
42 cavernous hemangioma of the face HP:0007486
43 increased retinal vascularity HP:0007986
44 lingual thyroid HP:0100029
45 arterial stenosis HP:0100545

Drugs & Therapeutics for Phace Syndrome

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Drug clinical trials:

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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:

32
Eye, Brain, Heart, Cerebellum, Thyroid, Skin

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 77)
idTitleAuthorsYear
1
PHACE syndrome in antenatally diagnosed posterior fossa anomaly. (25165652)
2014
2
PHACE syndrome, a series of six patients: clinical and morphological manifestations, propranolol efficacy, and safety. (24962639)
2014
3
Correction of aortic coarctation in a girl with severe PHACE syndrome. (25312304)
2014
4
Anesthesia for aortic reconstruction in a child with PHACE syndrome. (24748401)
2014
5
Tooth enamel hypoplasia in PHACE syndrome. (24916277)
2014
6
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome. (23653582)
2013
7
Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. (23316753)
2013
8
Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants. (22994362)
2013
9
What is your diagnosis? PHACE syndrome. (24153148)
2013
10
A 65-year-old woman diagnosed with PHACE syndrome. (23278462)
2013
11
PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report. (22010790)
2012
12
A case of congenital hypothyroidism in PHACE syndrome. (22876567)
2012
13
Candidate locus analysis for PHACE syndrome. (22544659)
2012
14
Airway hemangiomas in PHACE syndrome. (22865344)
2012
15
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
16
PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review. (22347351)
2012
17
Limb-shaking transient ischemic attacks in an adult PHACE syndrome: a case report and review of the literature. (21710124)
2012
18
Use of propranolol for treatment of hemangiomas in PHACE syndrome. (22037156)
2011
19
Dental management of PHACE syndrome under general anesthesia. (22169841)
2011
20
Novel management of the microphthalmic orbit in a patient with PHACE syndrome. (21629142)
2011
21
Arteriovenous malformation: a rare manifestation of PHACE syndrome. (21504447)
2011
22
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. (21674285)
2011
23
Risk for PHACE syndrome in infants with large facial hemangiomas. (20643720)
2010
24
Complex aortic coarctation and PHACE syndrome. (21070732)
2010
25
Association of hearing loss with PHACE syndrome. (20713775)
2010
26
Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area. (20061274)
2010
27
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. (19858157)
2009
28
PHACE syndrome. (19508485)
2009
29
Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome-a case report. (19142902)
2009
30
Large destructive facial hemangioma in PHACE syndrome. (20376253)
2009
31
PHACE syndrome associated with congenital oculomotor nerve palsy. (19551563)
2009
32
Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome? (18620881)
2008
33
Intracranial infantile hemangiomas associated with PHACE syndrome. (17213418)
2007
34
PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. (17560503)
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
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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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

Sources for Phace Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet