MCID: PHC004
MIFTS: 36

Phace Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Phace Syndrome

MalaCards integrated aliases for Phace Syndrome:

Name: Phace Syndrome 49
Phace Association 49 69
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 49
Pascual-Castroviejo Type Ii Syndrome 49
Pascual-Castroviejo Syndrome Type 2 49
Phaces Association 49
P-Ciis 49

Classifications:



Summaries for Phace Syndrome

NIH Rare Diseases : 49 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 phace association and hemangioma, and has symptoms including microcephaly, strabismus and glaucoma. An important gene associated with Phace Syndrome is RNF213 (Ring Finger Protein 213). The drug Dermatologic Agents has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart.

Related Diseases for Phace Syndrome

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



Diseases related to Phace Syndrome

Symptoms & Phenotypes for Phace Syndrome

Human phenotypes related to Phace Syndrome:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 strabismus 31 occasional (7.5%) HP:0000486
3 glaucoma 31 frequent (33%) HP:0000501
4 ptosis 31 occasional (7.5%) HP:0000508
5 cataract 31 occasional (7.5%) HP:0000518
6 microphthalmia 31 frequent (33%) HP:0000568
7 optic nerve hypoplasia 31 frequent (33%) HP:0000609
8 iris coloboma 31 occasional (7.5%) HP:0000612
9 amblyopia 31 occasional (7.5%) HP:0000646
10 sclerocornea 31 occasional (7.5%) HP:0000647
11 abnormality of the sternum 31 occasional (7.5%) HP:0000766
12 hypothyroidism 31 occasional (7.5%) HP:0000821
13 heterochromia iridis 31 occasional (7.5%) HP:0001100
14 seizures 31 occasional (7.5%) HP:0001250
15 muscular hypotonia 31 occasional (7.5%) HP:0001252
16 global developmental delay 31 occasional (7.5%) HP:0001263
17 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
18 dandy-walker malformation 31 frequent (33%) HP:0001305
19 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
20 tetralogy of fallot 31 occasional (7.5%) HP:0001636
21 abnormal cardiac septum morphology 31 frequent (33%) HP:0001671
22 coarctation of aorta 31 occasional (7.5%) HP:0001680
23 cerebral arteriovenous malformation 31 frequent (33%) HP:0002408
24 aortic root aneurysm 31 occasional (7.5%) HP:0002616
25 hemiplegia/hemiparesis 31 occasional (7.5%) HP:0004374
26 capillary hemangiomas 31 occasional (7.5%) HP:0005306
27 abnormal carotid artery morphology 31 occasional (7.5%) HP:0005344
28 retinal vascular malformation 31 occasional (7.5%) HP:0007797
29 abnormal cerebral artery morphology 31 hallmark (90%) HP:0009145
30 ectopic thyroid 31 occasional (7.5%) HP:0100028
31 lens coloboma 31 occasional (7.5%) HP:0100719
32 visceral angiomatosis 31 occasional (7.5%) HP:0100761

UMLS symptoms related to Phace Syndrome:


seizures

Drugs & Therapeutics for Phace Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome Completed NCT01018082
2 Hemangioma Associated With High Rates of Morbidity Completed NCT00394888
3 Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies) Recruiting NCT01016756
4 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697

Search NIH Clinical Center for Phace Syndrome

Genetic Tests for Phace Syndrome

Anatomical Context for Phace Syndrome

MalaCards organs/tissues related to Phace Syndrome:

38
Brain, Eye, Heart, Thyroid, Pituitary, Kidney

Publications for Phace Syndrome

Articles related to Phace Syndrome:

(show top 50) (show all 116)
# Title Authors Year
1
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. ( 29171184 )
2018
2
PHACE Syndrome-before and after Propranolol Therapy. ( 29221694 )
2018
3
Moyamoya vasculopathy in PHACE syndrome: six new cases and review of the literature. ( 28887276 )
2017
4
When Faced With Anesthetizing an Infant With PHACE Syndrome: Watch Out for an Airway-Occluding Subglottic Hemangioma! ( 28767481 )
2017
5
PHACE syndrome and cerebral cavernous malformations: association or simply microhemorrhages? ( 28623519 )
2017
6
Concomitant carotid aplasia and basilar artery occlusion in a child with PHACES syndrome. ( 28814594 )
2017
7
PHACE syndrome in a child with segmental IH of face. ( 28942412 )
2017
8
Phace syndrome: is timolol gel a chance for treatment? ( 28129480 )
2017
9
Peters anomaly in PHACE syndrome. ( 28713056 )
2017
10
Hemangioma, aortic coarctation and intracranial dolichoectasia: PHACE syndrome. ( 28211225 )
2017
11
Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome. ( 29224766 )
2017
12
Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository. ( 28867065 )
2017
13
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy. ( 28686325 )
2017
14
Segmental hemangioma of the head and neck: High prevalence of PHACE syndrome. ( 28089002 )
2017
15
Fetal Alcohol Exposure and PHACE Syndrome: A Case and Autopsy Report. ( 27040890 )
2016
16
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. ( 26825811 )
2016
17
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. ( 27659028 )
2016
18
A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report. ( 27741106 )
2016
19
Aortic arch anomalies in PHACE syndrome: An individualized approach to an unusual problem. ( 27210472 )
2016
20
Neurodevelopmental Outcomes in Children with PHACE Syndrome. ( 27291925 )
2016
21
PHACE syndrome is associated with intracranial cavernous malformations. ( 27125518 )
2016
22
Aortic arch tortuosity with PHACE syndrome - a rare case scenario. ( 28405204 )
2016
23
PHACE syndrome and congenitally absent thyroid gland at MR imaging. ( 26995578 )
2016
24
PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature. ( 27033295 )
2016
25
Aortic arch repair in children with PHACE syndrome. ( 27160940 )
2016
26
Gigantic vascular anomaly in a PHACE syndrome patient managed with photodynamic therapy. ( 27229363 )
2016
27
Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome. ( 27977032 )
2016
28
Wilms Tumor in a Child With Bilateral Polycystic Kidneys and PHACE Syndrome: Successful Treatment Outcome Using Partial Nephrectomy and Chemotherapy. ( 26583622 )
2016
29
Neuroimaging Manifestations of PHACE Syndrome. ( 26092543 )
2015
30
Risk of dysphagia and speech and language delay in PHACE syndrome. ( 25440893 )
2015
31
Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course. ( 25809619 )
2015
32
Anesthetic Management of a Parturient with PHACE Syndrome for Cesarean Delivery. ( 26576049 )
2015
33
Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome? ( 26446288 )
2015
34
Bilateral pial synangiosis in a child with PHACE syndrome. ( 26405843 )
2015
35
PHACE Syndrome - Clinical Features, Aetiology and Management. ( 26469095 )
2015
36
Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome. ( 26271792 )
2015
37
PHACE syndrome misdiagnosed as a port-wine stain. ( 26177999 )
2015
38
Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome. ( 26221546 )
2015
39
PHACE syndrome: a retrospective review of 23 patients. ( 24602045 )
2014
40
In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI). ( 23220794 )
2014
41
Anesthesia for aortic reconstruction in a child with PHACE syndrome. ( 24748401 )
2014
42
Tooth enamel hypoplasia in PHACE syndrome. ( 24916277 )
2014
43
PHACE syndrome, a series of six patients: clinical and morphological manifestations, propranolol efficacy, and safety. ( 24962639 )
2014
44
Correction of aortic coarctation in a girl with severe PHACE syndrome. ( 25312304 )
2014
45
PHACE syndrome in antenatally diagnosed posterior fossa anomaly. ( 25165652 )
2014
46
Copy number variation analysis in 98 individuals with PHACE syndrome. ( 23096700 )
2013
47
Neurodevelopmental abnormalities in children with PHACE syndrome. ( 22805249 )
2013
48
Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants. ( 22994362 )
2013
49
What is your diagnosis? PHACE syndrome. ( 24153148 )
2013
50
Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. ( 23316753 )
2013

Variations for Phace Syndrome

Copy number variations for Phace Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 220052 7 133600015 133700204 Deletion SLC35B4 PHACE syndrome

Expression for Phace Syndrome

Search GEO for disease gene expression data for Phace Syndrome.

Pathways for Phace Syndrome

GO Terms for Phace Syndrome

Sources for Phace Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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