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 53
Phace Association 53 73
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 53
Pascual-Castroviejo Type Ii Syndrome 53
Pascual-Castroviejo Syndrome Type 2 53
Phaces Association 53
P-Ciis 53

Classifications:



Summaries for Phace Syndrome

NIH Rare Diseases : 53 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. Treatment is based on the signs and symptoms present in the person. 

MalaCards based summary : Phace Syndrome, also known as phace association, is related to phace association and hemangioma, and has symptoms including seizures 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 eye, brain and heart, and related phenotypes are microcephaly and strabismus

Wikipedia : 76 Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal... more...

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:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 strabismus 32 occasional (7.5%) HP:0000486
3 glaucoma 32 frequent (33%) HP:0000501
4 ptosis 32 occasional (7.5%) HP:0000508
5 cataract 32 occasional (7.5%) HP:0000518
6 microphthalmia 32 frequent (33%) HP:0000568
7 optic nerve hypoplasia 32 frequent (33%) HP:0000609
8 iris coloboma 32 occasional (7.5%) HP:0000612
9 amblyopia 32 occasional (7.5%) HP:0000646
10 sclerocornea 32 occasional (7.5%) HP:0000647
11 abnormality of the sternum 32 occasional (7.5%) HP:0000766
12 hypothyroidism 32 occasional (7.5%) HP:0000821
13 heterochromia iridis 32 occasional (7.5%) HP:0001100
14 seizures 32 occasional (7.5%) HP:0001250
15 muscular hypotonia 32 occasional (7.5%) HP:0001252
16 global developmental delay 32 occasional (7.5%) HP:0001263
17 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
18 dandy-walker malformation 32 frequent (33%) HP:0001305
19 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
20 tetralogy of fallot 32 occasional (7.5%) HP:0001636
21 abnormal cardiac septum morphology 32 frequent (33%) HP:0001671
22 coarctation of aorta 32 occasional (7.5%) HP:0001680
23 cerebral arteriovenous malformation 32 frequent (33%) HP:0002408
24 aortic root aneurysm 32 occasional (7.5%) HP:0002616
25 hemiplegia/hemiparesis 32 occasional (7.5%) HP:0004374
26 capillary hemangioma 32 occasional (7.5%) HP:0005306
27 abnormal carotid artery morphology 32 occasional (7.5%) HP:0005344
28 retinal vascular malformation 32 occasional (7.5%) HP:0007797
29 abnormal cerebral artery morphology 32 hallmark (90%) HP:0009145
30 ectopic thyroid 32 occasional (7.5%) HP:0100028
31 lens coloboma 32 occasional (7.5%) HP:0100719
32 visceral angiomatosis 32 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 Not Applicable

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 Not Applicable
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:

41
Eye, Brain, Heart, Thyroid, Pituitary, Kidney

Publications for Phace Syndrome

Articles related to Phace Syndrome:

(show top 50) (show all 128)
# Title Authors Year
1
Localized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery. ( 29545249 )
2018
2
Hearing loss in PHACE syndrome: clinical and radiologic findings. ( 29748705 )
2018
3
PHACE Syndrome-before and after Propranolol Therapy. ( 29221694 )
2018
4
Distal aortic arch aneurysm in an adult case of PHACE syndrome. ( 29672688 )
2018
5
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. ( 29171184 )
2018
6
PHACE syndrome: clinical manifestations, diagnostic criteria, and management. ( 29924216 )
2018
7
Regarding: "Localized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery". ( 29853523 )
2018
8
Open resection and laryngotracheal reconstruction in a case of subglottic hemangioma in PHACE syndrome. ( 29605352 )
2018
9
Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome. ( 29224766 )
2017
10
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy. ( 28686325 )
2017
11
Concomitant carotid aplasia and basilar artery occlusion in a child with PHACES syndrome. ( 28814594 )
2017
12
Phace syndrome: is timolol gel a chance for treatment? ( 28129480 )
2017
13
Moyamoya vasculopathy in PHACE syndrome: six new cases and review of the literature. ( 28887276 )
2017
14
Segmental hemangioma of the head and neck: High prevalence of PHACE syndrome. ( 28089002 )
2017
15
PHACE syndrome in a child with segmental IH of face. ( 28942412 )
2017
16
Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository. ( 28867065 )
2017
17
Peters anomaly in PHACE syndrome. ( 28713056 )
2017
18
When Faced With Anesthetizing an Infant With PHACE Syndrome: Watch Out for an Airway-Occluding Subglottic Hemangioma! ( 28767481 )
2017
19
PHACE syndrome and cerebral cavernous malformations: association or simply microhemorrhages? ( 28623519 )
2017
20
Hemangioma, aortic coarctation and intracranial dolichoectasia: PHACE syndrome. ( 28211225 )
2017
21
Fetal Alcohol Exposure and PHACE Syndrome: A Case and Autopsy Report. ( 27040890 )
2016
22
A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report. ( 27741106 )
2016
23
PHACE syndrome and congenitally absent thyroid gland at MR imaging. ( 26995578 )
2016
24
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. ( 26825811 )
2016
25
Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome. ( 27977032 )
2016
26
Sternal reconstruction by extracellular matrix: a rare case of phaces syndrome. ( 28352793 )
2016
27
Gigantic vascular anomaly in a PHACE syndrome patient managed with photodynamic therapy. ( 27229363 )
2016
28
PHACE syndrome is associated with intracranial cavernous malformations. ( 27125518 )
2016
29
PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature. ( 27033295 )
2016
30
Aortic arch repair in children with PHACE syndrome. ( 27160940 )
2016
31
Aortic arch tortuosity with PHACE syndrome - a rare case scenario. ( 28405204 )
2016
32
Aortic arch anomalies in PHACE syndrome: An individualized approach to an unusual problem. ( 27210472 )
2016
33
Wilms Tumor in a Child With Bilateral Polycystic Kidneys and PHACE Syndrome: Successful Treatment Outcome Using Partial Nephrectomy and Chemotherapy. ( 26583622 )
2016
34
Neurodevelopmental Outcomes in Children with PHACE Syndrome. ( 27291925 )
2016
35
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. ( 27659028 )
2016
36
Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course. ( 25809619 )
2015
37
Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome? ( 26446288 )
2015
38
Risk of dysphagia and speech and language delay in PHACE syndrome. ( 25440893 )
2015
39
Anesthetic Management of a Parturient with PHACE Syndrome for Cesarean Delivery. ( 26576049 )
2015
40
Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome. ( 26271792 )
2015
41
PHACE Syndrome - Clinical Features, Aetiology and Management. ( 26469095 )
2015
42
PHACE syndrome misdiagnosed as a port-wine stain. ( 26177999 )
2015
43
Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome. ( 26221546 )
2015
44
Bilateral pial synangiosis in a child with PHACE syndrome. ( 26405843 )
2015
45
Neuroimaging Manifestations of PHACE Syndrome. ( 26092543 )
2015
46
Growth hormone replacement in patients with PHACE association and hypopituitarism. ( 24602073 )
2014
47
PHACE syndrome: a retrospective review of 23 patients. ( 24602045 )
2014
48
PHACE syndrome, a series of six patients: clinical and morphological manifestations, propranolol efficacy, and safety. ( 24962639 )
2014
49
In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI). ( 23220794 )
2014
50
Tooth enamel hypoplasia in PHACE syndrome. ( 24916277 )
2014

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....