MCID: PHC004
MIFTS: 27

Phace Syndrome malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Phace Syndrome

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Aliases & Descriptions for Phace Syndrome:

Name: Phace Syndrome 48
Phace Association 48 68
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 48
Pascual-Castroviejo Type Ii Syndrome 48
 
Pascual-Castroviejo Syndrome Type 2 48
Phaces Association 48
P-Ciis 48

Characteristics:


Classifications:



Summaries for Phace Syndrome

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NIH Rare Diseases:48 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 hemangioma and congenital hypothyroidism, and has symptoms including seizures, congenital cataract and microphthalmia. Affiliated tissues include brain, eye and heart.

Related Diseases for Phace Syndrome

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



Diseases related to phace syndrome

Symptoms & Phenotypes for Phace Syndrome

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Human phenotypes related to Phace Syndrome:

 64 (show all 46)
id Description HPO Frequency HPO Source Accession
1 congenital cataract64 HP:0000519
2 microphthalmia64 HP:0000568
3 optic nerve hypoplasia64 HP:0000609
4 optic atrophy64 HP:0000648
5 congenital hypothyroidism64 HP:0000851
6 seizures64 HP:0001250
7 global developmental delay64 HP:0001263
8 dandy-walker malformation64 HP:0001305
9 cerebellar hypoplasia64 HP:0001321
10 ventricular septal defect64 HP:0001629
11 patent ductus arteriosus64 HP:0001643
12 coarctation of aorta64 HP:0001680
13 migraine64 HP:0002076
14 horner syndrome64 HP:0002277
15 aortic aneurysm64 HP:0004942
16 anomalous branches of internal carotid artery64 HP:0005314
17 plaque-like facial hemangioma64 HP:0007434
18 cavernous hemangioma of the face64 HP:0007486
19 increased retinal vascularity64 HP:0007986
20 lingual thyroid64 HP:0100029
21 arterial stenosis64 HP:0100545
22 microcephaly64 HP:0000252
23 strabismus64 HP:0000486
24 glaucoma64 HP:0000501
25 ptosis64 HP:0000508
26 cataract64 HP:0000518
27 iris coloboma64 HP:0000612
28 amblyopia64 HP:0000646
29 sclerocornea64 HP:0000647
30 abnormality of the sternum64 HP:0000766
31 hypothyroidism64 HP:0000821
32 heterochromia iridis64 HP:0001100
33 muscular hypotonia64 HP:0001252
34 agenesis of corpus callosum64 HP:0001274
35 tetralogy of fallot64 HP:0001636
36 abnormality of the cardiac septa64 HP:0001671
37 cerebral arteriovenous malformation64 HP:0002408
38 aortic root dilatation64 HP:0002616
39 hemiplegia/hemiparesis64 HP:0004374
40 capillary hemangiomas64 HP:0005306
41 abnormality of the carotid arteries64 HP:0005344
42 retinal vascular malformation64 HP:0007797
43 abnormality of cerebral artery64 HP:0009145
44 ectopic thyroid64 HP:0100028
45 lens coloboma64 HP:0100719
46 visceral angiomatosis64 HP:0100761

UMLS symptoms related to Phace Syndrome:


seizures

Drugs & Therapeutics for Phace Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Dermatologic Agents5806

Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE SyndromeCompletedNCT01018082
2Hemangioma Associated With High Rates of MorbidityCompletedNCT00394888
3Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)RecruitingNCT01016756

Search NIH Clinical Center for Phace Syndrome

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:

36
Brain, Eye, Heart, Thyroid, Kidney

Publications for Phace Syndrome

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Articles related to Phace Syndrome:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Segmental hemangioma of the head and neck: High prevalence of PHACE syndrome. (28089002)
2017
2
Gigantic vascular anomaly in a PHACE syndrome patient managed with photodynamic therapy. (27229363)
2016
3
Aortic arch anomalies in PHACE syndrome: An individualized approach to an unusual problem. (27210472)
2016
4
PHACE syndrome and congenitally absent thyroid gland at MR imaging. (26995578)
2016
5
PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature. (27033295)
2016
6
Neurodevelopmental Outcomes in Children with PHACE Syndrome. (27291925)
2016
7
Wilms Tumor in a Child With Bilateral Polycystic Kidneys and PHACE Syndrome: Successful Treatment Outcome Using Partial Nephrectomy and Chemotherapy. (26583622)
2016
8
PHACE syndrome is associated with intracranial cavernous malformations. (27125518)
2016
9
Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome. (27977032)
2016
10
Aortic arch repair in children with PHACE syndrome. (27160940)
2016
11
Fetal Alcohol Exposure and PHACE Syndrome: A Case and Autopsy Report. (27040890)
2016
12
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. (27659028)
2016
13
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. (26825811)
2016
14
A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report. (27741106)
2016
15
PHACE Syndrome - Clinical Features, Aetiology and Management. (26469095)
2015
16
Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome? (26446288)
2015
17
Anesthetic Management of a Parturient with PHACE Syndrome for Cesarean Delivery. (26576049)
2015
18
Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course. (25809619)
2015
19
Risk of dysphagia and speech and language delay in PHACE syndrome. (25440893)
2015
20
Neuroimaging Manifestations of PHACE Syndrome. (26092543)
2015
21
Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome. (26271792)
2015
22
Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome. (26221546)
2015
23
PHACE syndrome misdiagnosed as a port-wine stain. (26177999)
2015
24
Bilateral pial synangiosis in a child with PHACE syndrome. (26405843)
2015
25
Correction of aortic coarctation in a girl with severe PHACE syndrome. (25312304)
2014
26
In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI). (23220794)
2014
27
Anesthesia for aortic reconstruction in a child with PHACE syndrome. (24748401)
2014
28
Tooth enamel hypoplasia in PHACE syndrome. (24916277)
2014
29
PHACE syndrome: a retrospective review of 23 patients. (24602045)
2014
30
PHACE syndrome, a series of six patients: clinical and morphological manifestations, propranolol efficacy, and safety. (24962639)
2014
31
PHACE syndrome in antenatally diagnosed posterior fossa anomaly. (25165652)
2014
32
Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. (23316753)
2013
33
A 65-year-old woman diagnosed with PHACE syndrome. (23278462)
2013
34
Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). (24079520)
2013
35
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome. (23653582)
2013
36
Copy number variation analysis in 98 individuals with PHACE syndrome. (23096700)
2013
37
What is your diagnosis? PHACE syndrome. (24153148)
2013
38
Neurodevelopmental abnormalities in children with PHACE syndrome. (22805249)
2013
39
Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants. (22994362)
2013
40
Candidate locus analysis for PHACE syndrome. (22544659)
2012
41
PHACE syndrome associated with club foot and thumb-in-palm deformity. (22671438)
2012
42
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
43
PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report. (22010790)
2012
44
Limb-shaking transient ischemic attacks in an adult PHACE syndrome: a case report and review of the literature. (21710124)
2012
45
PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review. (22347351)
2012
46
Airway hemangiomas in PHACE syndrome. (22865344)
2012
47
Excellent response of infantile hemangioma associated with PHACES syndrome to propranolol. (22199078)
2012
48
A case of phace syndrome and acquired hypopituitarism? (22747526)
2012
49
A case of congenital hypothyroidism in PHACE syndrome. (22876567)
2012
50
Dramatic response to topical timolol lotion of a large hemifacial infantile haemangioma associated with PHACE syndrome. (21158749)
2011

Variations for Phace Syndrome

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Copy number variations for Phace Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12200527133600015133700204DeletionSLC35B4PHACE syndrome

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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GO Terms for genes affiliated with Phace Syndrome

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Sources for Phace Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet