MCID: PHC004
MIFTS: 27

Phace Syndrome malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Phace Syndrome

Aliases & Descriptions for Phace Syndrome:

Name: Phace Syndrome 50
Phace Association 50 69
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 50
Pascual-Castroviejo Type Ii Syndrome 50
Pascual-Castroviejo Syndrome Type 2 50
Phaces Association 50
P-Ciis 50

Characteristics:

HPO:

32
phace syndrome:
Inheritance sporadic x-linked dominant inheritance


Classifications:



Summaries for Phace Syndrome

NIH Rare Diseases : 50 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, agenesis of corpus callosum and ptosis. The drug Dermatologic Agents has been mentioned in the context of this disorder. Affiliated tissues include eye, brain and heart.

Related Diseases for Phace Syndrome

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

(show all 28)
id Related Disease Score Top Affiliating Genes
1 hemangioma 10.3
2 congenital hypothyroidism 9.9
3 hypothyroidism 9.9
4 aortic coarctation 9.9
5 sternal cleft 9.8
6 cervicitis 9.8
7 capillary hemangioma 9.8
8 cerebritis 9.8
9 retinoblastoma 9.6
10 gigantism 9.6
11 cerebellar hypoplasia 9.6
12 glioma 9.6
13 aortic arch interruption 9.6
14 growth hormone deficiency 9.6
15 lymphatic malformations 9.6
16 orofacial cleft 9.6
17 aneurysm 9.6
18 sclerocornea 9.6
19 cavernous malformation 9.6
20 arteriovenous malformation 9.6
21 cerebral atrophy 9.6
22 dysphagia 9.6
23 headache 9.6
24 congenital oculomotor nerve palsy 9.6
25 persistent fifth aortic arch 9.6
26 aortic aneurysm 9.6
27 thyroiditis 9.6
28 hypopituitarism 9.6

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 46)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 agenesis of corpus callosum 32 HP:0001274
3 ptosis 32 HP:0000508
4 hypothyroidism 32 HP:0000821
5 muscular hypotonia 32 HP:0001252
6 cataract 32 HP:0000518
7 global developmental delay 32 HP:0001263
8 microcephaly 32 HP:0000252
9 optic atrophy 32 HP:0000648
10 hemiplegia/hemiparesis 32 HP:0004374
11 strabismus 32 HP:0000486
12 patent ductus arteriosus 32 HP:0001643
13 coarctation of aorta 32 HP:0001680
14 migraine 32 HP:0002076
15 heterochromia iridis 32 HP:0001100
16 optic nerve hypoplasia 32 HP:0000609
17 cerebellar hypoplasia 32 HP:0001321
18 microphthalmia 32 HP:0000568
19 glaucoma 32 HP:0000501
20 capillary hemangiomas 32 HP:0005306
21 visceral angiomatosis 32 HP:0100761
22 tetralogy of fallot 32 HP:0001636
23 ventricular septal defect 32 HP:0001629
24 amblyopia 32 HP:0000646
25 abnormality of the cardiac septa 32 HP:0001671
26 abnormality of the carotid arteries 32 HP:0005344
27 arterial stenosis 32 HP:0100545
28 sclerocornea 32 HP:0000647
29 iris coloboma 32 HP:0000612
30 abnormality of the sternum 32 HP:0000766
31 dandy-walker malformation 32 HP:0001305
32 horner syndrome 32 HP:0002277
33 aortic root dilatation 32 HP:0002616
34 congenital hypothyroidism 32 HP:0000851
35 congenital cataract 32 HP:0000519
36 cavernous hemangioma of the face 32 HP:0007486
37 aortic aneurysm 32 HP:0004942
38 ectopic thyroid 32 HP:0100028
39 retinal vascular malformation 32 HP:0007797
40 cerebral arteriovenous malformation 32 HP:0002408
41 lens coloboma 32 HP:0100719
42 abnormality of cerebral artery 32 HP:0009145
43 anomalous branches of internal carotid artery 32 HP:0005314
44 plaque-like facial hemangioma 32 HP:0007434
45 increased retinal vascularity 32 HP:0007986
46 lingual thyroid 32 HP:0100029

UMLS symptoms related to Phace Syndrome:


seizures

Drugs & Therapeutics for Phace Syndrome

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
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

Search NIH Clinical Center for Phace Syndrome

Genetic Tests for Phace Syndrome

Anatomical Context for Phace Syndrome

MalaCards organs/tissues related to Phace Syndrome:

39
Eye, Brain, Heart, Thyroid, Kidney

Publications for Phace Syndrome

Articles related to Phace Syndrome:

(show top 50) (show all 102)
id Title Authors Year
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

Copy number variations for Phace Syndrome from CNVD:

7
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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