MCID: PHC004
MIFTS: 27

Phace Syndrome malady

Neuronal diseases, Eye diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Phace Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Phace Syndrome, also known as phace association, is related to hemangioma and congenital hypothyroidism, and has symptoms including visceral angiomatosis (excluding skin), aortic arches anomalies and ectopic/agenesis/dysgenesis/hypoplastic thyroid. 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, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

phace syndrome 42 48 46
phace association 42 60
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
phaces association 42
p-ciis 42


External Ids:

OMIM46 606519
ICD10 via Orphanet26 Q28.8

Related Diseases for Phace Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Phace Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioma10.7
2congenital hypothyroidism10.3
3hypothyroidism10.3
4cerebritis10.2
5capillary hemangioma10.2
6cervicitis10.2
7patent ductus arteriosus10.1
8arteriovenous malformation10.0
9coloboma10.0
10adult syndrome10.0
11aortic aneurysm10.0
12hypopituitarism10.0
13orofacial cleft10.0
14image syndrome10.0

Graphical network of diseases related to Phace Syndrome:



Diseases related to phace syndrome

Clinical Features for Phace Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

606519

Clinical synopsis from OMIM:

606519

Symptoms:

48 (show all 28)
  • 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
  • carotid artery anomalies
  • aortic root dilatation/dilation/aneurysm
  • 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
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain

Drugs & Therapeutics for Phace Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Phace Syndrome

Genetic Tests for Phace Syndrome

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Anatomical Context for Phace Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Phace Syndrome:

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

Animal Models for Phace Syndrome or affiliated genes

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Publications for Phace Syndrome

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Genetic Variations for Phace Syndrome

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Expression for genes affiliated with Phace Syndrome

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Sources:
15Gene Expression Omnibus DataSets
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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet