PSS
MCID: PTC001
MIFTS: 36

Potocki-Shaffer Syndrome (PSS) malady

Genetic diseases, Rare diseases, Fetal diseases categories

Summaries for Potocki-Shaffer Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Potocki-shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). the characteristic features of potocki-shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, and problems with vision. the features of potocki-shaffer syndrome result from the loss of several genes on the short arm of chromosome 11. last updated: 1/11/2012

MalaCards: Potocki-Shaffer Syndrome, also known as proximal 11p deletion syndrome, is related to intellectual disability and peeling skin syndrome, and has symptoms including poorly ossified skull/calvarium, intellectual deficit/mental/psychomotor retardation/learning disability and exostoses. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer syndrome). Affiliated tissues include bone.

Genetics Home Reference:22 Potocki-Shaffer syndrome is a disorder that affects development of the bones, brain, and other organs. Most people with this condition have multiple non-cancerous (benign) bone tumors called exostoses. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have.

Description from OMIM:48 601224

Aliases & Classifications for Potocki-Shaffer Syndrome

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases


Characteristics (Orphanet epidemiological data):

50
potocki-shaffer syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

potocki-shaffer syndrome 44 21 23 22 48 46 50 63
proximal 11p deletion syndrome 44 22 50
11p11.2 deletion 44 50
chromosome 11p11.2 deletion syndrome 22
deletion of chromosome 11p11.2 44
gene deletion abnormality 63
p11pds 22
pss 44


External Ids:

OMIM48 601224
MESH via Orphanet37 C538356
ICD10 via Orphanet27 Q93.5
UMLS via Orphanet64 C1832588

Related Diseases for Potocki-Shaffer Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Potocki-Shaffer Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1intellectual disability10.5
2peeling skin syndrome10.4
3mental retardation10.4
4hypotonia10.4
5scleroderma10.2
6systemic scleroderma10.2
7autosomal dominant disease10.0EXT2
8hereditary hemorrhagic telangiectasia10.0
9localized scleroderma10.0
10alcohol dependence10.0
11breast cancer10.0
12hypotrichosis 210.0
13peeling skin syndrome type a10.0

Graphical network of diseases related to Potocki-Shaffer Syndrome:



Diseases related to potocki-shaffer syndrome

Symptoms for Potocki-Shaffer Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

601224

Clinical features from OMIM:

601224

Symptoms:

50
  • poorly ossified skull/calvarium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • exostoses

Drugs & Therapeutics for Potocki-Shaffer Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Potocki-Shaffer Syndrome

Drug clinical trials:

Search ClinicalTrials for Potocki-Shaffer Syndrome

Search NIH Clinical Center for Potocki-Shaffer Syndrome

Search CenterWatch for Potocki-Shaffer Syndrome

Genetic Tests for Potocki-Shaffer Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Potocki-Shaffer Syndrome:

id Genetic test Affiliating Genes
1 Potocki-Shaffer Syndrome21 23

Anatomical Context for Potocki-Shaffer Syndrome

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34MalaCards
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MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

34
Bone

Animal Models for Potocki-Shaffer Syndrome or affiliated genes

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Publications for Potocki-Shaffer Syndrome

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53PubMed
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Articles related to Potocki-Shaffer Syndrome:

idTitleAuthorsYear
1
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. (23239541)
2013
2
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. (22822387)
2012
3
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (22770980)
2012
4
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. (22913728)
2012
5
New information, recommendations for Potocki-Shaffer syndrome. (20186793)
2010
6
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. (20140962)
2010
7
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. (15852040)
2005
8
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. (15666301)
2005
9
Potocki-Shaffer syndrome: report of one case. (14674231)
2003
10
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. (11903336)
2001

Variations for Potocki-Shaffer Syndrome

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Expression for genes affiliated with Potocki-Shaffer Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Potocki-Shaffer Syndrome

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Pathways for genes affiliated with Potocki-Shaffer Syndrome

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Compounds for genes affiliated with Potocki-Shaffer Syndrome

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GO Terms for genes affiliated with Potocki-Shaffer Syndrome

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17Gene Ontology
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Molecular functions related to Potocki-Shaffer Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.0EXT2, ALX4

Products for genes affiliated with Potocki-Shaffer Syndrome

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Sources for Potocki-Shaffer Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet