PSS
MCID: PTC001
MIFTS: 36

Potocki-Shaffer Syndrome (PSS) malady

Genetic diseases, Rare diseases, Fetal diseases categories
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Summaries for Potocki-Shaffer Syndrome

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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:21 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:47 601224

Aliases & Classifications for Potocki-Shaffer Syndrome

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS 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):

49
potocki-shaffer syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

potocki-shaffer syndrome 43 20 22 21 47 45 49 62
proximal 11p deletion syndrome 43 21 49
11p11.2 deletion 43 49
chromosome 11p11.2 deletion syndrome 21
deletion of chromosome 11p11.2 43
gene deletion abnormality 62
p11pds 21
pss 43


External Ids:

OMIM47 601224
MESH via Orphanet36 C538356
ICD10 via Orphanet26 Q93.5
UMLS via Orphanet63 C1832588

Related Diseases for Potocki-Shaffer Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

601224

Clinical features from OMIM:

601224

Symptoms:

49
  • poorly ossified skull/calvarium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • exostoses

Drugs & Therapeutics for Potocki-Shaffer Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Potocki-Shaffer Syndrome

Search NIH Clinical Center for Potocki-Shaffer Syndrome

Genetic Tests for Potocki-Shaffer Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Potocki-Shaffer Syndrome:

id Genetic test Affiliating Genes
1 Potocki-Shaffer Syndrome20 22

Anatomical Context for Potocki-Shaffer Syndrome

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33MalaCards
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MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

33
Bone

Animal Models for Potocki-Shaffer Syndrome or affiliated genes

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Publications for Potocki-Shaffer Syndrome

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Sources:
52PubMed
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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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Potocki-Shaffer Syndrome

Search GEO for disease gene expression data for Potocki-Shaffer Syndrome.

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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16Gene 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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  • Antibodies
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Sources for Potocki-Shaffer Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet