PSS
MCID: PTC001
MIFTS: 35

Potocki-Shaffer Syndrome (PSS) malady

Fetal category

Summaries for Potocki-Shaffer Syndrome

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 peeling skin syndrome and n 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 brain.

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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal


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 61
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 61
p11pds 21
pss 43


External Ids:

OMIM47 601224
MESH via Orphanet36 C538356
ICD10 via Orphanet26 Q93.5
UMLS via Orphanet62 C1832588

Related Diseases for Potocki-Shaffer Syndrome

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

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1peeling skin syndrome10.4
2n syndrome10.3
3micro syndrome10.3
4chromosome 11p deletion10.3
5mental retardation10.3
6hypotonia10.3
7systemic scleroderma10.2
8hereditary hemorrhagic telangiectasia10.0
9localized scleroderma10.0
10alcohol dependence10.0
11hypotrichosis simplex of scalp 110.0
12rh-mod syndrome10.0
13peeling skin syndrome type a10.0
14williams-beuren syndrome10.0
15trichorhinophalangeal syndrome type ii10.0
16cri-du-chat syndrome10.0
171p36 deletion syndrome10.0
18smith magenis syndrome10.0
191q21.1 microdeletion10.0
209q22.3 microdeletion10.0
2115q24 microdeletion syndrome10.0
22kleefstra syndrome10.0
23mitochondrial dna deletion syndromes10.0
24phelan-mcdermid syndrome10.0
25y chromosome infertility10.0
26chromosome 10p deletion10.0
27chromosome 11q deletion10.0
28jacobsen syndrome10.0
29chromosome 12p deletion10.0
30chromosome 12q deletion10.0
31chromosome 13q deletion10.0
32chromosome 14q deletion10.0
33chromosome 15q deletion10.0
34chromosome 15q25.2 deletion10.0
35chromosome 16p deletion10.0
3616p11.2 deletion syndrome10.0
37chromosome 16p13.3 deletion syndrome10.0
38chromosome 16q deletion10.0
39chromosome 17p deletion10.0
40chromosome 17p13.1 deletion syndrome10.0
41chromosome 17q deletion10.0
42chromosome 19p deletion10.0
43chromosome 19q deletion10.0
44chromosome 1p deletion10.0
45chromosome 1q deletion10.0
46chromosome 1q41-q42 deletion syndrome10.0
47chromosome 20p deletion10.0
48chromosome 20q deletion10.0
49chromosome 21q deletion10.0
50chromosome 22q deletion10.0

Graphical network of the top 20 diseases related to Potocki-Shaffer Syndrome:



Diseases related to potocki-shaffer syndrome

Clinical Features for Potocki-Shaffer Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

601224

Clinical synopsis from OMIM:

601224

Symptoms:

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

Drugs & Therapeutics for Potocki-Shaffer Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

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

33
Brain

Animal Models for Potocki-Shaffer Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Potocki-Shaffer Syndrome

Sources:
51PubMed
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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

Genetic Variations for Potocki-Shaffer Syndrome

Expression for genes affiliated with Potocki-Shaffer Syndrome

Sources:
1BioGPS, 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

Compounds for genes affiliated with Potocki-Shaffer Syndrome

GO Terms for genes affiliated with Potocki-Shaffer Syndrome

Sources:
16Gene Ontology
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Molecular functions related to Potocki-Shaffer Syndrome according to GeneCards/GeneDecks:

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

Products for genes affiliated with Potocki-Shaffer Syndrome

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Sources for Potocki-Shaffer Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet