PSS
MCID: PTC001
MIFTS: 34

Potocki-Shaffer Syndrome (PSS) malady

Fetal diseases category

Summaries for Potocki-Shaffer Syndrome

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 and 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:46 601224

Aliases & Classifications for Potocki-Shaffer Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
potocki-shaffer syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

potocki-shaffer syndrome 42 20 22 21 46 44 48 60
proximal 11p deletion syndrome 42 21 48
11p11.2 deletion 42 48
chromosome 11p11.2 deletion syndrome 21
deletion of chromosome 11p11.2 42
gene deletion abnormality 60
p11pds 21
pss 42


External Ids:

OMIM46 601224
MESH via Orphanet35 C538356
ICD10 via Orphanet26 Q93.5
UMLS via Orphanet61 C1832588

Related Diseases for Potocki-Shaffer Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1intellectual disability10.5
2peeling skin syndrome10.4
3systemic scleroderma10.2
4scleroderma10.1
5autosomal dominant disease10.0EXT2
6williams-beuren syndrome10.0
7trichorhinophalangeal syndrome type ii10.0
8cri-du-chat syndrome10.0
91p36 deletion syndrome10.0
10smith magenis syndrome10.0
111q21.1 microdeletion10.0
129q22.3 microdeletion10.0
1315q24 microdeletion syndrome10.0
14kleefstra syndrome10.0
15mitochondrial dna deletion syndromes10.0
16phelan-mcdermid syndrome10.0
17y chromosome infertility10.0
18chromosome 10p deletion10.0
19chromosome 11p deletion10.0
20chromosome 11q deletion10.0
21jacobsen syndrome10.0
22chromosome 12p deletion10.0
23chromosome 12q deletion10.0
24chromosome 13q deletion10.0
25chromosome 14q deletion10.0
26chromosome 15q deletion10.0
27chromosome 15q25.2 deletion10.0
28chromosome 16p deletion10.0
2916p11.2 deletion syndrome10.0
30chromosome 16p13.3 deletion syndrome10.0
31chromosome 16q deletion10.0
32chromosome 17p deletion10.0
33chromosome 17p13.1 deletion syndrome10.0
34chromosome 17q deletion10.0
35chromosome 19p deletion10.0
36chromosome 19q deletion10.0
37chromosome 1p deletion10.0
38chromosome 1q deletion10.0
39chromosome 1q41-q42 deletion syndrome10.0
40chromosome 20p deletion10.0
41chromosome 20q deletion10.0
42chromosome 21q deletion10.0
43chromosome 22q deletion10.0
44chromosome 2p deletion10.0
45chromosome 2q deletion10.0
46chromosome 2q24 microdeletion syndrome10.0
47chromosome 3p deletion10.0
48chromosome 3q deletion10.0
49chromosome 4p deletion10.0
50chromosome 4q 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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

601224

Clinical synopsis from OMIM:

601224

Symptoms:

48
  • poorly ossified skull/calvarium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • exostoses

Drugs & Therapeutics for Potocki-Shaffer Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Potocki-Shaffer Syndrome:

id Genetic test Affiliating Genes
1 Potocki-Shaffer Syndrome20 22

Anatomical Context for Potocki-Shaffer Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

32
Bone, Brain

Animal Models for Potocki-Shaffer Syndrome or affiliated genes

About this section

Publications for Potocki-Shaffer Syndrome

About this section

Genetic Variations for Potocki-Shaffer Syndrome

About this section

Expression for genes affiliated with Potocki-Shaffer Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Potocki-Shaffer Syndrome

About this section

GO Terms for genes affiliated with Potocki-Shaffer Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Potocki-Shaffer Syndrome

About this section
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