PSS
MCID: PTC001
MIFTS: 37

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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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 based summary: Potocki-Shaffer Syndrome, also known as proximal 11p deletion syndrome, is related to mental retardation and hypotonia, 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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Potocki-Shaffer Syndrome, Aliases & Descriptions:

Name: Potocki-Shaffer Syndrome 42 20 22 21 46 44 48 62
Proximal 11p Deletion Syndrome 42 21 48 62
Chromosome 11p11.2 Deletion Syndrome 21 62
Deletion of Chromosome 11p11.2 42 62
 
11p11.2 Deletion 42 48
Gene Deletion Abnormality 62
P11pds 21
Pss 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 601224
MESH via Orphanet35 C538356
ICD10 via Orphanet26 Q93.5
UMLS via Orphanet63 C1832588

Related Diseases for Potocki-Shaffer Syndrome

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation10.4
2hypotonia10.4
3peeling skin syndrome 110.3
4peeling skin syndrome 210.3
5systemic scleroderma10.2
6scleroderma10.2
7autosomal dominant disease10.1EXT2
8hereditary hemorrhagic telangiectasia10.0
9localized scleroderma10.0
10breast cancer10.0
11peeling 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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Symptoms by clinical synopsis from OMIM:

601224

Clinical features from OMIM:

601224

Symptoms:

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

HPO human phenotypes related to Potocki-Shaffer Syndrome:

(show all 33)
id Description Frequency HPO Source Accession
1 decreased skull ossification hallmark (90%) HP:0004331
2 cognitive impairment hallmark (90%) HP:0100543
3 exostoses hallmark (90%) HP:0100777
4 craniofacial dysostosis frequent (33%) HP:0004439
5 multiple exostoses 10% HP:0002762
6 parietal foramina 9% HP:0002697
7 downturned corners of mouth 8% HP:0002714
8 intellectual disability 7% HP:0001249
9 brachycephaly 6% HP:0000248
10 short philtrum 6% HP:0000322
11 sparse lateral eyebrow 6% HP:0005338
12 micropenis rare (5%) HP:0000054
13 single transverse palmar crease rare (5%) HP:0000954
14 brachydactyly syndrome rare (5%) HP:0001156
15 muscular hypotonia rare (5%) HP:0001252
16 cutaneous syndactyly between fingers 2 and 5 rare (5%) HP:0005650
17 epicanthus 4% HP:0000286
18 telecanthus 4% HP:0000506
19 wormian bones 3% HP:0002645
20 seizures 2% HP:0001250
21 delayed cranial suture closure HP:0000270
22 intellectual disability HP:0001249
23 parietal foramina HP:0002697
24 multiple exostoses HP:0002762
25 abnormality of the male genitalia HP:0010461
26 turricephaly HP:0000262
27 broad forehead HP:0000337
28 high forehead HP:0000348
29 underdeveloped nasal alae HP:0000430
30 wide nasal bridge HP:0000431
31 downslanted palpebral fissures HP:0000494
32 contiguous gene syndrome HP:0001466
33 short nose HP:0003196

Drugs & Therapeutics for Potocki-Shaffer Syndrome

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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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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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MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

32
Bone, Brain

Animal Models for Potocki-Shaffer Syndrome or affiliated genes

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Publications for Potocki-Shaffer Syndrome

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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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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet