MCID: PTC001
MIFTS: 35

Potocki-Shaffer Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 49 11 45 22 23 47 51 67 24
Chromosome 11p11.2 Deletion Syndrome 23 67 65
Proximal 11p Deletion Syndrome 45 23 51
11p11.2 Deletion 45 51
Deletion of Chromosome 11p11.2 45
 
11p11.2 Deletion Syndrome 22
P11pds 23
Poshs 67
Pss 45

Characteristics:

Orphanet epidemiological data:

51
potocki-shaffer syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
potocki-shaffer syndrome:
Inheritance: contiguous gene syndrome


Classifications:



External Ids:

OMIM49 601224
Orphanet51 52022
ICD10 via Orphanet28 Q93.5
MESH via Orphanet37 C538356
UMLS via Orphanet66 C1832588
MedGen34 C1832588
MeSH36 D002872
UMLS65 C1832588

Summaries for Potocki-Shaffer Syndrome

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NIH Rare Diseases:45 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, autism and problems with vision and hearing. in some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. the features of potocki-shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. in particular, the deletion of a gene called alx4 causes enlarged parietal foramina, while the loss of another gene, ext2, causes the multiple exostoses. another condition called wagr syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. individuals with such a deletion have signs and symptoms of both potocki-shaffer syndrome and wagr syndrome. a referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended. last updated: 9/22/2015

MalaCards based summary: Potocki-Shaffer Syndrome, also known as chromosome 11p11.2 deletion syndrome, is related to peeling skin syndrome 2 and osteogenesis imperfecta, type xvi, and has symptoms including exostoses, cognitive impairment and decreased skull ossification. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, brain and heart.

UniProtKB/Swiss-Prot:67 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

Genetics Home Reference:23 Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. 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. Unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life.

OMIM:49 Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2... (601224) more...

Related Diseases for Potocki-Shaffer Syndrome

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Graphical network of the top 20 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:

 51
  • poorly ossified skull/calvarium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • exostoses

HPO human phenotypes related to Potocki-Shaffer Syndrome:

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

Drugs & Therapeutics for Potocki-Shaffer Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22

Anatomical Context for Potocki-Shaffer Syndrome

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MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

33
Bone, Brain, Heart, Skin, Kidney, Colon, Breast

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:

(show all 11)
idTitleAuthorsYear
1
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. (25653495)
2015
2
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. (23239541)
2013
3
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. (22822387)
2012
4
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (22770980)
2012
5
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. (22913728)
2012
6
New information, recommendations for Potocki-Shaffer syndrome. (20186793)
2010
7
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. (20140962)
2010
8
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. (15852040)
2005
9
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. (15666301)
2005
10
Potocki-Shaffer syndrome: report of one case. (14674231)
2003
11
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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Search GEO for disease gene expression data for Potocki-Shaffer Syndrome.

Pathways for genes affiliated with Potocki-Shaffer Syndrome

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GO Terms for genes affiliated with Potocki-Shaffer Syndrome

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Sources for Potocki-Shaffer Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet