MCID: PTC001
MIFTS: 36

Potocki-Shaffer Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 50 46 23 24 52 68 25 12 48
Chromosome 11p11.2 Deletion Syndrome 24 68 66
Proximal 11p Deletion Syndrome 46 24 52
11p11.2 Deletion 46 52
Deletion of Chromosome 11p11.2 46
 
11p11.2 Deletion Syndrome 23
P11pds 24
Poshs 68
Pss 46

Characteristics:

Orphanet epidemiological data:

52
potocki-shaffer syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
potocki-shaffer syndrome:
Inheritance: contiguous gene syndrome


Classifications:



External Ids:

OMIM50 601224
Orphanet52 ORPHA52022
ICD10 via Orphanet29 Q93.5
MESH via Orphanet38 C538356
UMLS via Orphanet67 C1832588
MedGen35 C1832588
MeSH37 D002872

Summaries for Potocki-Shaffer Syndrome

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NIH Rare Diseases:46 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 decreased skull ossification, cognitive impairment and exostoses. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, kidney and brain.

UniProtKB/Swiss-Prot:68 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

Genetics Home Reference:24 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:50 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 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:

 52 (show all 23)
  • micropenis
  • brachycephaly
  • epicanthus
  • short philtrum
  • micrognathia
  • prominent nasal bridge
  • underdeveloped nasal alae
  • depressed nasal tip
  • broad nasal tip
  • strabismus
  • nystagmus
  • hypothyroidism
  • hypertension
  • delayed puberty
  • intellectual disability
  • seizures
  • global developmental delay
  • anemia
  • nephroblastoma (wilms tumor)
  • parietal foramina
  • downturned corners of mouth
  • decreased skull ossification
  • exostoses

HPO human phenotypes related to Potocki-Shaffer Syndrome:

(show all 32)
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 short nose HP:0003196

Drugs & Therapeutics for Potocki-Shaffer Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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 Syndrome25 23

Anatomical Context for Potocki-Shaffer Syndrome

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MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

34
Bone, Kidney, Brain, Heart

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
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. (22913728)
2012
4
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. (22822387)
2012
5
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (22770980)
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
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. (15666301)
2005
9
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. (15852040)
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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Copy number variations for Potocki-Shaffer Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
152916112160000036400000DeletionPotocki-Shaffer syndrome
253591113100000043400000DeletionPotocki-Shaffer syndrome
353596113100000052900000DeletionPAX6Potocki-Shaffer syndrome
453598113100000052900000DeletionWT1Potocki-Shaffer syndrome
554383114340000048800000MicrodeletionPotocki-Shaffer syndrome

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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Molecular functions related to Potocki-Shaffer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.4ALX4, PHF21A
2protein heterodimerization activityGO:00469829.0ALX4, EXT2

Sources for Potocki-Shaffer Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet