POSHS
MCID: PTC001
MIFTS: 36

Potocki-Shaffer Syndrome (POSHS) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

About this section
Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 52 48 24 25 54 70 27 12 50
Chromosome 11p11.2 Deletion Syndrome 25 70 68
Proximal 11p Deletion Syndrome 48 25 54
11p11.2 Deletion 48 54
Deletion of Chromosome 11p11.2 48
 
11p11.2 Deletion Syndrome 24
P11pds 25
Poshs 70
Pss 48

Characteristics:

Orphanet epidemiological data:

54
potocki-shaffer syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
potocki-shaffer syndrome:
Inheritance: contiguous gene syndrome

Classifications:



External Ids:

OMIM52 601224
Orphanet54 ORPHA52022
MESH via Orphanet40 C538356
UMLS via Orphanet69 C1832588
ICD10 via Orphanet31 Q93.5
MedGen37 C1832588
MeSH39 D002872

Summaries for Potocki-Shaffer Syndrome

About this section
NIH Rare Diseases:48 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 1 and peeling skin syndrome 2, and has symptoms including Array, Array and Array. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, kidney and brain.

Genetics Home Reference:25 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:52 Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2... (601224) more...

UniProtKB/Swiss-Prot:70 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

Related Diseases for Potocki-Shaffer Syndrome

About this section

Graphical network of diseases related to Potocki-Shaffer Syndrome:



Diseases related to potocki-shaffer syndrome

Symptoms & Phenotypes for Potocki-Shaffer Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

601224

Clinical features from OMIM:

601224

Human phenotypes related to Potocki-Shaffer Syndrome:

 54 64 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micropenis64 54 Frequent (79-30%) HP:0000054
2 brachycephaly64 54 Very frequent (99-80%) HP:0000248
3 epicanthus64 54 Very frequent (99-80%) HP:0000286
4 short philtrum64 54 Frequent (79-30%) HP:0000322
5 micrognathia64 54 Very frequent (99-80%) HP:0000347
6 prominent nasal bridge64 54 Very frequent (99-80%) HP:0000426
7 underdeveloped nasal alae64 54 Very frequent (99-80%) HP:0000430
8 depressed nasal tip64 54 Very frequent (99-80%) HP:0000437
9 broad nasal tip64 54 Very frequent (99-80%) HP:0000455
10 strabismus64 54 Frequent (79-30%) HP:0000486
11 nystagmus64 54 Frequent (79-30%) HP:0000639
12 hypothyroidism64 54 Occasional (29-5%) HP:0000821
13 hypertension64 54 Occasional (29-5%) HP:0000822
14 delayed puberty64 54 Occasional (29-5%) HP:0000823
15 intellectual disability64 54 Occasional (29-5%) HP:0001249
16 seizures64 54 Frequent (79-30%) HP:0001250
17 global developmental delay64 54 Very frequent (99-80%) HP:0001263
18 anemia64 54 Occasional (29-5%) HP:0001903
19 nephroblastoma64 54 Occasional (29-5%) HP:0002667
20 parietal foramina64 54 Frequent (79-30%) HP:0002697
21 downturned corners of mouth64 54 Frequent (79-30%) HP:0002714
22 decreased skull ossification64 54 Very frequent (99-80%) HP:0004331
23 exostoses64 54 Very frequent (99-80%) HP:0100777
24 delayed cranial suture closure64 HP:0000270
25 multiple exostoses64 HP:0002762
26 abnormality of the male genitalia64 HP:0010461
27 turricephaly64 HP:0000262
28 broad forehead64 HP:0000337
29 high forehead64 HP:0000348
30 wide nasal bridge64 HP:0000431
31 downslanted palpebral fissures64 HP:0000494
32 telecanthus64 HP:0000506
33 single transverse palmar crease64 HP:0000954
34 brachydactyly syndrome64 HP:0001156
35 muscular hypotonia64 HP:0001252
36 wormian bones64 HP:0002645
37 short nose64 HP:0003196
38 craniofacial dysostosis64 HP:0004439
39 sparse lateral eyebrow64 HP:0005338
40 cutaneous syndactyly between fingers 2 and 564 HP:0005650

Drugs & Therapeutics for Potocki-Shaffer Syndrome

About this section

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

About this section

Genetic tests related to Potocki-Shaffer Syndrome:

id Genetic test Affiliating Genes
1 Potocki-Shaffer Syndrome27 24

Anatomical Context for Potocki-Shaffer Syndrome

About this section

MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

36
Bone, Kidney, Brain, Heart

Publications for Potocki-Shaffer Syndrome

About this section

Articles related to Potocki-Shaffer Syndrome:

(show all 12)
idTitleAuthorsYear
1
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. (28127865)
2017
2
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. (25653495)
2015
3
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. (23239541)
2013
4
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. (22822387)
2012
5
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. (22913728)
2012
6
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (22770980)
2012
7
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. (20140962)
2010
8
New information, recommendations for Potocki-Shaffer syndrome. (20186793)
2010
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
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. (15666301)
2005
11
Potocki-Shaffer syndrome: report of one case. (14674231)
2003
12
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. (11903336)
2001

Variations for Potocki-Shaffer Syndrome

About this section

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

About this section
Search GEO for disease gene expression data for Potocki-Shaffer Syndrome.

Pathways for genes affiliated with Potocki-Shaffer Syndrome

About this section

GO Terms for genes affiliated with Potocki-Shaffer Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:00469829.6ALX4, EXT2
2RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.3ALX4, PHF21A

Sources for Potocki-Shaffer Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet