MCID: PTC001
MIFTS: 38

Potocki-Shaffer Syndrome

Categories: Rare diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

MalaCards integrated aliases for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 54 50 24 25 56 71 29 13 52
Chromosome 11p11.2 Deletion Syndrome 25 71 69
Proximal 11p Deletion Syndrome 50 25 56
11p11.2 Deletion 50 56
Deletion of Chromosome 11p11.2 50
11p11.2 Deletion Syndrome 24
P11pds 25
Poshs 71
Pss 50

Characteristics:

Orphanet epidemiological data:

56
potocki-shaffer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
contiguous gene syndrome (11p13-p11 region)


HPO:

32
potocki-shaffer syndrome:
Inheritance contiguous gene syndrome


Classifications:



Summaries for Potocki-Shaffer Syndrome

NIH Rare Diseases : 50 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 generalized peeling skin syndrome and peeling skin syndrome 1, and has symptoms including nystagmus, strabismus and seizures. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, heart and kidney.

UniProtKB/Swiss-Prot : 71 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

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 : 54
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (605957) (summary by Swarr et al., 2010). (601224)

Related Diseases for Potocki-Shaffer Syndrome

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

(show all 19)
id Related Disease Score Top Affiliating Genes
1 generalized peeling skin syndrome 11.6
2 peeling skin syndrome 1 11.5
3 peeling skin syndrome 2 11.5
4 peeling skin syndrome 3 11.5
5 osteogenesis imperfecta, type xvi 11.2
6 parietal foramina 2 11.2
7 systemic scleroderma 11.1
8 peeling skin syndrome 5 11.0
9 psychosocial short stature 10.8
10 peeling skin syndrome 10.8
11 intellectual disability 10.4
12 hypotonia 10.2
13 hepatitis 9.8
14 hereditary hemorrhagic telangiectasia 9.8
15 granulomatous hepatitis 9.8
16 localized scleroderma 9.8
17 breast cancer 9.8
18 alcohol dependence 9.8
19 congenital disorder of glycosylation, type iic 8.4 ALX4 EXT2 PHF21A PSS

Graphical network of the top 20 diseases related to Potocki-Shaffer Syndrome:



Diseases related to Potocki-Shaffer Syndrome

Symptoms & Phenotypes for Potocki-Shaffer Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neuro:
mental retardation

Skel:
multiple exostoses

Skull:
brachycephaly
turricephaly
parietal foramina
craniofacial dysostosis

Limbs:
cutaneous syndactyly between fingers 2 and 5


Clinical features from OMIM:

601224

Human phenotypes related to Potocki-Shaffer Syndrome:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 seizures 56 32 very rare (1%) Frequent (79-30%) HP:0001250
4 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
5 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 micropenis 56 32 very rare (1%) Frequent (79-30%) HP:0000054
7 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 broad nasal tip 56 32 hallmark (90%) Very frequent (99-80%) HP:0000455
9 short philtrum 56 32 very rare (1%) Frequent (79-30%) HP:0000322
10 intellectual disability 56 32 very rare (1%) Occasional (29-5%) HP:0001249
11 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
12 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
13 brachycephaly 56 32 very rare (1%) Very frequent (99-80%) HP:0000248
14 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
15 epicanthus 56 32 very rare (1%) Very frequent (99-80%) HP:0000286
16 downturned corners of mouth 56 32 very rare (1%) Frequent (79-30%) HP:0002714
17 prominent nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000426
18 depressed nasal tip 56 32 hallmark (90%) Very frequent (99-80%) HP:0000437
19 decreased skull ossification 56 32 hallmark (90%) Very frequent (99-80%) HP:0004331
20 parietal foramina 56 32 very rare (1%) Frequent (79-30%) HP:0002697
21 nephroblastoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002667
22 exostoses 56 32 hallmark (90%) Very frequent (99-80%) HP:0100777
23 underdeveloped nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0000430
24 brachydactyly 32 very rare (1%) HP:0001156
25 high forehead 32 HP:0000348
26 wormian bones 32 very rare (1%) HP:0002645
27 short nose 32 HP:0003196
28 telecanthus 32 very rare (1%) HP:0000506
29 broad forehead 32 HP:0000337
30 wide nasal bridge 32 HP:0000431
31 downslanted palpebral fissures 32 HP:0000494
32 muscular hypotonia 32 very rare (1%) HP:0001252
33 single transverse palmar crease 32 very rare (1%) HP:0000954
34 turricephaly 32 HP:0000262
35 craniofacial dysostosis 32 frequent (33%) HP:0004439
36 multiple exostoses 32 very rare (1%) HP:0002762
37 cutaneous syndactyly between fingers 2 and 5 32 occasional (7.5%) HP:0005650
38 sparse lateral eyebrow 32 very rare (1%) HP:0005338
39 delayed cranial suture closure 32 HP:0000270
40 abnormality of the male genitalia 32 HP:0010461

Drugs & Therapeutics for Potocki-Shaffer Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Potocki-Shaffer Syndrome

Genetic Tests for Potocki-Shaffer Syndrome

Genetic tests related to Potocki-Shaffer Syndrome:

id Genetic test Affiliating Genes
1 Potocki-Shaffer Syndrome 29 24

Anatomical Context for Potocki-Shaffer Syndrome

MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

39
Bone, Heart, Kidney, Brain

Publications for Potocki-Shaffer Syndrome

Articles related to Potocki-Shaffer Syndrome:

(show all 12)
id Title Authors Year
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
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. ( 22770980 )
2012
5
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. ( 22822387 )
2012
6
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. ( 22913728 )
2012
7
New information, recommendations for Potocki-Shaffer syndrome. ( 20186793 )
2010
8
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. ( 20140962 )
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

Copy number variations for Potocki-Shaffer Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 52916 11 21600000 36400000 Deletion Potocki-Shaffer syndrome
2 53591 11 31000000 43400000 Deletion Potocki-Shaffer syndrome
3 53596 11 31000000 52900000 Deletion PAX6 Potocki-Shaffer syndrome
4 53598 11 31000000 52900000 Deletion WT1 Potocki-Shaffer syndrome
5 54383 11 43400000 48800000 Microdeletion Potocki-Shaffer syndrome

Expression for Potocki-Shaffer Syndrome

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

Pathways for Potocki-Shaffer Syndrome

GO Terms for Potocki-Shaffer Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 8.96 ALX4 EXT2
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 ALX4 PHF21A

Sources for Potocki-Shaffer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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