POSHS
MCID: PTC001
MIFTS: 37

Potocki-Shaffer Syndrome (POSHS)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

MalaCards integrated aliases for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 58 54 26 60 76 30 13 56
Chromosome 11p11.2 Deletion Syndrome 58 26 76 74
Proximal 11p Deletion Syndrome 58 54 26 60
11p11.2 Deletion 54 60
P11pds 58 26
Pss 58 54
Proximal 11p Deletion Syndrome; P11pds 58
Deletion of Chromosome 11p11.2 54
Syndrome, Potocki-Shaffer ) 41
Defect11 Syndrome 58
Poshs 76

Characteristics:

Orphanet epidemiological data:

60
potocki-shaffer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
contiguous gene syndrome (11p13-p11 region)


HPO:

33
potocki-shaffer syndrome:
Inheritance contiguous gene syndrome


Classifications:



Summaries for Potocki-Shaffer Syndrome

NIH Rare Diseases : 54 Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletionsin 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 (non-cancerous) bone tumorscalled exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism spectrum disorder,  and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. Multiple other features or health problems have been reported in individual cases. 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 (openings in the two bones that form the top and sides of the skull), while the loss of another gene, EXT2, causes the multiple exostoses (benign bone tumors). 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 and evaluation for vision and hearing problems at the time of diagnosis is recommended. A full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, should also be completed.

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. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, skin and brain, and related phenotypes are global developmental delay and brachycephaly

Genetics Home Reference : 26 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 : 58 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)

UniProtKB/Swiss-Prot : 76 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

Wikipedia : 77 Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome,... more...

Related Diseases for Potocki-Shaffer Syndrome

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 generalized peeling skin syndrome 12.0
2 peeling skin syndrome 1 11.9
3 peeling skin syndrome 2 11.8
4 osteogenesis imperfecta, type xvi 11.5
5 parietal foramina 2 11.5
6 systemic scleroderma 11.4
7 peeling skin syndrome 3 11.3
8 peeling skin syndrome 5 11.3
9 peeling skin syndrome 6 11.3
10 peeling skin syndrome 11.1
11 peeling skin syndrome type a 11.1
12 alacrima, achalasia, and mental retardation syndrome 10.6
13 scleroderma, familial progressive 10.4
14 hypertension, essential 10.4
15 hypotonia 10.4
16 sjogren syndrome 10.3
17 skin disease 10.2
18 dermatitis 10.2
19 rheumatoid arthritis 10.1
20 frontotemporal dementia 10.0
21 body mass index quantitative trait locus 1 10.0
22 dementia 10.0
23 epilepsy 10.0
24 alcohol dependence 9.9
25 breast cancer 9.9
26 popliteal pterygium syndrome 9.9
27 lymphoma, mucosa-associated lymphoid type 9.9
28 hashimoto thyroiditis 9.9
29 raynaud disease 9.9
30 tetralogy of fallot 9.9
31 triiodothyronine receptor auxiliary protein 9.9
32 autism 9.9
33 polycythemia vera 9.9
34 intraocular pressure quantitative trait locus 9.9
35 membranous nephropathy 9.9
36 nevus comedonicus 9.9
37 hepatitis 9.9
38 hereditary hemorrhagic telangiectasia 9.9
39 joint disorders 9.9
40 autism spectrum disorder 9.9
41 lymphoma 9.9
42 crest syndrome 9.9
43 portal hypertension 9.9
44 telangiectasis 9.9
45 granulomatous hepatitis 9.9
46 arthropathy 9.9
47 connective tissue disease 9.9
48 cerebrovascular disease 9.9
49 thyroiditis 9.9
50 localized scleroderma 9.9

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



Diseases related to Potocki-Shaffer Syndrome

Symptoms & Phenotypes for Potocki-Shaffer Syndrome

Human phenotypes related to Potocki-Shaffer Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 brachycephaly 60 33 very rare (1%) Very frequent (99-80%) HP:0000248
3 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
4 exostoses 60 33 hallmark (90%) Very frequent (99-80%) HP:0100777
5 epicanthus 60 33 very rare (1%) Very frequent (99-80%) HP:0000286
6 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
7 underdeveloped nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000430
8 broad nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000455
9 depressed nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000437
10 decreased skull ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0004331
11 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
12 seizures 60 33 very rare (1%) Frequent (79-30%) HP:0001250
13 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
14 short philtrum 60 33 very rare (1%) Frequent (79-30%) HP:0000322
15 downturned corners of mouth 60 33 very rare (1%) Frequent (79-30%) HP:0002714
16 micropenis 60 33 very rare (1%) Frequent (79-30%) HP:0000054
17 parietal foramina 60 33 very rare (1%) Frequent (79-30%) HP:0002697
18 craniofacial dysostosis 33 frequent (33%) HP:0004439
19 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
20 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
21 intellectual disability 60 33 very rare (1%) Occasional (29-5%) HP:0001249
22 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
23 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
24 nephroblastoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002667
25 cutaneous syndactyly between fingers 2 and 5 33 occasional (7.5%) HP:0005650
26 muscular hypotonia 33 very rare (1%) HP:0001252
27 wormian bones 33 very rare (1%) HP:0002645
28 telecanthus 33 very rare (1%) HP:0000506
29 brachydactyly 33 very rare (1%) HP:0001156
30 sparse lateral eyebrow 33 very rare (1%) HP:0005338
31 single transverse palmar crease 33 very rare (1%) HP:0000954
32 multiple exostoses 33 very rare (1%) HP:0002762
33 wide nasal bridge 33 HP:0000431
34 short nose 33 HP:0003196
35 broad forehead 33 HP:0000337
36 downslanted palpebral fissures 33 HP:0000494
37 turricephaly 33 HP:0000262
38 high forehead 33 HP:0000348
39 delayed cranial suture closure 33 HP:0000270
40 abnormality of the male genitalia 33 HP:0010461

Symptoms via clinical synopsis from OMIM:

58
Skull:
brachycephaly
turricephaly
craniofacial dysostosis
parietal foramina

Limbs:
cutaneous syndactyly between fingers 2 and 5

Skel:
multiple exostoses

Neuro:
mental retardation

Clinical features from OMIM:

601224

Drugs & Therapeutics for Potocki-Shaffer Syndrome

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Potocki-Shaffer Syndrome 30

Anatomical Context for Potocki-Shaffer Syndrome

MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

42
Bone, Skin, Brain, Kidney, Heart, Thyroid

Publications for Potocki-Shaffer Syndrome

Articles related to Potocki-Shaffer Syndrome:

(show all 13)
# Title Authors Year
1
Hypertension in Potocki-Shaffer syndrome: A case report. ( 30797056 )
2019
2
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. ( 28127865 )
2017
3
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. ( 25653495 )
2015
4
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. ( 23239541 )
2013
5
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. ( 22770980 )
2012
6
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. ( 22822387 )
2012
7
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. ( 22913728 )
2012
8
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. ( 20140962 )
2010
9
New information, recommendations for Potocki-Shaffer syndrome. ( 20186793 )
2010
10
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. ( 15666301 )
2005
11
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. ( 15852040 )
2005
12
Potocki-Shaffer syndrome: report of one case. ( 14674231 )
2003
13
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
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 54383 11 43400000 48800000 Microdeletion Potocki-Shaffer syndrome
2 53598 11 31000000 52900000 Deletion WT1 Potocki-Shaffer syndrome
3 53596 11 31000000 52900000 Deletion PAX6 Potocki-Shaffer syndrome
4 53591 11 31000000 43400000 Deletion Potocki-Shaffer syndrome
5 52916 11 21600000 36400000 Deletion 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

Sources for Potocki-Shaffer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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