MCID: PTC001
MIFTS: 38

Potocki-Shaffer Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

MalaCards integrated aliases for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 53 49 24 55 71 28 13 51
Chromosome 11p11.2 Deletion Syndrome 53 24 71 69
Proximal 11p Deletion Syndrome 53 49 24 55
11p11.2 Deletion 49 55
P11pds 53 24
Pss 53 49
Proximal 11p Deletion Syndrome; P11pds 53
Deletion of Chromosome 11p11.2 49
Defect11 Syndrome 53
Poshs 71

Characteristics:

Orphanet epidemiological data:

55
potocki-shaffer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
contiguous gene syndrome (11p13-p11 region)


HPO:

31
potocki-shaffer syndrome:
Inheritance contiguous gene syndrome


Classifications:



Summaries for Potocki-Shaffer Syndrome

NIH Rare Diseases : 49 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. 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. Last updated: 1/25/2018

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 seizures, nystagmus and hypothyroidism. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, brain and kidney.

OMIM : 53 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 : 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 : 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.

Related Diseases for Potocki-Shaffer Syndrome

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:

53
Skull:
brachycephaly
turricephaly
parietal foramina
craniofacial dysostosis

Limbs:
cutaneous syndactyly between fingers 2 and 5

Skel:
multiple exostoses

Neuro:
mental retardation


Clinical features from OMIM:

601224

Human phenotypes related to Potocki-Shaffer Syndrome:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 very rare (1%) Frequent (79-30%) HP:0001250
2 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
3 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
4 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
5 intellectual disability 55 31 very rare (1%) Occasional (29-5%) HP:0001249
6 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
8 brachycephaly 55 31 very rare (1%) Very frequent (99-80%) HP:0000248
9 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
10 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 exostoses 55 31 hallmark (90%) Very frequent (99-80%) HP:0100777
12 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
13 epicanthus 55 31 very rare (1%) Very frequent (99-80%) HP:0000286
14 prominent nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000426
15 underdeveloped nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0000430
16 short philtrum 55 31 very rare (1%) Frequent (79-30%) HP:0000322
17 downturned corners of mouth 55 31 very rare (1%) Frequent (79-30%) HP:0002714
18 broad nasal tip 55 31 hallmark (90%) Very frequent (99-80%) HP:0000455
19 nephroblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002667
20 depressed nasal tip 55 31 hallmark (90%) Very frequent (99-80%) HP:0000437
21 micropenis 55 31 very rare (1%) Frequent (79-30%) HP:0000054
22 decreased skull ossification 55 31 hallmark (90%) Very frequent (99-80%) HP:0004331
23 parietal foramina 55 31 very rare (1%) Frequent (79-30%) HP:0002697
24 muscular hypotonia 31 very rare (1%) HP:0001252
25 wide nasal bridge 31 HP:0000431
26 short nose 31 HP:0003196
27 wormian bones 31 very rare (1%) HP:0002645
28 telecanthus 31 very rare (1%) HP:0000506
29 broad forehead 31 HP:0000337
30 downslanted palpebral fissures 31 HP:0000494
31 brachydactyly 31 very rare (1%) HP:0001156
32 turricephaly 31 HP:0000262
33 high forehead 31 HP:0000348
34 sparse lateral eyebrow 31 very rare (1%) HP:0005338
35 single transverse palmar crease 31 very rare (1%) HP:0000954
36 delayed cranial suture closure 31 HP:0000270
37 abnormality of the male genitalia 31 HP:0010461
38 multiple exostoses 31 very rare (1%) HP:0002762
39 cutaneous syndactyly between fingers 2 and 5 31 occasional (7.5%) HP:0005650
40 craniofacial dysostosis 31 frequent (33%) HP:0004439

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 28

Anatomical Context for Potocki-Shaffer Syndrome

MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

38
Bone, Brain, Kidney, Heart

Publications for Potocki-Shaffer Syndrome

Articles related to Potocki-Shaffer Syndrome:

(show all 12)
# 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
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. ( 22913728 )
2012
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
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
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. ( 15666301 )
2005
10
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. ( 15852040 )
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
# 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:

# Name GO ID Score Top Affiliating Genes
1 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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