MCID: PTC001
MIFTS: 39

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 57 53 25 59 75 29 13 55
Chromosome 11p11.2 Deletion Syndrome 57 25 75 73
Proximal 11p Deletion Syndrome 57 53 25 59
11p11.2 Deletion 53 59
P11pds 57 25
Pss 57 53
Proximal 11p Deletion Syndrome; P11pds 57
Deletion of Chromosome 11p11.2 53
Syndrome Potocki-Shaffer ) 40
Defect11 Syndrome 57
Poshs 75

Characteristics:

Orphanet epidemiological data:

59
potocki-shaffer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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 : 53 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, brain and kidney, and related phenotypes are nystagmus and hypothyroidism

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 : 57 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 : 75 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

Wikipedia : 76 Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome,... more...

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:

57
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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
4 intellectual disability 59 32 very rare (1%) Occasional (29-5%) HP:0001249
5 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
8 brachycephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0000248
9 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
10 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
11 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
12 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
13 epicanthus 59 32 very rare (1%) Very frequent (99-80%) HP:0000286
14 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
15 underdeveloped nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000430
16 short philtrum 59 32 very rare (1%) Frequent (79-30%) HP:0000322
17 downturned corners of mouth 59 32 very rare (1%) Frequent (79-30%) HP:0002714
18 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
19 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
20 depressed nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000437
21 micropenis 59 32 very rare (1%) Frequent (79-30%) HP:0000054
22 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
23 parietal foramina 59 32 very rare (1%) Frequent (79-30%) HP:0002697
24 muscular hypotonia 32 very rare (1%) HP:0001252
25 wide nasal bridge 32 HP:0000431
26 short nose 32 HP:0003196
27 wormian bones 32 very rare (1%) HP:0002645
28 telecanthus 32 very rare (1%) HP:0000506
29 broad forehead 32 HP:0000337
30 downslanted palpebral fissures 32 HP:0000494
31 brachydactyly 32 very rare (1%) HP:0001156
32 turricephaly 32 HP:0000262
33 high forehead 32 HP:0000348
34 sparse lateral eyebrow 32 very rare (1%) HP:0005338
35 single transverse palmar crease 32 very rare (1%) HP:0000954
36 delayed cranial suture closure 32 HP:0000270
37 abnormality of the male genitalia 32 HP:0010461
38 multiple exostoses 32 very rare (1%) HP:0002762
39 cutaneous syndactyly between fingers 2 and 5 32 occasional (7.5%) HP:0005650
40 craniofacial dysostosis 32 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 29

Anatomical Context for Potocki-Shaffer Syndrome

MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

41
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
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

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 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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