POSHS
MCID: PTC001
MIFTS: 42

Potocki-Shaffer Syndrome (POSHS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

MalaCards integrated aliases for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 56 12 52 25 58 73 29 13 54 43 15
Proximal 11p Deletion Syndrome 56 12 52 25 58
Chromosome 11p11.2 Deletion Syndrome 56 25 73 71
11p11.2 Deletion 12 52 58
Pss 56 12 52
P11pds 56 25
Proximal 11p Deletion Syndrome; P11pds 56
Deletion of Chromosome 11p11.2 52
Syndrome, Potocki-Shaffer 39
Defect11 Syndrome 56
Poshs 73

Characteristics:

Orphanet epidemiological data:

58
potocki-shaffer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
potocki-shaffer syndrome:
Inheritance contiguous gene syndrome


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Potocki-Shaffer Syndrome

NIH Rare Diseases : 52 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 (non-cancerous) bone tumors called 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 proximal 11p deletion syndrome, is related to parietal foramina and systemic scleroderma. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome), and among its related pathways/superpathways is MicroRNAs in cancer. Affiliated tissues include bone, heart and kidney, and related phenotypes are global developmental delay and brachycephaly

Disease Ontology : 12 A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has material basis in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.

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. The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills. Many people with this condition have distinctive facial features, which can include a wide, short skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a shortened distance between the nose and upper lip (a short philtrum); and a downturned mouth. Less commonly, Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary tract.

OMIM : 56 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 : 73 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

Wikipedia : 74 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 301)
# Related Disease Score Top Affiliating Genes
1 parietal foramina 32.2 PHF21A EXT2 ALX4
2 systemic scleroderma 31.8 TRIM21 RO60 MIR200B ICOSLG CD40LG CCR6
3 connective tissue disease 31.1 TNFSF13B SSB MIR342 MIR223 MIR200B MIR18A
4 blood platelet disease 31.0 ICOSLG CD40LG CCR6
5 autoimmune disease 31.0 TRIM21 TNFSF13B RO60 ICOSLG CD40LG CCR6
6 pustulosis of palm and sole 30.9 SIGLEC5 CCR6
7 prostate disease 30.8 MIR223 MIR200B MIR18A ICOSLG CCR6
8 intestinal disease 30.8 MIR342 MIR200B MIR18A ICOSLG CCR6
9 lymphoma, mucosa-associated lymphoid type 30.7 TNFSF13B SIGLEC5 MIR200B ICOSLG CD40LG CCR6
10 sjogren syndrome 30.7 TRIM21 TNFSF13B SSB SPTAN1 RO60 CD40LG
11 sialadenitis 30.6 TRIM21 TNFSF13B SSB SPTAN1 SIGLEC5 RO60
12 peeling skin syndrome 1 12.2
13 peeling skin syndrome 12.1
14 generalized peeling skin syndrome 12.1
15 peeling skin syndrome 2 12.0
16 osteogenesis imperfecta, type xvi 11.7
17 parietal foramina 2 11.6
18 peeling skin syndrome 3 11.4
19 peeling skin syndrome 5 11.4
20 peeling skin syndrome 6 11.4
21 peeling skin syndrome type a 11.2
22 scleroderma, familial progressive 10.8
23 alacrima, achalasia, and mental retardation syndrome 10.8
24 childhood type dermatomyositis 10.7 TRIM21 ICOSLG CCR6
25 dacryoadenitis 10.7 SPTAN1 ICOSLG CCR6
26 igg4-related disease 10.7 TNFSF13B ICOSLG CCR6
27 heart block, congenital 10.7 TRIM21 SSB RO60
28 mononeuritis of upper limb and mononeuritis multiplex 10.7 TRIM21 SSB CD40LG
29 mononeuritis multiplex 10.7 TRIM21 SSB CD40LG
30 acute proliferative glomerulonephritis 10.7 ICOSLG CD40LG CCR6
31 parotid disease 10.7 TRIM21 SSB CD40LG
32 autoimmune disease of urogenital tract 10.7 ICOSLG CD40LG CCR6
33 parotitis 10.7 TRIM21 SSB CD40LG
34 endocardial fibroelastosis 10.7 TRIM21 SSB RO60
35 hyperglobulinemic purpura 10.7 TRIM21 TNFSF13B CD40LG
36 mulchandani-bhoj-conlin syndrome 10.7 ICOSLG CD40LG CCR6
37 lichen disease 10.7 ICOSLG CD40LG CCR6
38 hypersensitivity reaction type iii disease 10.7 ICOSLG CD40LG CCR6
39 mononeuropathy 10.7 TRIM21 SSB CD40LG
40 t cell deficiency 10.7 ICOSLG CD40LG CCR6
41 panuveitis 10.7 ICOSLG CD40LG CCR6
42 herpangina 10.7 ICOSLG CD40LG CCR6
43 bullous skin disease 10.7 ICOSLG CD40LG CCR6
44 coccidiosis 10.7 ICOSLG CD40LG CCR6
45 diffuse infiltrative lymphocytosis syndrome 10.7 TRIM21 SSB
46 conjunctival disease 10.7 ICOSLG CD40LG CCR6
47 myelitis 10.7 ICOSLG CD40LG CCR6
48 plasma protein metabolism disease 10.7 TNFSF13B CD40LG CCR6
49 autoimmune disease of skin and connective tissue 10.7 ICOSLG CD40LG CCR6
50 autoimmune disease of cardiovascular system 10.7 TRIM21 ICOSLG CD40LG CCR6

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:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 brachycephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000248
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 epicanthus 58 31 very rare (1%) Very frequent (99-80%) HP:0000286
5 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
6 exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0100777
7 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
8 depressed nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000437
9 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
10 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
11 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
12 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
13 downturned corners of mouth 58 31 very rare (1%) Frequent (79-30%) HP:0002714
14 micropenis 58 31 very rare (1%) Frequent (79-30%) HP:0000054
15 short philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000322
16 parietal foramina 58 31 very rare (1%) Frequent (79-30%) HP:0002697
17 craniofacial dysostosis 31 frequent (33%) HP:0004439
18 seizure 31 very rare (1%) HP:0001250
19 intellectual disability 58 31 very rare (1%) Occasional (29-5%) HP:0001249
20 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
21 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
22 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
23 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
24 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
25 cutaneous syndactyly between fingers 2 and 5 31 occasional (7.5%) HP:0005650
26 muscular hypotonia 31 very rare (1%) HP:0001252
27 brachydactyly 31 very rare (1%) HP:0001156
28 telecanthus 31 very rare (1%) HP:0000506
29 wormian bones 31 very rare (1%) HP:0002645
30 sparse lateral eyebrow 31 very rare (1%) HP:0005338
31 single transverse palmar crease 31 very rare (1%) HP:0000954
32 multiple exostoses 31 very rare (1%) HP:0002762
33 wide nasal bridge 31 HP:0000431
34 seizures 58 Frequent (79-30%)
35 short nose 31 HP:0003196
36 downslanted palpebral fissures 31 HP:0000494
37 turricephaly 31 HP:0000262
38 broad forehead 31 HP:0000337
39 high forehead 31 HP:0000348
40 delayed cranial suture closure 31 HP:0000270
41 abnormality of the male genitalia 31 HP:0010461

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
brachycephaly
enlarged anterior fontanel

Neurologic Behavioral Psychiatric Manifestations:
autism
sleep disturbances

Skeletal Hands:
brachydactyly
tapered fingers
exostoses single transverse palmar creases

Head And Neck Nose:
prominent nasal bridge
broad nasal tip
hypoplastic alae nasi
small upturned nose

Skeletal Feet:
exostoses

Head And Neck Ears:
hearing loss, sensorineural

Skin Nails Hair Hair:
sparse lateral eyebrows

Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
choroid plexus cyst
hypotonia
developmental delay
more
Head And Neck Eyes:
nystagmus
strabismus
myopia
blepharophimosis
epicanthal folds
more
Head And Neck Face:
micrognathia
short philtrum
broad forehead
high forehead

Genitourinary External Genitalia Male:
micropenis

Skeletal Limbs:
exostoses

Skeletal Skull:
wormian bones
enlarged anterior fontanel
bilateral parietal foramina

Head And Neck Mouth:
downturned mouth

Clinical features from OMIM:

601224

Drugs & Therapeutics for Potocki-Shaffer Syndrome

Search Clinical Trials , NIH Clinical Center for Potocki-Shaffer Syndrome

Cochrane evidence based reviews: 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:

40
Bone, Heart, Kidney, Brain

Publications for Potocki-Shaffer Syndrome

Articles related to Potocki-Shaffer Syndrome:

(show all 34)
# Title Authors PMID Year
1
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. 56 61 54
11903336 2001
2
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. 56 61
28127865 2017
3
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. 56 61
22770980 2012
4
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. 56 61
20140962 2010
5
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. 61 56
15852040 2005
6
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. 61 56
15702131 2005
7
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. 61 56
15666301 2005
8
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 56 61
11137991 2001
9
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. 61 56
11017806 2000
10
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. 56
16319823 2006
11
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation. 56
9512164 1998
12
Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. 56
9374397 1997
13
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. 56
8644736 1996
14
Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). 56
8882796 1996
15
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). 56
8558565 1995
16
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. 56
8456828 1993
17
An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation. 56
2363419 1990
18
Hypertension in Potocki-Shaffer syndrome: A case report. 61
30797056 2020
19
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 61
30487643 2019
20
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. 61
31649809 2019
21
Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells. 61
28571721 2018
22
Congenital biparietal foramina presenting with multiple concussions. 61
27058439 2016
23
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. 61
26333423 2015
24
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. 61
25653495 2015
25
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. 61
24376213 2014
26
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. 61
23239541 2013
27
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. 61
22913728 2012
28
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. 61
22822387 2012
29
New information, recommendations for Potocki-Shaffer syndrome. 61
20186793 2010
30
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. 61
19222835 2009
31
Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature. 61
17290930 2007
32
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. 61
14872200 2004
33
Potocki-Shaffer syndrome: report of one case. 61
14674231 2003
34
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. 61
12457403 2002

Variations for Potocki-Shaffer Syndrome

Copy number variations for Potocki-Shaffer Syndrome from CNVD:

7
# CNVD ID Chromosome 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

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

# Super pathways Score Top Affiliating Genes
1 11.59 MIR342 MIR223 MIR200B MIR19B1 MIR18A MIR16-1

GO Terms for Potocki-Shaffer Syndrome

Biological processes related to Potocki-Shaffer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 miRNA mediated inhibition of translation GO:0035278 9.43 MIR200B MIR19B1 MIR16-1
2 T cell costimulation GO:0031295 9.33 TNFSF13B ICOSLG CD40LG
3 negative regulation of vascular endothelial growth factor signaling pathway GO:1900747 9.32 MIR342 MIR16-1
4 gene silencing by miRNA GO:0035195 9.1 MIR342 MIR223 MIR200B MIR19B1 MIR18A MIR16-1
5 immunoglobulin secretion GO:0048305 8.96 TNFSF13B CD40LG

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.1 MIR342 MIR223 MIR200B MIR19B1 MIR18A MIR16-1

Sources for Potocki-Shaffer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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