Potocki-Shaffer Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Potocki-Shaffer Syndrome

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12diseasecard, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Potocki-Shaffer Syndrome:

Name: Potocki-Shaffer Syndrome 51 47 24 25 53 69 26 12 49
Chromosome 11p11.2 Deletion Syndrome 25 69 67
Proximal 11p Deletion Syndrome 47 25 53
11p11.2 Deletion 47 53
Deletion of Chromosome 11p11.2 47
11p11.2 Deletion Syndrome 24
P11pds 25
Poshs 69
Pss 47


Orphanet epidemiological data:

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


potocki-shaffer syndrome:
Inheritance: contiguous gene syndrome


External Ids:

OMIM51 601224
Orphanet53 ORPHA52022
MESH via Orphanet39 C538356
UMLS via Orphanet68 C1832588
ICD10 via Orphanet30 Q93.5
MedGen36 C1832588
MeSH38 D002872

Summaries for Potocki-Shaffer Syndrome

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NIH Rare Diseases:47 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 peeling skin syndrome 1 and peeling skin syndrome 2, and has symptoms including decreased skull ossification, cognitive impairment and exostoses. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, kidney and brain.

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:51 Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2... (601224) more...

UniProtKB/Swiss-Prot:69 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.

Related Diseases for Potocki-Shaffer Syndrome

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Graphical network of diseases related to Potocki-Shaffer Syndrome:

Diseases related to potocki-shaffer syndrome

Symptoms for Potocki-Shaffer Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Potocki-Shaffer Syndrome:

 63 53 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased skull ossification63 53 hallmark (90%) Very frequent (99-80%) HP:0004331
2 cognitive impairment63 hallmark (90%) HP:0100543
3 exostoses63 53 hallmark (90%) Very frequent (99-80%) HP:0100777
4 craniofacial dysostosis63 frequent (33%) HP:0004439
5 multiple exostoses63 10% HP:0002762
6 parietal foramina63 53 9% Frequent (79-30%) HP:0002697
7 downturned corners of mouth63 53 8% Frequent (79-30%) HP:0002714
8 intellectual disability63 53 7% Occasional (29-5%) HP:0001249
9 brachycephaly63 53 6% Very frequent (99-80%) HP:0000248
10 short philtrum63 53 6% Frequent (79-30%) HP:0000322
11 sparse lateral eyebrow63 6% HP:0005338
12 micropenis63 53 rare (5%) Frequent (79-30%) HP:0000054
13 single transverse palmar crease63 rare (5%) HP:0000954
14 brachydactyly syndrome63 rare (5%) HP:0001156
15 muscular hypotonia63 rare (5%) HP:0001252
16 cutaneous syndactyly between fingers 2 and 563 rare (5%) HP:0005650
17 epicanthus63 53 4% Very frequent (99-80%) HP:0000286
18 telecanthus63 4% HP:0000506
19 wormian bones63 3% HP:0002645
20 seizures63 53 2% Frequent (79-30%) HP:0001250
21 delayed cranial suture closure63 HP:0000270
22 abnormality of the male genitalia63 HP:0010461
23 turricephaly63 HP:0000262
24 broad forehead63 HP:0000337
25 high forehead63 HP:0000348
26 underdeveloped nasal alae63 53 Very frequent (99-80%) HP:0000430
27 wide nasal bridge63 HP:0000431
28 downslanted palpebral fissures63 HP:0000494
29 short nose63 HP:0003196
30 micrognathia53 Very frequent (99-80%)
31 prominent nasal bridge53 Very frequent (99-80%)
32 depressed nasal tip53 Very frequent (99-80%)
33 broad nasal tip53 Very frequent (99-80%)
34 strabismus53 Frequent (79-30%)
35 nystagmus53 Frequent (79-30%)
36 hypothyroidism53 Occasional (29-5%)
37 hypertension53 Occasional (29-5%)
38 delayed puberty53 Occasional (29-5%)
39 global developmental delay53 Very frequent (99-80%)
40 anemia53 Occasional (29-5%)
41 nephroblastoma (wilms tumor)53 Occasional (29-5%)

Drugs & Therapeutics for Potocki-Shaffer Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Potocki-Shaffer Syndrome

Genetic Tests for Potocki-Shaffer Syndrome

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Genetic tests related to Potocki-Shaffer Syndrome:

id Genetic test Affiliating Genes
1 Potocki-Shaffer Syndrome26 24

Anatomical Context for Potocki-Shaffer Syndrome

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MalaCards organs/tissues related to Potocki-Shaffer Syndrome:

Bone, Kidney, Brain, Heart

Animal Models for Potocki-Shaffer Syndrome or affiliated genes

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Publications for Potocki-Shaffer Syndrome

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Articles related to Potocki-Shaffer Syndrome:

(show all 11)
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. (25653495)
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. (23239541)
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome. (22913728)
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation. (22822387)
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (22770980)
New information, recommendations for Potocki-Shaffer syndrome. (20186793)
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. (20140962)
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. (15666301)
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. (15852040)
Potocki-Shaffer syndrome: report of one case. (14674231)
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. (11903336)

Variations for Potocki-Shaffer Syndrome

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Copy number variations for Potocki-Shaffer Syndrome from CNVD:

id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
152916112160000036400000DeletionPotocki-Shaffer syndrome
253591113100000043400000DeletionPotocki-Shaffer syndrome
353596113100000052900000DeletionPAX6Potocki-Shaffer syndrome
453598113100000052900000DeletionWT1Potocki-Shaffer syndrome
554383114340000048800000MicrodeletionPotocki-Shaffer syndrome

Expression for genes affiliated with Potocki-Shaffer Syndrome

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

Pathways for genes affiliated with Potocki-Shaffer Syndrome

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GO Terms for genes affiliated with Potocki-Shaffer Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.3ALX4, PHF21A
2protein heterodimerization activityGO:00469829.0ALX4, EXT2

Sources for Potocki-Shaffer Syndrome

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30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet