Details of Disease

General Information of Disease (ID: DISKGU59)

• Disease Name: Potocki-Shaffer syndrome
• Synonyms: Defect11 syndrome; deletion of chromosome 11p11.2; chromosome 11P11.2 deletion syndrome; PSS; proximal 11P deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion; proximal 11p deletion syndrome
• Definition: Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS6SVEE: Syndromic disease
  DIS0N11Z: Partial deletion of the short arm of chromosome 11
  DISKGU59: Potocki-Shaffer syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011022
  MESH ID: C538356
  UMLS CUI: C1832588
  OMIM ID: 601224
  MedGen ID: 318657
  Orphanet ID: 52022
  SNOMED CT ID: 702346005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CCR8	TTE836A	Strong	Altered Expression	[1]
IFNL1	TTM624L	Strong	Altered Expression	[2]
BLK	TTNDSC3	Definitive	Genetic Variation	[3]
VIPR2	TT4O5P0	Definitive	Altered Expression	[4]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALX4	OTNS9A29	Limited	Genetic Variation	[5]
EXT2	OT8IR5QN	Limited	Genetic Variation	[5]
MSX2	OT1WDKE1	Disputed	Biomarker	[6]
CCL25	OTLWJ8CJ	Strong	Biomarker	[7]
CDSN	OTQW4HV6	Strong	Genetic Variation	[8]
CHST8	OTQT4TKR	Strong	Genetic Variation	[9]
PHF21A	OTU3FFG4	Strong	Autosomal dominant	[10]
CDC42EP1	OTT525WA	Definitive	Biomarker	[11]
CNTRL	OTQI3VBA	Definitive	Biomarker	[11]
CST4	OTXXM8EH	Definitive	Altered Expression	[12]
EDA	OTAKS5WS	Definitive	Altered Expression	[13]
FAM167A	OT9JF3JQ	Definitive	Genetic Variation	[3]
FCRL4	OT3DVTRV	Definitive	Biomarker	[14]
GTF2I	OTUYL1TQ	Definitive	Genetic Variation	[15]
KLRB1	OTQ2959Y	Definitive	Biomarker	[16]
RO60	OTLGM5A8	Definitive	Genetic Variation	[17]
SSB	OTCCTPBR	Definitive	Altered Expression	[18]
SSNA1	OTWARAMR	Definitive	Biomarker	[19]

References

• [1] Upregulation and pathogenic roles of CCL18-CCR8 axis in IgG4-related disease.Mod Rheumatol. 2020 Jul;30(4):729-737. doi: 10.1080/14397595.2019.1632061. Epub 2019 Aug 8.
• [2] Increased expression of interferon- in minor salivary glands of patients with primary Sjgren's syndrome and its synergic effect with interferon- on salivary gland epithelial cells.Clin Exp Rheumatol. 2018 May-Jun;36 Suppl 112(3):31-40. Epub 2017 Apr 18.
• [3] Polymorphisms in the FAM167A-BLK, but not BANK1, are associated with primary Sjgren's syndrome in a Han Chinese population.Clin Exp Rheumatol. 2013 Sep-Oct;31(5):704-10. Epub 2013 Jul 30.
• [4] Monocytes from Sjgren's syndrome patients display increased vasoactive intestinal peptide receptor 2 expression and impaired apoptotic cell phagocytosis.Clin Exp Immunol. 2014 Sep;177(3):662-70. doi: 10.1111/cei.12378.
• [5] A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.Am J Med Genet A. 2015 Dec;167A(12):3011-8. doi: 10.1002/ajmg.a.37344. Epub 2015 Sep 3.
• [6] Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.Eur J Hum Genet. 2004 May;12(5):400-6. doi: 10.1038/sj.ejhg.5201163.
• [7] Decreased circulating CXCR3+CCR9+T helper cells are associated with elevated levels of their ligands CXCL10 and CCL25 in the salivary gland of patients with Sjgren's syndrome to facilitate their concerted migration.Scand J Immunol. 2020 Mar;91(3):e12852. doi: 10.1111/sji.12852. Epub 2019 Dec 13.
• [8] Inflammatory peeling skin syndrome caused a novel mutation in CDSN.Arch Dermatol Res. 2012 Apr;304(3):251-5. doi: 10.1007/s00403-011-1195-z. Epub 2011 Dec 7.
• [9] Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics. 2012 Apr;99(4):202-8. doi: 10.1016/j.ygeno.2012.01.005. Epub 2012 Jan 25.
• [10] The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients. Clin Dysmorphol. 2023 Apr 1;32(2):49-54. doi: 10.1097/MCD.0000000000000455. Epub 2023 Feb 21.
• [11] Antibodies against citrullinated alpha enolase peptides in primary Sjogren's syndrome.Clin Immunol. 2017 Oct;183:300-303. doi: 10.1016/j.clim.2017.09.012. Epub 2017 Sep 14.
• [12] Cystatin S-a candidate biomarker for severity of submandibular gland involvement in Sjgren's syndrome.Rheumatology (Oxford). 2017 Jun 1;56(6):1031-1038. doi: 10.1093/rheumatology/kew501.
• [13] X-linked ectodermal dysplasia receptor (XEDAR) gene silencing prevents caspase-3-mediated apoptosis in Sjgren's syndrome.Clin Exp Med. 2017 Feb;17(1):111-119. doi: 10.1007/s10238-015-0404-z. Epub 2015 Dec 11.
• [14] FcRL4(+) B-cells in salivary glands of primary Sjgren's syndrome patients.J Autoimmun. 2017 Jul;81:90-98. doi: 10.1016/j.jaut.2017.03.012. Epub 2017 Apr 6.
• [15] Identification of susceptibility gene associated with female primary Sjgren's syndrome in Han Chinese by genome-wide association study.Hum Genet. 2016 Nov;135(11):1287-1294. doi: 10.1007/s00439-016-1716-0. Epub 2016 Aug 8.
• [16] Clinical relevance of ROR positive and negative subsets of CD161+CD4+ T cells in primary Sjgren's syndrome.Rheumatology (Oxford). 2017 Feb;56(2):303-312. doi: 10.1093/rheumatology/kew360. Epub 2016 Nov 1.
• [17] Autoantibody repertoire to Ro/SSA and La/SSB antigens in patients with primary and secondary Sjgren's syndrome.J Autoimmun. 1996 Aug;9(4):537-44. doi: 10.1006/jaut.1996.0072.
• [18] Hypokalaemia in Sjgren's syndrome: the missing piece.Clin Med (Lond). 2017 Feb;17(1):40-42. doi: 10.7861/clinmedicine.17-1-40.
• [19] The orthologue of Sjgren's syndrome nuclear autoantigen 1 (SSNA1) in Trypanosoma brucei is an immunogenic self-assembling molecule.PLoS One. 2012;7(2):e31842. doi: 10.1371/journal.pone.0031842. Epub 2012 Feb 20.