Details of Disease

General Information of Disease (ID: DIS36OT6)

Disease Name Brooke-Spiegler syndrome
Synonyms Spiegler-Brooke syndrome; BRSS; Bss; CYLD cutaneous syndrome; Brooke-Spiegler syndrome
Definition
Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.|Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163).
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DIS3HIWD: Autosomal dominant disease
DIS36OT6: Brooke-Spiegler syndrome
Disease Identifiers
MONDO ID
MONDO_0011512
MESH ID
C536611
UMLS CUI
C1857941
OMIM ID
605041
MedGen ID
346703
Orphanet ID
79493
SNOMED CT ID
703531009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GCG TT6Y4PN Limited Biomarker [1]
PNPLA6 TTWAQU2 Limited Altered Expression [2]
SLC15A1 TT5LF3C Limited Altered Expression [3]
GP1BA TTVB0Q9 Strong Genetic Variation [4]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GFM1 OTUN4V3N Limited Genetic Variation [5]
SPINK4 OTHTCW94 Limited Biomarker [6]
TAPBP OTL81AVZ Limited Biomarker [7]
GP1BB OTD7XNLL Strong Biomarker [8]
GP9 OTA19OKO Strong Biomarker [8]
CYLD OT37FKH0 Definitive Autosomal dominant [9]
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⏷ Show the Full List of 6 DOT(s)

References

1 DPP4 inhibitor reinforces cell junction proteins in mouse model of short bowel syndrome.Pediatr Surg Int. 2020 Jan;36(1):49-55. doi: 10.1007/s00383-019-04571-5. Epub 2019 Oct 1.
2 Association of sick building syndrome with neuropathy target esterase (NTE) activity in Japanese.Environ Toxicol. 2014 Oct;29(10):1217-26. doi: 10.1002/tox.21839. Epub 2013 Feb 18.
3 Distribution of the H+/peptide transporter PepT1 in human intestine: up-regulated expression in the colonic mucosa of patients with short-bowel syndrome.Am J Clin Nutr. 2002 May;75(5):922-30. doi: 10.1093/ajcn/75.5.922.
4 p63 and smooth muscle actin expression in low-grade spiradenocarcinomas in a case of CYLD cutaneous syndrome.J Cutan Pathol. 2018 Oct;45(10):760-763. doi: 10.1111/cup.13311. Epub 2018 Jul 19.
5 A pilot study of the use of epidermal growth factor in pediatric short bowel syndrome.J Pediatr Surg. 2005 May;40(5):763-8. doi: 10.1016/j.jpedsurg.2005.01.038.
6 Novel GLP-1/GLP-2 co-agonists display marked effects on gut volume and improves glycemic control in mice.Physiol Behav. 2018 Aug 1;192:72-81. doi: 10.1016/j.physbeh.2018.03.004. Epub 2018 Mar 11.
7 Ghrelin stimulates intestinal adaptation following massive small bowel resection in parenterally fed rats.Peptides. 2018 Aug;106:59-67. doi: 10.1016/j.peptides.2018.06.009. Epub 2018 Jun 30.
8 Bernard-Soulier syndrome.Haematologica. 2011 Mar;96(3):355-9. doi: 10.3324/haematol.2010.039883.
9 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.