Details of Disease

General Information of Disease (ID: DIS3R7KX)

Disease Name Papillon-Lefevre disease
Synonyms
PAPILLON-Lefevre syndrome; Keratoris palmoplantaris with periodontopathia; keratosis palmoplantaris with periodontopathia; keratosis palmoplantar - periodontopathy; hyperkeratosis palmoplantaris with periodontosis; palmar-plantar hyperkeratosis and concomitant periodontal destruction; Papillon-LEFvre syndrome; PALS; Pls; palmoplantar keratoderma with periodontosis; PLS; keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefvre syndrome; Papillon Lefevre syndrome; Papillon Lefvre Syndrome
Definition Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
Disease Hierarchy
DIS0FJ2N: CTSC-related disorder
DISCPWH9: Autosomal recessive disease
DISJQHVN: Periodontal disease
DIS6O9JS: Diffuse palmoplantar keratoderma
DISOSIQY: Disorder of lysosomal-related organelles
DISXLK81: Functional neutrophil defect
DIS3R7KX: Papillon-Lefevre disease
Disease Identifiers
MONDO ID
MONDO_0009490
MESH ID
D010214
UMLS CUI
C0030360
OMIM ID
245000
MedGen ID
45306
Orphanet ID
678
SNOMED CT ID
40158001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTSC TTQ9J6R Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC35A1 DTVZIRG Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ABO DESIA7R Strong Genetic Variation [3]
------------------------------------------------------------------------------------
This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FIG4 OT501PY9 moderate Biomarker [4]
ALS2 OT8BAM04 Strong Genetic Variation [4]
CCL3L1 OTQXCYB1 Strong Biomarker [5]
DPYS OTLTUIVL Strong Biomarker [6]
ERLIN2 OT551BVG Strong Biomarker [7]
FASTK OTTHFZMP Strong Biomarker [8]
GAL3ST1 OTSFFZRD Strong Biomarker [2]
IGFALS OTTWCZYM Strong Biomarker [9]
SPAST OTIF3AJI Strong Genetic Variation [10]
CTSC OT79WJZZ Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------
⏷ Show the Full List of 10 DOT(s)

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Identical patterns of cortico-efferent tract involvement in primary lateral sclerosis and amyotrophic lateral sclerosis: A tract of interest-based MRI study.Neuroimage Clin. 2018 Mar 15;18:762-769. doi: 10.1016/j.nicl.2018.03.018. eCollection 2018.
3 Prospective evaluation of immune haemolysis in liver transplantation.Vox Sang. 2020 Jan;115(1):72-80. doi: 10.1111/vox.12865. Epub 2019 Nov 13.
4 Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.Eur Neurol. 2019;81(1-2):87-93. doi: 10.1159/000500672. Epub 2019 May 22.
5 Proteolysis of macrophage inflammatory protein-1alpha isoforms LD78beta and LD78alpha by neutrophil-derived serine proteases.J Biol Chem. 2005 Apr 29;280(17):17415-21. doi: 10.1074/jbc.M500340200. Epub 2005 Feb 22.
6 Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT.BMB Rep. 2010 Aug;43(8):547-53. doi: 10.5483/bmbrep.2010.43.8.547.
7 Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol. 2012 Oct;72(4):510-6. doi: 10.1002/ana.23641.
8 Preoperative Carbohydrate Loading in Gynecological Patients Undergoing Combined Spinal and Epidural Anesthesia.J Invest Surg. 2020 Aug;33(7):587-595. doi: 10.1080/08941939.2018.1546352. Epub 2019 Jan 15.
9 Brainstem pathology in amyotrophic lateral sclerosis and primary lateral sclerosis: A longitudinal neuroimaging study.Neuroimage Clin. 2019;24:102054. doi: 10.1016/j.nicl.2019.102054. Epub 2019 Oct 24.
10 Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.Arch Neurol. 2009 Apr;66(4):509-14. doi: 10.1001/archneurol.2009.19.