Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Lesional skin biopsies from SAM syndrome patients (n = 7) revealed decreased Dsg1 and Cx43 plasma membrane localization compared with control and nonlesional skin.
|
31465738 |
2020 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple Allergies, Metabolic wasting) and a SAM-like phenotype has been reported in 4 subjects with different heterozygous DSP variants.
|
31037311 |
2019 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 (DSG1) and desmoplakin (DSP) genes.
|
31106887 |
2019 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Further, we identify a novel mutation in the DSG1 TMD (G562R) that causes severe dermatitis, multiple allergies, and metabolic wasting syndrome.
|
30943110 |
2019 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1.
|
29604126 |
2018 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Their distribution becomes uneven in severe dermatitis, multiple allergies and metabolic wasting syndrome due to desmoglein 1 deficiency and the loss of intercellular adhesion or acantholysis.
|
29349851 |
2018 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
|
27534273 |
2017 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a new family of SAM syndrome of Asian decent and expand the spectrum of mutations in the DSG1 gene.
|
27154412 |
2016 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We studied a new case of SAM syndrome known to have no mutations in DSG1 to detail the clinical, histopathologic, immunofluorescent, and ultrastructural phenotype and to identify the underlying molecular mechanisms in this rare genodermatosis.
|
26073755 |
2015 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Monoallelic desmoglein 1 mutations have been known for many years to cause striate palmoplantar keratoderma, but only recently, biallelic loss-of-function mutations were associated with a new disorder, designated as SAM syndrome (comprising severe dermatitis, multiple allergies and metabolic wasting) in two consanguineous families.
|
25041099 |
2015 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Mutations causing SAM syndrome resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion.
|
23974871 |
2013 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations causing SAM syndrome resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion.
|
23974871 |
2013 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations causing SAM syndrome resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion.
|
23974871 |
2013 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|