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Generalized peeling skin syndrome type C

MedGen UID:
799101
•Concept ID:
CN202307
•
Disease or Syndrome
Synonyms: generalised deciduous skin type C; Generalized deciduous skin type C; generalized deciduous skin type C; generalized peeling skin syndrome type C; peeling skin syndrome type C; Peeling skin syndrome type C
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016993
Orphanet: ORPHA263558

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized peeling skin syndrome type C
Follow this link to review classifications for Generalized peeling skin syndrome type C in Orphanet.

Recent clinical studies

Etiology

The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim.
Fiete D, Mi Y, Beranek M, Baenziger NL, Baenziger JU
Glycobiology 2017 May 1;27(5):450-456. doi: 10.1093/glycob/cwx018. PMID: 28204496Free PMC Article

Diagnosis

The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim.
Fiete D, Mi Y, Beranek M, Baenziger NL, Baenziger JU
Glycobiology 2017 May 1;27(5):450-456. doi: 10.1093/glycob/cwx018. PMID: 28204496Free PMC Article

Supplemental Content

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    Clinical resources

    Reviews

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      Related information in PubMed Central Links
    • PubMed
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