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Blistering, acantholytic, of oral and laryngeal mucosa(ABOLM)

MedGen UID:
1785588
•Concept ID:
C5543184
•
Disease or Syndrome
Synonyms: ABOLM; BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA
 
Gene (location): DSG3 (18q12.1)
 
Monarch Initiative: MONDO:0030986
OMIM®: 619226

Definition

ABOLM is characterized by suprabasal acantholytic blisters limited to the oral and laryngeal mucosa (Kim et al., 2019). [from OMIM]

Clinical features

From HPO
Erosion of oral mucosa
MedGen UID:
585576
•Concept ID:
C0399461
•
Disease or Syndrome
Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.
See: Feature record | Search on this feature
Oral mucosal blisters
MedGen UID:
208888
•Concept ID:
C0853945
•
Sign or Symptom
Blisters arising in the mouth.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa.
Jiang N, Sewell TB, Kowalski TL, Rekab A, Hills S, Fazlollahi L, Lauren CT, Morel K, Mehta L, Liao J
Am J Med Genet A 2024 Feb;194(2):389-393. Epub 2023 Oct 18 doi: 10.1002/ajmg.a.63447. PMID: 37850634

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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