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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): Gene(s) directly associated with this condition or phenotype.	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.

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Oral mucosal blisters

MedGen UID:: 208888
•Concept ID:: C0853945
•: Sign or Symptom

Blisters arising in the mouth.

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Abnormality of head or neck
- Erosion of oral mucosa
Abnormality of the integument
- Oral mucosal blisters

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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Links from Gene

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

Definition

Clinical features

Recent clinical studies

Diagnosis

Supplemental Content

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Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

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