Blistering, acantholytic, of oral and laryngeal mucosa

Summary

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

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (1)

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

DSG3
5 tests
Also known as: ABOLM, CDHF6, PVA, DSG3
Summary: desmoglein 3

Imported from Human Phenotype Ontology (HPO)

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Abnormality of head or neck
- Erosion of oral mucosa
  Erosion of oral mucosa
  - MedGen UID: 585576
  - Concept ID: C0399461
  - Finding: Disease or Syndrome
  Abnormality of head or neck
  See: Feature record | Search on this feature
Abnormality of the integument
- Oral mucosal blisters
  Oral mucosal blisters
  - MedGen UID: 208888
  - Concept ID: C0853945
  - Finding: Sign or Symptom
  Abnormality of the integument
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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