ABOLM
MCID: BLS009
MIFTS: 11

Blistering, Acantholytic, of Oral and Laryngeal Mucosa (ABOLM)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

MalaCards integrated aliases for Blistering, Acantholytic, of Oral and Laryngeal Mucosa:

Name: Blistering, Acantholytic, of Oral and Laryngeal Mucosa 57 6
Abolm 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
based on report of 1 patient (last curated march 2021)


Classifications:



External Ids:

OMIM® 57 619226

Summaries for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

OMIM® : 57 ABOLM is characterized by suprabasal acantholytic blisters limited to the oral and laryngeal mucosa (Kim et al., 2019). (619226) (Updated 05-Apr-2021)

MalaCards based summary : Blistering, Acantholytic, of Oral and Laryngeal Mucosa, is also known as abolm. An important gene associated with Blistering, Acantholytic, of Oral and Laryngeal Mucosa is DSG3 (Desmoglein 3). Affiliated tissues include tongue.

Related Diseases for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

Symptoms & Phenotypes for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair:
histology:
suprabasal acantholytic blisters in epidermis of oral mucosa

Respiratory Larynx:
erosions of laryngeal mucosa

Head And Neck Mouth:
blisters and erosion of oral mucosa
deformed tongue due to recurrent erosions

Skin Nails Hair Skin Histology:
suprabasal acantholytic blisters in epidermis of oral mucosa

Clinical features from OMIM®:

619226 (Updated 05-Apr-2021)

Drugs & Therapeutics for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

Search Clinical Trials , NIH Clinical Center for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

Genetic Tests for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

Anatomical Context for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

MalaCards organs/tissues related to Blistering, Acantholytic, of Oral and Laryngeal Mucosa:

40
Tongue

Publications for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

Articles related to Blistering, Acantholytic, of Oral and Laryngeal Mucosa:

# Title Authors PMID Year
1
A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and Laryngeal Mucosa. 6 57
30528827 2019

Variations for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

ClinVar genetic disease variations for Blistering, Acantholytic, of Oral and Laryngeal Mucosa:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSG3 NM_001944.3(DSG3):c.859C>T (p.Arg287Ter) SNV Pathogenic 1013500 GRCh37: 18:29041235-29041235
GRCh38: 18:31461272-31461272

Expression for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

Search GEO for disease gene expression data for Blistering, Acantholytic, of Oral and Laryngeal Mucosa.

Pathways for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

GO Terms for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

Sources for Blistering, Acantholytic, of Oral and Laryngeal Mucosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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