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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Bullous pemphigoid
2 associated genes
12 signs/symptoms
Distal 17p13.3 microdeletion syndrome
Bullous pemphigoid

YWHAE
(UniProt - OMIM)
 HLA-DQB1
(UniProt - OMIM)
HLA-DRB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.63)
HLA-DRB1


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Bullous pemphigoid
HLA-DQB1 HLA-DRB1



Distal 17p13.3 microdeletion syndrome
Bullous pemphigoid

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
1 MeSH reference: D010391
Bullous pemphigoid

Very frequent
- Autoimmunity / autoimmune reaction / autoantibodies
- Diabetes mellitus
- Eczema
- Enanthema / aphtosa / aphta / leukoplakia
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Macules
- Negative Nikolski's sign
- Urticaria
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Psoriasis



Distal 17p13.3 microdeletion syndrome

(no data available)