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17p13.3 microduplication syndrome
1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
Bullous pemphigoid
2 associated genes
12 signs/symptoms
17p13.3 microduplication syndrome
Bullous pemphigoid

PAFAH1B1
(UniProt - OMIM)
 HLA-DQB1
(UniProt - OMIM)
YWHAE
(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:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Bullous pemphigoid
HLA-DQB1 HLA-DRB1



17p13.3 microduplication syndrome
Bullous pemphigoid

Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D010391
17p13.3 microduplication syndrome
Bullous pemphigoid

Very frequent
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microstomia / little mouth
- Short / small nose

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Short neck

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration


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