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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
3 OMIM references -
3 associated genes
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

YWHAE
(UniProt - OMIM)
 HNRNPA1
(UniProt - OMIM)
HNRNPA2B1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
YWHAE
(0.63)
(0.63)
HNRNPA2B1
VCP


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Distal 17p13.3 microdeletion syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.