Cytoscape Web
Click node...


3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Bladder exstrophy

HNRNPA1 TP63
HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.72)
TP63



Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
Bladder exstrophy
TP63



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Bladder exstrophy

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

Synonym(s):
- Classic exstrophy of the bladder

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
- Rare urogenital disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: multigenic/multifactorial

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D001746

Bladder exstrophy

Very frequent
- Anus / rectum anomalies
- Bladder / cloacal exstrophy
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Umbilical hernia
- Vesicorenal / vesicoureteral reflux

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Recurrent urinary infections
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis

Occasional
- Encopresis / fecal incontinence
- Intestinal / gut / bowel malrotation
- Omphalocele / exomphalos
- Short bowel


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

(no data available)