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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Semantic dementia
Bladder exstrophy

C9ORF72 TP63
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Bladder exstrophy
TP63



Semantic dementia
Bladder exstrophy

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- Classic exstrophy of the bladder

Classification (Orphanet):
- 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: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
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:
No 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


Semantic dementia

(no data available)