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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Semantic dementia
Congenital short bowel syndrome

C9ORF72 CLMP
CHMP2B FLNA
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSEN1
(0.89)
FLNA



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Congenital short bowel syndrome
CLMP FLNA



Semantic dementia
Congenital short bowel syndrome

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references

Congenital short bowel syndrome

Very frequent
- Short bowel

Frequent
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intestinal / gut / bowel malrotation
- Lipoatrophy
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death

Occasional
- Hypospadias / epispadias / bent penis


Semantic dementia

(no data available)