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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
6 OMIM references -
5 associated genes
9 signs/symptoms
Semantic dementia
Split hand-split foot malformation

C9ORF72 BTRC
CHMP2B FBXW4
GRN SHFM1
MAPT TP63
PSEN1 WNT10B
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
VCP
VCP
(0.73)
(0.72)
(0.63)
BTRC
TP63
SHFM1



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Split hand-split foot malformation
BTRC FBXW4 SHFM1 TP63 WNT10B



Semantic dementia
Split hand-split foot malformation

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

Synonym(s):
- Ectrodactyly
- Lobster-claw deformity
- SHFM
- Split hand foot malformation

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
6 OMIM references -
No MeSH references

Split hand-split foot malformation

Very frequent
- Autosomal dominant inheritance
- Oligodactyly / ectrodactyly of fingers

Frequent
- Syndactyly of fingers / interdigital palm

Occasional
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance


Semantic dementia

(no data available)