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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
31 signs/symptoms
Semantic dementia
Cataract - intellectual deficit - hypogonadism

C9ORF72 RAB3GAP1
CHMP2B RAB3GAP2
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
VCP
(0.63)
(0.63)
RAB3GAP1
RAB3GAP2



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Cataract - intellectual deficit - hypogonadism
RAB3GAP1 RAB3GAP2



Semantic dementia
Cataract - intellectual deficit - hypogonadism

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

Synonym(s):
- Martsolf syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Cataract - intellectual deficit - hypogonadism

Very frequent
- Abnormal dermatoglyphics
- Autosomal recessive inheritance
- Cataract / lens opacification
- Everted lower lip
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fissured / scrotal tongue
- Flat cheek bones / malar hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Low hair line (back)
- Microcephaly
- Mid-facial hypoplasia / short / small midface
- Premature ageing
- Short philtrum
- Short stature / dwarfism / nanism

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal toenails
- Anomalies of hands
- Brachycephaly / flat occiput
- Depressed nasal bridge
- High vaulted / narrow palate
- Hypotelorism
- Lordosis
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Terminal / third phalangeal bone of fingers broadened / deviated
- Ulnar deviation of fingers
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Antihelix anomaly
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Scoliosis


Semantic dementia

(no data available)