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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
43 signs/symptoms
Semantic dementia
Otopalatodigital syndrome type 2

C9ORF72 FLNA
CHMP2B
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

Otopalatodigital syndrome type 2
FLNA



Semantic dementia
Otopalatodigital syndrome type 2

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: x-linked dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538089

Otopalatodigital syndrome type 2

Very frequent
- Anodontia / oligodontia / hypodontia
- Bowed diaphysis / diaphyses / long bones
- Broad nose / nasal bridge
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Death in infancy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Large fontanelle / delayed fontanelle closure
- Narrow rib cage / thorax
- Prominent supraorbital ridge
- Short big toe
- Thumb hypoplasia / aplasia / absence
- X-linked recessive inheritance

Frequent
- Anomalies of spine, vertebrae and pelvis
- Camptodactyly of fingers
- Cardiac septal defect
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Elbow dislocation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Frontal sinus agenesis / anomaly
- Glossoptosis
- Hydrocephaly
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Metacarpal anomalies / Archibald's sign
- Micrognathia / retrognathia / micrognathism / retrognathism
- Omphalocele / exomphalos
- Osteosclerosis / osteopetrosis / bone condensation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rib structure anomalies
- Short hand / brachydactyly
- Vertebral segmentation anomaly / hemivertebrae

Occasional
- Carpal bones fusion / synostosis
- Encephalocele / exencephaly
- Myelomeningocele
- Preaxial polydactyly of toes / big toe duplication
- Scoliosis
- Tarsal anomaly / fusion / synostosis


Semantic dementia

(no data available)