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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
8 OMIM references -
9 associated genes
57 signs/symptoms
Semantic dementia
Noonan syndrome

C9ORF72 BRAF
CHMP2B KAT6B
GRN KRAS
MAPT NF1
PSEN1 NRAS
VCP PTPN11
RAF1
RIT1
SOS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
VCP
(0.68)
(0.63)
NF1
RAF1



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Noonan syndrome
BRAF KAT6B KRAS NF1 NRAS PTPN11
RAF1 RIT1 SOS1



Semantic dementia
Noonan 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 cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare infertility
- Rare oncologic disease
- Rare renal disease
- Rare skin 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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
8 OMIM references -
1 MeSH reference: D009634

Noonan syndrome

Very frequent
- Abnormally placed nipples
- Absent / hypotonic / flaccid abdominal wall muscles
- Anomalies of mouth, lip and philtrum
- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Cystic hygroma
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Excess nuchal skin without pterygium colli
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- High forehead
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Late puberty / hypogonadism / hypogenitalism
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Muscle weakness / flaccidity
- Pectus carinatum
- Pectus excavatum
- Proptosis / exophthalmos
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary valve atresia / stenosis / narrowing
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thick lips
- Triangular face
- Webbed neck / pterygium colli
- Wide rib cage / thorax

Frequent
- Abnormal dermatoglyphics
- Anomalies of the lymphatic system
- Cardiac rhythm disorder / arrhythmia
- Clotting / hemostasis disorders
- Coarse / thick hair
- Delayed bone age
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Low hair line (back)
- Platelets function anomaly
- Scoliosis
- Strabismus / squint
- Structural and functional anomalies of the spleen
- Structural anomalies of the genital system
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Clinodactyly of fifth finger
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lymphedema
- Nystagmus
- Pigmented naevi / naevus pigmentosus / lentigo
- Radioulnar synostosis
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals


Semantic dementia

(no data available)