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1 OMIM reference -
2 associated genes
46 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 5
COMMON SIGNS: 13
8 OMIM references -
9 associated genes
57 signs/symptoms
Costello syndrome
Noonan syndrome

HRAS BRAF
KRAS KAT6B
KRAS
NF1
NRAS
PTPN11
RAF1
RIT1
SOS1


COMMON
GENES
KRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
KRAS
HRAS
HRAS
HRAS
(0.99)
(0.99)
(0.97)
(0.78)
(0.72)
RAF1
RAF1
SOS1
BRAF
NF1



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Noonan syndrome
BRAF KAT6B NF1 NRAS PTPN11
RAF1 RIT1 SOS1



Costello syndrome
Noonan syndrome

Synonym(s):
- FCS syndrome
- Faciocutaneoskeletal syndrome
- Intellectual deficit - nasal papillomata

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin 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):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D056685
External references:
8 OMIM references -
1 MeSH reference: D009634


COMMON
SIGNS
- Abnormal dermatoglyphics
- Delayed bone age
- Excess nuchal skin without pterygium colli
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Low set ears / posteriorly rotated ears
- Pulmonary valve atresia / stenosis / narrowing
- Short stature / dwarfism / nanism
- Strabismus / squint
- Thick lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Costello syndrome
Noonan syndrome

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Depressed nasal bridge
- Enamel anomaly
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Short neck
- Thin / hypoplastic / hyperconvex fingernails
- Tight skin / lack of elasticity
- Ventricular septal defect / interventricular communication
- Woolly / frizzy hair

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Broad cheeks / cherub-like / cherubin face
- Cardiomyopathy / hypertrophic / dilated
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Epicanthic folds
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Keratoconus / keratoglobus
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Polyhydramnios
- Tendon rupture / tendinitis / bursitis / tenosynovitis
- Thin / hypoplastic toenails
- Ulnar deviation of fingers
- Warts / papillomas

Occasional
- Coarse face
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hair and scalp anomalies
- Large face
- Thick / wide ear lobe


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
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- High forehead
- Hypertelorism
- Late puberty / hypogonadism / hypogenitalism
- 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
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Triangular face
- Webbed neck / pterygium colli
- Wide rib cage / thorax

Frequent
- Anomalies of the lymphatic system
- Cardiac rhythm disorder / arrhythmia
- Clotting / hemostasis disorders
- Coarse / thick hair
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Low hair line (back)
- Platelets function anomaly
- Scoliosis
- Structural and functional anomalies of the spleen
- Structural anomalies of the genital system

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