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1 OMIM reference -
2 associated genes
46 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 18
4 OMIM references -
4 associated genes
78 signs/symptoms
Costello syndrome
Cardiofaciocutaneous syndrome

HRAS BRAF
KRAS KRAS
MAP2K1
MAP2K2


COMMON
GENES
KRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
HRAS
(0.78)
(0.73)
BRAF
MAP2K1



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Cardiofaciocutaneous syndrome
BRAF MAP2K1 MAP2K2



Costello syndrome
Cardiofaciocutaneous syndrome

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

Synonym(s):
- CFC syndrome

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 developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D056685
External references:
4 OMIM references -
1 MeSH reference: C535579


COMMON
SIGNS
- Broad cheeks / cherub-like / cherubin face
- Cardiomyopathy / hypertrophic / dilated
- Coarse face
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Depressed nasal bridge
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Loose skin / skin relaxation / excess skin / creases
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Short neck
- Short stature / dwarfism / nanism
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Costello syndrome
Cardiofaciocutaneous syndrome

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Delayed bone age
- Enamel anomaly
- Pulmonary valve atresia / stenosis / narrowing
- 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
- Abnormal dermatoglyphics
- Excess nuchal skin without pterygium colli
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperextensible joints / articular hyperlaxity
- Keratoconus / keratoglobus
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Polyhydramnios
- Tendon rupture / tendinitis / bursitis / tenosynovitis
- Thick lips
- Thin / hypoplastic toenails
- Ulnar deviation of fingers
- Warts / papillomas

Occasional
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hair and scalp anomalies
- Large face
- Thick / wide ear lobe


Very frequent
- Absent / decreased / thin eyebrows
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Anteverted nares / nostrils
- Atrial septal defect / interauricular communication
- Autosomal dominant inheritance
- Brittle hair / distrix / trichorrhexis
- Cardiac valvulopathy
- Congenital cardiac anomaly / malformation / cardiopathy
- Dry / squaly skin / exfoliation
- Euryblepharon / wide palpebral fissures
- Fine hair
- Flat supraorbital ridge
- Hairy patch
- Helix thickened / sculpted
- Hypotonia
- Long face
- Palmoplantar hyperkeratosis / keratoderma
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Rippled skin
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / decreased lashes
- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Deep palmar creases
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysplastic / thick / grooved fingernails
- EEG anomalies
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- High forehead
- Hyperelastic skin / cutaneous hyperlaxity
- Hypertelorism
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Long philtrum
- Long / large ear
- Low hair line (back)
- Myopia
- Narrow forehead
- Nystagmus
- Pectus excavatum
- Prematurity
- Ptosis
- Scoliosis
- Short / small nose
- slow growth of the hair
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Webbed neck / pterygium colli

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cubitus valgus
- Elocution disorders / dysarthria / dysphonia
- Functional anomalies of the digestive system
- Genu valgum
- Hydrocephaly
- Late puberty / hypogonadism / hypogenitalism
- Lymphedema
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Structural anomalies of the digestive tract