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1 OMIM reference -
2 associated genes
46 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 6
1 OMIM reference -
1 associated gene
36 signs/symptoms
Costello syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome

HRAS PIK3CA
KRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
KRAS
(0.95)
(0.7)
PIK3CA
PIK3CA



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA



Costello syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome

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

Synonym(s):
- MCAP
- MCM
- MCMTC
- Macrocephaly - cutis marmorata telangiectatica congenita
- Macrocephaly-capillary malformation syndrome
- Megalencephaly - cutis marmorata telangiectatica congenita
- Megalencephaly-capillary malformation 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 circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: D056685
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Broad cheeks / cherub-like / cherubin face
- Depressed nasal bridge
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly


Costello syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Delayed bone age
- Enamel anomaly
- High vaulted / narrow palate
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Loose skin / skin relaxation / excess skin / creases
- Pulmonary valve atresia / stenosis / narrowing
- Short neck
- Short stature / dwarfism / nanism
- 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
- Cardiomyopathy / hypertrophic / dilated
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Epicanthic folds
- Excess nuchal skin without pterygium colli
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Keratoconus / keratoglobus
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Polyhydramnios
- Strabismus / squint
- Tendon rupture / tendinitis / bursitis / tenosynovitis
- Thick lips
- Thin / hypoplastic toenails
- Ulnar deviation of fingers
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Warts / papillomas

Occasional
- Coarse face
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hair and scalp anomalies
- Large face
- Low set ears / posteriorly rotated ears
- Thick / wide ear lobe


Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Macrostomia / big mouth
- Polydactyly of toes
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telangiectasiae of the skin
- Upper limb polydactyly / hexadactyly
- Visceral angiomatosis (excluding skin)

Frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cutis marmorata / marbled skin / livedo
- Dilated cerebral ventricles without hydrocephaly
- Frontal bossing / prominent forehead
- High forehead
- Hydrocephaly
- Hypotonia
- Macules
- Structural anomalies of the nervous system

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of mouth, lip and philtrum
- Arnold-Chiari anomaly
- Cardiac rhythm disorder / arrhythmia
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Neoplasms / tumors
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Transient cerebral ischemia / stroke