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1 OMIM reference -
2 associated genes
46 signs/symptoms
PROTEIN INTERACTIONS: 1
13 OMIM references -
14 associated genes
No signs/symptoms info
Costello syndrome
Autosomal dominant nonsyndromic intellectual deficit

HRAS CACNG2
KRAS CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
(0.59)
GRIN1



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4



Costello syndrome
Autosomal dominant nonsyndromic intellectual deficit

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 genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Costello syndrome

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Delayed bone age
- Depressed nasal bridge
- Enamel anomaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- 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
- Broad cheeks / cherub-like / cherubin face
- 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
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)