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1 OMIM reference -
2 associated genes
46 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 8
3 OMIM references -
3 associated genes
47 signs/symptoms
Costello syndrome
LEOPARD syndrome

HRAS BRAF
KRAS PTPN11
RAF1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
LEOPARD syndrome
BRAF PTPN11 RAF1



Costello syndrome
LEOPARD syndrome

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

Synonym(s):
- Cardiomyopathic lentiginosis
- Familial multiple lentigines 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 eye disease
- Rare genetic disease
- Rare otorhinolaryngologic 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: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D056685
External references:
3 OMIM references -
2 MeSH references: C537116 / D044542


COMMON
SIGNS
- Cardiomyopathy / hypertrophic / dilated
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pulmonary valve atresia / stenosis / narrowing
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Costello syndrome
LEOPARD syndrome

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Delayed bone age
- Depressed nasal bridge
- Enamel anomaly
- High vaulted / narrow palate
- 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
- Abnormal dermatoglyphics
- Broad cheeks / cherub-like / cherubin face
- 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
- Keratoconus / keratoglobus
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Polyhydramnios
- Strabismus / squint
- Tendon rupture / tendinitis / bursitis / tenosynovitis
- Thick lips
- Thin / hypoplastic toenails
- Ulnar deviation of fingers
- Warts / papillomas

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


Very frequent
- Autosomal dominant inheritance
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac rhythm disorder / arrhythmia
- Excessive freckling
- Hyperelastic skin / cutaneous hyperlaxity
- Hypertelorism
- Intrauterine growth retardation
- Myelodysplastic syndrome
- Pigmented naevi / naevus pigmentosus / lentigo
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Sensorineural deafness / hearing loss
- Structural anomalies of the genital system

Frequent
- Anomalies of ear and hearing
- Atrioventricular canal
- Broad nose / nasal bridge
- Congenital cardiac anomaly / malformation / cardiopathy
- Face / facial anomalies
- Pectus carinatum
- Pectus excavatum
- Ptosis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sterility / hypofertility
- Webbed neck / pterygium colli

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Absent / hypotonic / flaccid abdominal wall muscles
- Angor pectoris / myocardial infarction
- Arterial aneurism (excluding aorta)
- Brachycephaly / flat occiput
- Ectopic / horseshoe / fused kidneys
- Endocardium anomalies / fibroelastosis / endocarditis
- Hypospadias / epispadias / bent penis
- Melanoma
- Myeloproliferative syndrome / chronic leukemia
- Neuroblastoma
- Rippled skin
- Scoliosis
- Spina bifida occulta
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Triangular face