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Costello syndrome
1 OMIM reference -
2 associated genes
76 connected diseases
46 signs/symptoms
Disease Type of connection
Linear nevus sebaceus syndrome
Noonan syndrome
Pilocytic astrocytoma
Hereditary nonpolyposis colon cancer
Cardiofaciocutaneous syndrome
Juvenile myelomonocytic leukemia
Familial pancreatic carcinoma
Phakomatosis pigmentokeratotica
LEOPARD syndrome
Noonan syndrome-like disorder with loose anagen hair
CLOVE syndrome
Cowden syndrome
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Split hand-split foot malformation
Follicular lymphoma
Intravascular large B-cell lymphoma
Capillary malformation - arteriovenous malformation
Hereditary gingival fibromatosis
Parkes Weber syndrome
Autosomal agammaglobulinemia
SHORT syndrome
Catecholaminergic polymorphic ventricular tachycardia
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Hereditary spherocytosis
Joubert syndrome with orofaciodigital defect
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Chudley-McCullough syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Watson syndrome
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Rabson-Mendenhall syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Adrenocortical carcinoma
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant secondary polycythemia
B-cell chronic lymphocytic leukemia
Distal 22q11.2 microdeletion syndrome
Essential thrombocythemia
Giant cell glioblastoma
Hypotrichosis simplex
Li-Fraumeni syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Autosomal dominant nonsyndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Renal tubular dysgenesis of genetic origin
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Pediatric systemic lupus erythematosus
Autosomal dominant spastic paraplegia type 13
Papillary or follicular thyroid carcinoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
- FCS syndrome
- Faciocutaneoskeletal syndrome
- Intellectual deficit - nasal papillomata

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease

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

Gene symbol UniProt reference OMIM reference
HRAS P01112190020
KRAS P01116190070
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

- 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

- 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