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1 OMIM reference -
2 associated genes
46 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11
1 OMIM reference -
1 associated gene
37 signs/symptoms
Costello syndrome
Leprechaunism

HRAS INSR
KRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
(0.67)
INSR



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Leprechaunism
INSR



Costello syndrome
Leprechaunism

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

Synonym(s):
- Donohue 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 developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: before age 5
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Delayed bone age
- Depressed nasal bridge
- Excess nuchal skin without pterygium colli
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Short stature / dwarfism / nanism
- Thick lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Costello syndrome
Leprechaunism

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Enamel anomaly
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pulmonary valve atresia / stenosis / narrowing
- 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
- Cardiomyopathy / hypertrophic / dilated
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Epicanthic folds
- 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
- Strabismus / squint
- Tendon rupture / tendinitis / bursitis / tenosynovitis
- Thin / hypoplastic toenails
- Ulnar deviation of fingers
- Warts / papillomas

Occasional
- Coarse face
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hair and scalp anomalies
- Large face
- Thick / wide ear lobe


Very frequent
- Anomalies of ear and hearing
- Autosomal recessive inheritance
- Diabetes mellitus
- Facial dysmorphism
- Flared / thick ala nasi
- Hyperinsulinism / hyperinsulinemia
- Hypertelorism
- Hypoglycemia
- Insulin-independent / type 2 diabetes
- Intrauterine growth retardation
- Long / large ear
- Macropenis / megapenis / large penis
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Proptosis / exophthalmos
- Repeat respiratory infections
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hepatitis / icterus / cholestasis
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Lipoatrophy
- Umbilical hernia

Occasional
- Absent / hypotonic / flaccid abdominal wall muscles
- Microcephaly