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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Costello syndrome

1 OMIM reference -
2 associated genes
46 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Costello syndrome

CBL	(UniProt - OMIM)		HRAS	(UniProt - OMIM)
			KRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL	(0.63)	HRAS

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Costello syndrome
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - FCS syndrome - Faciocutaneoskeletal syndrome - Intellectual deficit - nasal papillomata

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		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 -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056685

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
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)