ODCs

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Noonan syndrome-like disorder with loose anagen hair

1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 11

Costello syndrome

1 OMIM reference -
2 associated genes
46 signs/symptoms

Noonan syndrome-like disorder with loose anagen hair

Costello syndrome

SHOC2	(UniProt - OMIM)		HRAS	(UniProt - OMIM)
			KRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHOC2 SHOC2	(0.96) (0.84)	HRAS KRAS

Citations in the biomedical literature:

Noonan syndrome-like disorder with loose anagen hair		Costello syndrome
	Synonym(s): (no synonyms)		Synonym(s): - FCS syndrome - Faciocutaneoskeletal syndrome - Intellectual deficit - nasal papillomata

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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


COMMON SIGNS	- Cardiomyopathy / hypertrophic / dilated - Delayed bone age - Epicanthic folds - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Short stature / dwarfism / nanism - Thick lips - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails - Undescended / ectopic testes / cryptorchidia / unfixed testes

Noonan syndrome-like disorder with loose anagen hair		Costello syndrome
	Very frequent - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Low hair line (back) - Short / small nose - Webbed neck / pterygium colli Frequent - Absent / decreased / thin eyebrows - Anteverted nares / nostrils - Broad nose / nasal bridge - Hydrocephaly - Long / large ear - Pectus excavatum - Philtrum deeply grooved - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches Occasional - Elbow anomalies(excluding luxation) - Hearing loss / hypoacusia / deafness - Hypertelorism - Intervertebral disk anomaly - Multiple caries - Short hand / brachydactyly - Thin / retracted lips		Very frequent - Acanthosis nigricans - Anomalies of skin, subcutaneous tissue and mucosae - Antenatal exposure : alcohol - Depressed nasal bridge - Enamel anomaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pulmonary valve atresia / stenosis / narrowing - Short neck - 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 - Excess nuchal skin without pterygium colli - 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 - 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