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: 2

Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

Noonan syndrome-like disorder with loose anagen hair

Linear nevus sebaceus 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		Linear nevus sebaceus syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Nevus sebaceus of Jadassohn - Nevus sebaceus syndrome - Organoid nevus syndrome - Schimmelpenning syndrome - Solomon syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: childhood Average age of death: any age Type of inheritance: sporadic

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


COMMON SIGNS	- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability

Noonan syndrome-like disorder with loose anagen hair		Linear nevus sebaceus syndrome
	Very frequent - Delayed bone age - Low hair line (back) - Low set ears / posteriorly rotated ears - Short stature / dwarfism / nanism - Short / small nose - Webbed neck / pterygium colli Frequent - Absent / decreased / thin eyebrows - Anteverted nares / nostrils - Broad nose / nasal bridge - Cardiomyopathy / hypertrophic / dilated - Epicanthic folds - 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 - High vaulted / narrow palate - Hypertelorism - Intervertebral disk anomaly - Multiple caries - Short hand / brachydactyly - Thick lips - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails - Thin / retracted lips - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Adenoma sebaceum - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Areflexia / hyporeflexia - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Autosomal dominant inheritance - Cavernous / tuberous hemangioma - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - Dilated cerebral ventricles without hydrocephaly - EEG anomalies - Frontal bossing / prominent forehead - Genu recurvatum - Hypereflexia - Hypotonia - Narrow forehead - Pigmented naevi / naevus pigmentosus / lentigo - Prominent occiput / occipital bossing - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Vertebral segmentation anomaly / hemivertebrae Frequent - Anomalies of eyes and vision - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Irregular / in bands / reticular skin hyperpigmentation - Plagiocephaly - Porencephaly Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dandy-Walker anomaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Intracranial / cerebral calcifications