ODCs

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Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Autosomal dominant hypohidrotic ectodermal dysplasia

2 OMIM references -
3 associated genes
18 signs/symptoms

Linear nevus sebaceus syndrome

Autosomal dominant hypohidrotic ectodermal dysplasia

HRAS	(UniProt - OMIM)	EDAR	(UniProt - OMIM)
KRAS	(UniProt - OMIM)	EDARADD	(UniProt - OMIM)
		TRAF6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRAS	(0.63)	TRAF6

Citations in the biomedical literature:

Linear nevus sebaceus syndrome		Autosomal dominant hypohidrotic ectodermal dysplasia
	Synonym(s): - Nevus sebaceus of Jadassohn - Nevus sebaceus syndrome - Organoid nevus syndrome - Schimmelpenning syndrome - Solomon syndrome		Synonym(s): - AD-HED - Autosomal dominant anhidrotic ectodermal dysplasia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: unknown Average age onset: childhood Average age of death: any age Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Frontal bossing / prominent forehead - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Linear nevus sebaceus syndrome		Autosomal dominant hypohidrotic ectodermal dysplasia
	Very frequent - Adenoma sebaceum - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Areflexia / hyporeflexia - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Cavernous / tuberous hemangioma - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - Dilated cerebral ventricles without hydrocephaly - EEG anomalies - Genu recurvatum - Hypereflexia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - 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		Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of teeth and dentition - Decreased body hair / axillar / pubic hairlessness - Dry / squaly skin / exfoliation - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Premature lost of decidious teeth - Thin skin - Tooth shape anomaly Frequent - Abnormal fingernails - Alveolysis / paraodontitis Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Eczema - Flattened nose - Malignant hyperthermia - Thick lips