ODCs

Click node...

Bilateral striopallidodentate calcinosis

4 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

Bilateral striopallidodentate calcinosis

Linear nevus sebaceus syndrome

PDGFB	(UniProt - OMIM)	HRAS	(UniProt - OMIM)
PDGFRB	(UniProt - OMIM)	KRAS	(UniProt - OMIM)
SLC20A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFB	(0.52)	HRAS

Citations in the biomedical literature:

Bilateral striopallidodentate calcinosis		Linear nevus sebaceus syndrome
	Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification		Synonym(s): - Nevus sebaceus of Jadassohn - Nevus sebaceus syndrome - Organoid nevus syndrome - Schimmelpenning syndrome - Solomon syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood 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: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Dilated cerebral ventricles without hydrocephaly - Intracranial / cerebral calcifications - Seizures / epilepsy / absences / spasms / status epilepticus

Bilateral striopallidodentate calcinosis		Linear nevus sebaceus syndrome
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Thrombocytopenia / thrombopenia Frequent - Corneal clouding / opacity / vascularisation - Structural anomalies of the liver and the biliary tract		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 - EEG anomalies - Frontal bossing / prominent forehead - Genu recurvatum - Hypereflexia - Hypotonia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Narrow forehead - Pigmented naevi / naevus pigmentosus / lentigo - Prominent occiput / occipital bossing - 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