ODCs

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Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Bilateral striopallidodentate calcinosis

4 OMIM references -
3 associated genes
12 signs/symptoms

Autosomal dominant Larsen syndrome

Bilateral striopallidodentate calcinosis

FLNB	(UniProt - OMIM)	PDGFB	(UniProt - OMIM)
		PDGFRB	(UniProt - OMIM)
		SLC20A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	SLC20A2

Citations in the biomedical literature:

Autosomal dominant Larsen syndrome		Bilateral striopallidodentate calcinosis
	Synonym(s): (no synonyms)		Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Autosomal dominant Larsen syndrome		Bilateral striopallidodentate calcinosis
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - Broad / bifid thumb - Depressed nasal bridge - Depressed premaxillary region / midface - Flat face - Frontal bossing / prominent forehead - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Joint dislocation / subluxation - Long hand / arachnodactyly - Short hand / brachydactyly Frequent - Wrist / carpal anomalies Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Epiphyseal anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Short stature / dwarfism / nanism - Structural anomalies of the cardio-circulatory system - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Dilated cerebral ventricles without hydrocephaly - Hepatomegaly / liver enlargement (excluding storage disease) - Intracranial / cerebral calcifications - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia Frequent - Corneal clouding / opacity / vascularisation - Structural anomalies of the liver and the biliary tract