ODCs

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Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Ehlers-Danlos syndrome with periventricular heterotopia

1 OMIM reference -
1 associated gene
17 signs/symptoms

Autosomal dominant Larsen syndrome

Ehlers-Danlos syndrome with periventricular heterotopia

FLNB

(UniProt - OMIM)

FLNA

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.95)	FLNA

Citations in the biomedical literature:

Autosomal dominant Larsen syndrome		Ehlers-Danlos syndrome with periventricular heterotopia
	Synonym(s): (no synonyms)		Synonym(s): - EDS with periventricular heterotopia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: x-linked dominant

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


COMMON SIGNS	- Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis

Autosomal dominant Larsen syndrome		Ehlers-Danlos syndrome with periventricular heterotopia
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad / bifid thumb - Depressed nasal bridge - Depressed premaxillary region / midface - Flat face - Frontal bossing / prominent forehead - 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 - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - 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 - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Herniae - X-linked dominant inheritance Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Patent ductus arteriosus - Seizures / epilepsy / absences / spasms / status epilepticus - Structural anomalies of the nervous system - Thin skin Occasional - Aortic root dilatation / dilation / aneurysm - Patella dislocation - Shoulder dislocation