ODCs

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1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

17p11.2 microduplication syndrome

Transthyretin-related familial amyloid cardiomyopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RAI1	(0.63)	TTR

Citations in the biomedical literature:

17p11.2 microduplication syndrome		Transthyretin-related familial amyloid cardiomyopathy
	Synonym(s): - Potocki-Lupski syndrome - Trisomy 17p11.2		Synonym(s): - ATTR cardiomyopathy - TTR-related amyloid cardiomyopathy - TTR-related cardiac amyloidosis - Transthyretin amyloid cardiopathy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536578		External references: 1 OMIM reference - No MeSH references

17p11.2 microduplication syndrome
	Very frequent - Anomaly of the pharynx / pharyngeal anomaly - Apnea / sleep apnea - Autism / autistic disoders - Elocution disorders / dysarthria / dysphonia - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperactivity / attention deficit - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Total / partial trisomy / duplication Frequent - Broad forehead - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - EEG anomalies - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypermetropia - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Triangular face Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dental malocclusion - Hearing loss / hypoacusia / deafness - Hypertelorism - Low set ears / posteriorly rotated ears - Macrostomia / big mouth - Microcephaly - Short stature / dwarfism / nanism - Tooth shape anomaly
Transthyretin-related familial amyloid cardiomyopathy
(no data available)