ODCs

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1 OMIM reference -
2 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial amyloid polyneuropathy

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

Monosomy 5p

Familial amyloid polyneuropathy

CTNND2	(UniProt - OMIM)		TTR	(UniProt - OMIM)
SEMA5A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNND2	(0.63)	TTR

Citations in the biomedical literature:

Monosomy 5p		Familial amyloid polyneuropathy
	Synonym(s): - Cri du chat syndrome - Deletion 5p		Synonym(s): - TTR amyloid neuropathy - Transthyretin amyloid neuropathy - Transthyretin amyloid polyneuropathy

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 2 MeSH references: C538482 / D003410		External references: 1 OMIM reference - No MeSH references

Monosomy 5p
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Broad nasal root - Epicanthic folds - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Round face - Total / partial trisomy / duplication Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High vaulted / narrow palate - Hypertelorism - Intrauterine growth retardation - Scoliosis - Short neck - Short stature / dwarfism / nanism - Small hand / acromicria Occasional - Abnormal / absent ossification - Congenital cardiac anomaly / malformation / cardiopathy - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Mutiple fractures / bone fragility - Preauricular / branchial tags / appendages - Syndactyly of fingers / interdigital palm
Familial amyloid polyneuropathy
(no data available)