Details of Disease | DrugMAP

General Information of Disease (ID: DISKHTKC)

Disease Name	Fetal akinesia-cerebral and retinal hemorrhage syndrome
Synonyms	myopathy, centronuclear, lethal, autosomal recessive; LCCS5; lethal congenital contracture syndrome 5; lethal congenital contracture syndrome type 5
Definition	Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.
Disease Hierarchy	DIS489GT: Lethal congenital contracture syndrome DISLSK9G: Congenital myopathy DISKHTKC: Fetal akinesia-cerebral and retinal hemorrhage syndrome
Disease Identifiers	MONDO ID MONDO_0014149 UMLS CUI C4706410 OMIM ID 615368 MedGen ID 1631944 Orphanet ID 363409 SNOMED CT ID 763346009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DNM2	TTVRA5G	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNM2	OTUYU2U3	Supportive	Autosomal recessive	[1]
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References

1	Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Eur J Hum Genet. 2013 Jun;21(6):637-42. doi: 10.1038/ejhg.2012.226. Epub 2012 Oct 24.