Details of Disease | DrugMAP

General Information of Disease (ID: DISEYWC0)

Disease Name	Congenital myopathy, Paradas type
Definition	Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.
Disease Hierarchy	DIS59VEJ: Qualitative or quantitative defects of dysferlin DISKY7OY: Congenital muscular dystrophy DISEYWC0: Congenital myopathy, Paradas type
Disease Identifiers	MONDO ID MONDO_0016049 UMLS CUI C4511057 MedGen ID 1388555 Orphanet ID 199329 SNOMED CT ID 725420009

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
DYSF	TTA7MXQ	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
DYSF	OTNSKJU0	Supportive	Autosomal recessive	[1]
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References

1	A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11.