Details of Disease

General Information of Disease (ID: DIS3F79N)

Disease Name X-linked distal spinal muscular atrophy type 3
Synonyms
spinal muscular atrophy, distal, X-linked recessive; Dsmax; spinal muscular atrophy, distal, X-linked 3; X-linked dSMA3; ATP7A-related distal motor neuropathy; X-linked distal hereditary motor neuropathy type 3; ATP7A spinal muscular atrophy; SMAX3; X-linked dHMN3; DSMAX; X-linked dHMN type 3; spinal muscular atrophy, distal, X-linked type 3; spinal muscular atrophy, distal, X-linked 3, X-linked recessive; X-linked dSMA type 3; spinal muscular atrophy caused by mutation in ATP7A
Definition
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
Disease Hierarchy
DISGS2ID: Distal hereditary motor neuropathy
DISTLKOB: Spinal muscular atrophy
DIS3PN9X: X-linked disease
DIS3F79N: X-linked distal spinal muscular atrophy type 3
Disease Identifiers
MONDO ID
MONDO_0010338
MESH ID
C564506
UMLS CUI
C1845359
OMIM ID
300489
MedGen ID
335168
Orphanet ID
139557
SNOMED CT ID
766764008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ATP7A DT0LT17 Definitive X-linked [1]
ATP7A DT0LT17 Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP7A OTMR3GXP Definitive X-linked [1]
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References

1 X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. Neurology. 2009 Jan 20;72(3):246-52. doi: 10.1212/01.wnl.0000339483.86094.a5.
2 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.