Details of Disease | DrugMAP

General Information of Disease (ID: DISNZ80C)

Disease Name	Microcephaly-complex motor and sensory axonal neuropathy syndrome
Definition	Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISD715V: Hereditary neurological disease DISNZ80C: Microcephaly-complex motor and sensory axonal neuropathy syndrome
Disease Identifiers	MONDO ID MONDO_0018507 UMLS CUI C4706585 MedGen ID 1637079 Orphanet ID 423894 SNOMED CT ID 763798008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VRK1	OTU2M1BC	Supportive	Autosomal recessive	[1]
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References

1	Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec;70(12):1491-8. doi: 10.1001/jamaneurol.2013.4598.