MCID: MCR298
MIFTS: 7

Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

MalaCards integrated aliases for Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome:

Name: Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome 58 6

Characteristics:

Orphanet epidemiological data:

58
microcephaly-complex motor and sensory axonal neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA423894

Summaries for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

MalaCards based summary : Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome An important gene associated with Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome is VRK1 (VRK Serine/Threonine Kinase 1).

Related Diseases for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

Symptoms & Phenotypes for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

Drugs & Therapeutics for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

Search Clinical Trials , NIH Clinical Center for Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome

Genetic Tests for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

Anatomical Context for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

Publications for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

Articles related to Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome:

# Title Authors PMID Year
1
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy. 6
32365420 2020

Variations for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

ClinVar genetic disease variations for Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VRK1 NM_003384.3(VRK1):c.637T>C (p.Tyr213His) SNV Pathogenic 812546 rs1595676477 GRCh37: 14:97321621-97321621
GRCh38: 14:96855284-96855284

Expression for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

Search GEO for disease gene expression data for Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome.

Pathways for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

GO Terms for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

Sources for Microcephaly-Complex Motor and Sensory Axonal Neuropathy...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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