MCID: GNT045
MIFTS: 11

Giant Axonal Neuropathy 2

Categories: Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Giant Axonal Neuropathy 2

MalaCards integrated aliases for Giant Axonal Neuropathy 2:

Name: Giant Axonal Neuropathy 2 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0090069

Summaries for Giant Axonal Neuropathy 2

Disease Ontology : 12 An axonal neuopathy characterized by autosomal dominant inheritance of distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation that has material basis in heterozygous mutation in the DCAF8 gene on chromosome 1q23

MalaCards based summary : Giant Axonal Neuropathy 2 is related to giant axonal neuropathy 2, autosomal dominant and giant axonal neuropathy. An important gene associated with Giant Axonal Neuropathy 2 is DCAF8 (DDB1 And CUL4 Associated Factor 8).

Related Diseases for Giant Axonal Neuropathy 2

Diseases in the Giant Axonal Neuropathy family:

Giant Axonal Neuropathy 1, Autosomal Recessive Giant Axonal Neuropathy 2, Autosomal Dominant
Giant Axonal Neuropathy 2

Diseases related to Giant Axonal Neuropathy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 2, autosomal dominant 12.5
2 giant axonal neuropathy 9.2 DCAF8 GAN
3 axonal neuropathy 9.0 DCAF8 GAN

Symptoms & Phenotypes for Giant Axonal Neuropathy 2

Drugs & Therapeutics for Giant Axonal Neuropathy 2

Search Clinical Trials , NIH Clinical Center for Giant Axonal Neuropathy 2

Genetic Tests for Giant Axonal Neuropathy 2

Anatomical Context for Giant Axonal Neuropathy 2

Publications for Giant Axonal Neuropathy 2

Variations for Giant Axonal Neuropathy 2

Expression for Giant Axonal Neuropathy 2

Search GEO for disease gene expression data for Giant Axonal Neuropathy 2.

Pathways for Giant Axonal Neuropathy 2

GO Terms for Giant Axonal Neuropathy 2

Biological processes related to Giant Axonal Neuropathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 8.96 DCAF8 GAN
2 post-translational protein modification GO:0043687 8.62 DCAF8 GAN

Sources for Giant Axonal Neuropathy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....