MCID: GNT045
MIFTS: 24

Giant Axonal Neuropathy 2

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal 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 that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has material basis in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.

MalaCards based summary : Giant Axonal Neuropathy 2 is related to giant axonal neuropathy and giant axonal neuropathy 2, autosomal dominant. An important gene associated with Giant Axonal Neuropathy 2 is DCAF8 (DDB1 And CUL4 Associated Factor 8), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. Related phenotypes are Decreased viability and Decreased viability

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:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 32.0 NEFL GAN DCAF8 BAG3
2 giant axonal neuropathy 2, autosomal dominant 11.9
3 myopathy, myofibrillar, 6 10.3 HSPB8 DCAF8 BAG3
4 myopathy, myofibrillar, 2 10.2 HSPB8 BAG3
5 charcot-marie-tooth disease, axonal, type 2cc 10.2 NEFH GAN DCAF8
6 myopathy, myofibrillar, 3 10.2 SYNM INA BAG3
7 charcot-marie-tooth disease, axonal, type 2i 10.2 NEFL HSPB8
8 charcot-marie-tooth disease, axonal, type 2l 10.1 NEFL HSPB8 DCAF8
9 charcot-marie-tooth disease, axonal, type 2f 10.1 NEFL HSPB8 DCAF8
10 hereditary motor and sensory neuropathy, type iic 10.1 NEFL NEFH HSPB8
11 cranial nerve disease 10.0 OPTN NEFL DCAF8
12 amyotrophic lateral sclerosis 18 10.0 UBQLN2 FUS
13 associative agnosia 10.0 TARDBP FUS
14 amyotrophic lateral sclerosis type 22 10.0 TARDBP FUS
15 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.0 NEFL HSPB8 GAN DCAF8
16 ideomotor apraxia 10.0 TARDBP FUS
17 nominal aphasia 10.0 TARDBP FUS
18 pica disease 10.0 TARDBP FUS
19 dysgraphia 10.0 TARDBP FUS
20 writing disorder 10.0 TARDBP FUS
21 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 HSPB8 BAG3
22 amyotrophic lateral sclerosis 16, juvenile 10.0 UBQLN2 FUS
23 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 10.0 TARDBP FUS
24 myofibrillar myopathy 9.9 TARDBP SYNM HSPB8 DCAF8 BAG3
25 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 9.9 TARDBP FUS
26 amyotrophic lateral sclerosis type 14 9.9 UBQLN2 OPTN FUS
27 axonal neuropathy 9.9 NEFL NEFH GAN DCAF8 BAG3
28 medulloepithelioma 9.9 NES INA
29 tooth disease 9.9 NEFL NEFH HSPB8 GAN BAG3
30 ophthalmomyiasis 9.9 TARDBP SOD1
31 optic nerve disease 9.9 OPTN NEFL DCAF8
32 amyotrophic lateral sclerosis 11 9.8 TARDBP OPTN FUS
33 charcot-marie-tooth disease, demyelinating, type 1f 9.8 NEFM NEFL NEFH INA DCAF8
34 amyotrophic lateral sclerosis 19 9.8 UBQLN2 TARDBP SOD1
35 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.7 UBQLN2 TARDBP HSPA4 FUS
36 multisystem proteinopathy 9.7 UBQLN2 TARDBP OPTN FUS
37 alzheimer disease 9 9.7 SOD1 CDK5
38 toxic encephalopathy 9.7 SOD1 HSPA4 CDK5
39 aphasia 9.6 TARDBP OPTN NEFL FUS
40 speech and communication disorders 9.6 TARDBP NEFL FUS
41 progressive bulbar palsy 9.6 SOD1 NEFH FUS
42 neuropathy 9.6 OPTN NEFL NEFH HSPB8 GAN DCAF8
43 locked-in syndrome 9.6 TARDBP SOD1 FUS
44 cerebellar disease 9.5 SOD1 HSPA4 FUS
45 amyotrophic lateral sclerosis 9 9.5 UBQLN2 SOD1 OPTN FUS
46 dermatopathia pigmentosa reticularis 9.5 UBQLN2 TARDBP SOD1 FUS
47 spinocerebellar ataxia 2 9.4 UBQLN2 TARDBP SOD1 FUS
48 alzheimer disease 7 9.4 TARDBP SOD1 OPTN FUS
49 hemochromatosis, type 1 9.4 SOD1 OPTN NEFH FUS
50 spinal muscular atrophy 9.3 TARDBP SOD1 NEFL HSPB8 FUS

Graphical network of the top 20 diseases related to Giant Axonal Neuropathy 2:



Diseases related to Giant Axonal Neuropathy 2

Symptoms & Phenotypes for Giant Axonal Neuropathy 2

GenomeRNAi Phenotypes related to Giant Axonal Neuropathy 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.77 HSPB8
2 Decreased viability GR00154-A 9.77 CDK5
3 Decreased viability GR00221-A-1 9.77 HSPB8
4 Decreased viability GR00221-A-2 9.77 SOD1
5 Decreased viability GR00221-A-3 9.77 SOD1
6 Decreased viability GR00221-A-4 9.77 CDK5 FUS HSPB8 SOD1
7 Decreased viability GR00249-S 9.77 BAG3 CDK5 CUL3 GAN OPTN SOD1
8 Decreased viability GR00301-A 9.77 HSPB8
9 Decreased viability GR00386-A-1 9.77 BAG3 GAN HSPA4 NEFL NEFM OPTN
10 Decreased viability GR00402-S-2 9.77 INA NEFH UBQLN2

MGI Mouse Phenotypes related to Giant Axonal Neuropathy 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 BAG3 CDK5 CUL3 GAN HSPA4 HSPB8
2 muscle MP:0005369 9.56 BAG3 CUL3 GAN HSPB8 MYO5A SOD1
3 nervous system MP:0003631 9.36 CDK5 CUL3 GAN HSPA4 HSPB8 INA

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

Articles related to Giant Axonal Neuropathy 2:

# Title Authors PMID Year
1
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. 61
12398836 2002

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 UBQLN2 TARDBP SOD1 OPTN NEFM NEFL
2 12.03 TARDBP SOD1 OPTN NEFM NEFL NEFH
3 11.44 NES NEFM NEFL
4 11.39 SOD1 NEFM NEFL NEFH
5
Show member pathways
11.2 SYNM NES NEFM NEFL NEFH INA
6 11.04 SOD1 NEFM NEFL NEFH

GO Terms for Giant Axonal Neuropathy 2

Cellular components related to Giant Axonal Neuropathy 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.27 UBQLN2 SOD1 OPTN NEFL MYO5A HSPB8
2 cytoskeleton GO:0005856 10 SYNM NEFM NEFL NEFH GAN CUL3
3 cytoplasm GO:0005737 9.93 UBQLN2 TARDBP SYNM SOD1 PTPA OPTN
4 neuron projection GO:0043005 9.83 SOD1 NEFL MYO5A CDK5 BAG3
5 intermediate filament GO:0005882 9.63 SYNM NES NEFM NEFL NEFH INA
6 intermediate filament cytoskeleton GO:0045111 9.58 SYNM NES NEFM
7 Schaffer collateral - CA1 synapse GO:0098685 9.56 NEFL NEFH INA CDK5
8 chaperone complex GO:0101031 9.48 HSPB8 BAG3
9 neurofibrillary tangle GO:0097418 9.37 NEFM NEFH
10 postsynaptic intermediate filament cytoskeleton GO:0099160 9.32 NEFL NEFH
11 neurofilament GO:0005883 8.92 NEFM NEFL NEFH INA

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to unfolded protein GO:0034620 9.5 OPTN HSPB8 BAG3
2 muscle cell cellular homeostasis GO:0046716 9.48 SOD1 BAG3
3 axon development GO:0061564 9.46 NEFL NEFH
4 retrograde axonal transport GO:0008090 9.43 SOD1 NEFL
5 intermediate filament cytoskeleton organization GO:0045104 9.43 SYNM NEFH INA
6 intermediate filament bundle assembly GO:0045110 9.4 NEFL NEFH
7 positive regulation of aggrephagy GO:1905337 9.37 HSPB8 BAG3
8 postsynaptic intermediate filament cytoskeleton organization GO:0099185 9.33 NEFL NEFH INA
9 neurofilament bundle assembly GO:0033693 9.13 NEFM NEFL NEFH
10 neurofilament cytoskeleton organization GO:0060052 8.92 SOD1 NEFL NEFH INA

Molecular functions related to Giant Axonal Neuropathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 UBQLN2 TARDBP SYNM SOD1 PTPA OPTN
2 identical protein binding GO:0042802 9.91 UBQLN2 TARDBP SOD1 OPTN NEFL HSPB8
3 protein binding, bridging GO:0030674 9.5 OPTN NEFL NEFH
4 structural constituent of cytoskeleton GO:0005200 9.35 SYNM NEFM NEFL NEFH INA
5 intermediate filament binding GO:0019215 9.26 SYNM NES
6 structural constituent of postsynaptic intermediate filament cytoskeleton GO:0099184 8.8 NEFL NEFH INA

Sources for Giant Axonal Neuropathy 2

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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