MCID: GNT040
MIFTS: 21

Giant Axonal Neuropathy 2, Autosomal Dominant

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Giant Axonal Neuropathy 2, Autosomal Dominant

MalaCards integrated aliases for Giant Axonal Neuropathy 2, Autosomal Dominant:

Name: Giant Axonal Neuropathy 2, Autosomal Dominant 57 75 6 73
Gan2 57 75
Autosomal Dominant Hereditary Motor and Sensory Neuropathy Type 2 with Giant Axons 59
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons 59
Hmsn2 with Neurofilament Accumulations and Infrequent Giant Axons 75
Hmsn2 with Giant Axons 59
Cmt2 with Giant Axons 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2 with giant axons
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
foot deformities are present in infancy or childhood
neurologic features occur in adulthood
one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014)


HPO:

32
giant axonal neuropathy 2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Giant Axonal Neuropathy 2, Autosomal Dominant

OMIM : 57 Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014). (610100)

MalaCards based summary : Giant Axonal Neuropathy 2, Autosomal Dominant, also known as gan2, is related to autosomal dominant charcot-marie-tooth disease type 2 with giant axons. An important gene associated with Giant Axonal Neuropathy 2, Autosomal Dominant is DCAF8 (DDB1 And CUL4 Associated Factor 8). Related phenotypes are hyporeflexia and areflexia

UniProtKB/Swiss-Prot : 75 Giant axonal neuropathy 2, autosomal dominant: An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation.

Related Diseases for Giant Axonal Neuropathy 2, Autosomal Dominant

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, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 12.6

Symptoms & Phenotypes for Giant Axonal Neuropathy 2, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
hammer toes

Cardiovascular Heart:
cardiomyopathy (reported in 1 family)

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
steppage gait
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more

Clinical features from OMIM:

610100

Human phenotypes related to Giant Axonal Neuropathy 2, Autosomal Dominant:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 areflexia 32 HP:0001284
3 cardiomyopathy 32 HP:0001638
4 pes cavus 32 HP:0001761
5 hammertoe 32 HP:0001765
6 distal muscle weakness 32 HP:0002460
7 steppage gait 32 HP:0003376
8 onion bulb formation 32 HP:0003383
9 decreased motor nerve conduction velocity 32 HP:0003431
10 emg 32 HP:0003444
11 peripheral axonal neuropathy 32 HP:0003477
12 distal amyotrophy 32 HP:0003693
13 impaired distal vibration sensation 32 HP:0006886
14 impaired distal tactile sensation 32 HP:0006937

Drugs & Therapeutics for Giant Axonal Neuropathy 2, Autosomal Dominant

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

Genetic Tests for Giant Axonal Neuropathy 2, Autosomal Dominant

Anatomical Context for Giant Axonal Neuropathy 2, Autosomal Dominant

Publications for Giant Axonal Neuropathy 2, Autosomal Dominant

Articles related to Giant Axonal Neuropathy 2, Autosomal Dominant:

# Title Authors Year
1
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. ( 24500646 )
2014

Variations for Giant Axonal Neuropathy 2, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Giant Axonal Neuropathy 2, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 DCAF8 p.Arg317Cys VAR_071265 rs587777425

ClinVar genetic disease variations for Giant Axonal Neuropathy 2, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DCAF8 NM_015726.3(DCAF8): c.949C> T (p.Arg317Cys) single nucleotide variant Pathogenic rs587777425 GRCh37 Chromosome 1, 160206935: 160206935
2 DCAF8 NM_015726.3(DCAF8): c.949C> T (p.Arg317Cys) single nucleotide variant Pathogenic rs587777425 GRCh38 Chromosome 1, 160237145: 160237145

Expression for Giant Axonal Neuropathy 2, Autosomal Dominant

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

Pathways for Giant Axonal Neuropathy 2, Autosomal Dominant

GO Terms for Giant Axonal Neuropathy 2, Autosomal Dominant

Sources for Giant Axonal Neuropathy 2, Autosomal Dominant

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
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