GAN2
MCID: GNT040
MIFTS: 25

Giant Axonal Neuropathy 2, Autosomal Dominant (GAN2)

Categories: Cardiovascular diseases, Genetic diseases, Muscle 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 72 29 6 70
Gan2 57 72
Autosomal Dominant Hereditary Motor and Sensory Neuropathy Type 2 with Giant Axons 58
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons 58
Hmsn2 with Neurofilament Accumulations and Infrequent Giant Axons 72
Hmsn2 with Giant Axons 58
Cmt2 with Giant Axons 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:

31
giant axonal neuropathy 2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 610100
OMIM Phenotypic Series 57 PS256850
MeSH 44 D015417
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA401964
UMLS 70 C4013360

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) (Updated 05-Apr-2021)

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 and giant axonal neuropathy. An important gene associated with Giant Axonal Neuropathy 2, Autosomal Dominant is DCAF8 (DDB1 And CUL4 Associated Factor 8). Related phenotypes are areflexia and pes cavus

UniProtKB/Swiss-Prot : 72 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 11.8
2 giant axonal neuropathy 11.1
3 sensory peripheral neuropathy 10.2
4 axonal hereditary motor and sensory neuropathy 10.2

Symptoms & Phenotypes for Giant Axonal Neuropathy 2, Autosomal Dominant

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 decreased motor nerve conduction velocity 31 HP:0003431
5 steppage gait 31 HP:0003376
6 cardiomyopathy 31 HP:0001638
7 hammertoe 31 HP:0001765
8 distal muscle weakness 31 HP:0002460
9 distal amyotrophy 31 HP:0003693
10 peripheral axonal neuropathy 31 HP:0003477
11 emg: chronic denervation signs 31 HP:0003444
12 impaired distal tactile sensation 31 HP:0006937
13 impaired distal vibration sensation 31 HP:0006886
14 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
Cardiovascular Heart:
cardiomyopathy (reported in 1 family)

Skeletal Feet:
pes cavus
hammer toes

Clinical features from OMIM®:

610100 (Updated 05-Apr-2021)

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

Genetic tests related to Giant Axonal Neuropathy 2, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Giant Axonal Neuropathy 2, Autosomal Dominant 29 DCAF8

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 PMID Year
1
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. 6 57
24500646 2014
2
Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder? 6 57
3859241 1985
3
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. 57
14557576 2003
4
Dissociation of GaN2+ and AlN2+ in APT: Electronic structure and stability in strong DC field. 61
30292191 2018
5
Dissociation of GaN2+ and AlN2+ in APT: Analysis of experimental measurements. 61
30292204 2018
6
Theoretical study of gallium nitride molecules, GaN2 and GaN4. 61
18714957 2008
7
Theoretical investigation on the electronic and geometric structure of GaN2+ and GaN4+. 61
17711273 2007

Variations for Giant Axonal Neuropathy 2, Autosomal Dominant

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCAF8 NM_015726.4(DCAF8):c.949C>T (p.Arg317Cys) SNV Pathogenic 133348 rs587777425 GRCh37: 1:160206935-160206935
GRCh38: 1:160237145-160237145
2 DCAF8 NM_015726.4(DCAF8):c.451C>T (p.Arg151Cys) SNV Uncertain significance 930290 GRCh37: 1:160209759-160209759
GRCh38: 1:160239969-160239969

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

72
# Symbol AA change Variation ID SNP ID
1 DCAF8 p.Arg317Cys VAR_071265 rs587777425

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 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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