GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr:
OMIM Id: 610100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001284) Areflexia 198 / 7739
2
(HPO:0003383) Onion bulb formation 30 / 7739
3
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
4
(HPO:0006937) Impaired distal tactile sensation 3 / 7739
5
(HPO:0001265) Hyporeflexia 208 / 7739
6
(HPO:0003376) Steppage gait 41 / 7739
7
(HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
8
(HPO:0006886) Impaired distal vibration sensation 8 / 7739
9
(HPO:0001765) Hammertoe 63 / 7739
10
(HPO:0001763) Pes planus 176 / 7739
11
(HPO:0001822) Hallux valgus 70 / 7739
12
(HPO:0001761) Pes cavus 225 / 7739
13
(HPO:0001838) Rocker bottom foot 85 / 7739
14
(HPO:0001638) Cardiomyopathy 192 / 7739
15
(HPO:0001637) Abnormality of the myocardium 76 / 7739
16
(HPO:0003693) Distal amyotrophy 118 / 7739
17
(HPO:0003444) EMG: chronic denervation signs 5 / 7739
18
(HPO:0002460) Distal muscle weakness 122 / 7739
19
(OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
20
(OMIM) EMG shows chronic denervation 3 / 7739
21
(OMIM) Sural nerve biopsy shows occasional onion bulb formations 1 / 7739
22
(OMIM) Distal sensory loss of tactile and vibratory senses 1 / 7739
23
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
(OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
25
(OMIM) Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vogel et al. (1985) reported a German kinship with clinical features of hereditary motor sensory neuropathy type 2 (HMSN2; see, e.g., CMT2A1; 118210) characterized by axonal swellings with neurofilament accumulations on peripheral nerve biopsy. There were at least ...