Autosomal dominant Charcot-Marie-Tooth disease type 2K

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K, INCLUDED
CMT2K
Number of Symptoms 20
OrphanetNr: 99944
OMIM Id: 607831
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant Charcot-Marie-Tooth disease type 2
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
2
(HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
3
(HPO:0001284) Areflexia 198 / 7739
4
(HPO:0002936) Distal sensory impairment 96 / 7739
5
(HPO:0003450) Axonal regeneration 4 / 7739
6
(HPO:0001171) Split hand 72 / 7739
7
(HPO:0001762) Talipes equinovarus 309 / 7739
8
(HPO:0002751) Kyphoscoliosis 131 / 7739
9
(HPO:0002460) Distal muscle weakness 122 / 7739
10
(HPO:0003693) Distal amyotrophy 118 / 7739
11
(HPO:0003701) Proximal muscle weakness 105 / 7739
12
(OMIM) Axonal regeneration on nerve biopsy 2 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Proximal muscle involvement may occur 3 / 7739
15
(HPO:0003593) Infantile onset 249 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(OMIM) Pseudo-'onion bulb' formation 1 / 7739
18
(OMIM) Loss of myelinated fibers on nerve biopsy 6 / 7739
19
(OMIM) Normal or mildly reduced motor nerve conduction velocities (NCV) (greater than 38 m/s) 1 / 7739
20
(OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM - Autosomal Recessive CMT2K

Birouk et al. (2003) reported a consanguineous Moroccan family in which 4 members were affected with a severe form of autosomal recessive axonal CMT. Onset was in early childhood (younger than 3 ...

Molecular genetics OMIM - Homozygous or Compound Heterozygous GDAP1 Mutations

In all 4 affected members of a consanguineous Moroccan family with severe axonal CMT, Birouk et al. (2003) identified a homozygous mutation in the GDAP1 gene (606598.0002). The authors ...

Population genetics OMIM Kabzinska et al. (2010) identified a mutation in the GDAP1 gene (L239F; 606598.0011), either in the homozygous state or in the compound heterozygous state with another pathogenic GDAP1 mutation (see, e.g., R282C, 606598.0006), in affected individuals from 4 ...