Charcot-Marie-Tooth disease type 4D

General Information (adopted from Orphanet):

Synonyms, Signs: HMSN4D
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4D
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D
HMSNL
CMT4D
HMSN, Lom type
Hereditary motor and sensory neuropathy, Lom type
Number of Symptoms 24
OrphanetNr: 99950
OMIM Id: 601455
ICD-10: G60.0
UMLs: C1832334
MeSH: C535716
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Charcot-Marie-Tooth disease type 4
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000649) Abnormality of visual evoked potentials 34 / 7739
2
 (HPO:0000365) Hearing impairment 539 / 7739
3
 (HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
4
 (HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
5
 (HPO:0001265) Hyporeflexia 208 / 7739
6
 (HPO:0002936) Distal sensory impairment 96 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
9
 (HPO:0003383) Onion bulb formation 30 / 7739
10
 (HPO:0001288) Gait disturbance 318 / 7739
11
 (HPO:0003447) Axonal loss 11 / 7739
12
 (HPO:0001760) Abnormality of the foot 96 / 7739
13
 (HPO:0001155) Abnormality of the hand 54 / 7739
14
 (HPO:0004696) Talipes cavus equinovarus 13 / 7739
15
 (HPO:0006916) Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material 1 / 7739
16
 (HPO:0003693) Distal amyotrophy 118 / 7739
17
 (HPO:0002460) Distal muscle weakness 122 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (HPO:0003621) Juvenile onset 105 / 7739
20
 (OMIM) 'Onion bulbs' on nerve biopsy 1 / 7739
21
 (OMIM) Severely reduced nerve conduction velocities (NCV) (may become unattainable) 1 / 7739
22
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
23
 (OMIM) Abnormal brainstem auditory evoked potentials, suggesting demyelination 1 / 7739
24
 (OMIM) Segmental demyelination/remyelination on nerve biopsy 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kalaydjieva et al. (1996) described an autosomal recessive peripheral neuropathy with deafness and unusual neuropathologic features, initially identified in 14 affected individuals from the Gypsy community of Lom, a small town on the Danube River in the northwest ...
Molecular genetics OMIM Kalaydjieva et al. (2000) reduced the HMSNL interval to 200 kb and characterized it by means of large-scale genomic sequencing. Sequence analysis of 2 genes located in the critical region identified the founder HMSNL mutation: a premature-termination codon ...