HMSN6C
MCID: NRP068
MIFTS: 15

Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy (HMSN6C)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

MalaCards integrated aliases for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy:

Name: Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy 57 6
Charcot-Marie-Tooth Disease, Type 6c; Cmt6c 57
Charcot-Marie-Tooth Disease, Type 6c 57
Hmsn Vic 57
Hmsn6c 57
Cmt6c 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
two unrelated families have been reported (last curated july 2019)
onset of peripheral neuropathy in the first decade
onset of optic atrophy in adulthood
treatment with pyridoxal 5-prime phosphate supplementation may result in amelioration of symptoms


Classifications:



External Ids:

OMIM 57 618511

Summaries for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

OMIM : 57 Hereditary motor and sensory neuropathy type VIC with optic atrophy (HMSN6C) is an autosomal recessive axonal sensorimotor peripheral neuropathy characterized by progressive distal muscle weakness and atrophy primarily affecting the lower limbs. Onset of neuropathy is in the first decade, manifest by difficulty walking and running and followed by similar involvement of the upper limbs and hands. The disorder is associated with distal sensory impairment, particularly of position and vibration sense, as well as areflexia; individuals usually have pes cavus, hammertoes, and atrophy of the intrinsic hand muscles. In addition, progressive optic atrophy and visual impairment occur during adulthood. Treatment with pyridoxal 5-prime phosphate supplementation (vitamin B6) may result in amelioration of symptoms and slow progression of the disease (summary by Chelban et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (601152). (618511)

MalaCards based summary : Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy, is also known as charcot-marie-tooth disease, type 6c; cmt6c. An important gene associated with Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy is PDXK (Pyridoxal Kinase). Affiliated tissues include testes.

Related Diseases for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

Diseases in the Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy family:

Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy

Symptoms & Phenotypes for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
axonal sensorimotor peripheral neuropathy
impaired walking and running due to peripheral neuropathy
impaired distal sensation of all modalities
neurogenic pain
more
Head And Neck Eyes:
visual impairment, progressive
optic atrophy, adult-onset
impaired color vision

Skeletal Hands:
atrophy of the intrinsic hand muscles
clawed hands

Skeletal Feet:
pes cavus
hammertoes

Muscle Soft Tissue:
distal muscle atrophy due to peripheral neuropathy
distal muscle weakness due to peripheral neuropathy
upper limb involvement occurs later
neurogenic pattern seen on emg
lower limbs affected earlier than upper limbs

Clinical features from OMIM:

618511

Drugs & Therapeutics for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy

Genetic Tests for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

Anatomical Context for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

MalaCards organs/tissues related to Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy:

41
Testes

Publications for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

Articles related to Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy:

# Title Authors PMID Year
1
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. 8 71
31187503 2019

Variations for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

ClinVar genetic disease variations for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDXK NM_003681.5(PDXK): c.682G> A (p.Ala228Thr) single nucleotide variant Pathogenic 21:45173523-45173523 21:43753642-43753642
2 PDXK NM_003681.5(PDXK): c.659G> A (p.Arg220Gln) single nucleotide variant Pathogenic 21:45173500-45173500 21:43753619-43753619

Expression for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

Search GEO for disease gene expression data for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy.

Pathways for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

GO Terms for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

Sources for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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