HMSN6C
MCID: NRP068
MIFTS: 20

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 56 73 6
Hmsn Vic 56 73
Hmsn6c 56 73
Cmt6c 56 73
Neuropathy, Hereditary Motor and Sensory, 6c, with Optic Atrophy 73
Neuropathy, Hereditary Motor and Sensory, Type Vic 73
Hereditary Motor and Sensory Neuropathy Type Vic 73
Charcot-Marie-Tooth Disease, Type 6c; Cmt6c 56
Charcot-Marie-Tooth Disease, Type 6c 56
Charcot-Marie-Tooth Disease 6c 73

Characteristics:

OMIM:

56
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


HPO:

31
neuropathy, hereditary motor and sensory, type vic, with optic atrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



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

OMIM : 56 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 hmsn vic. An important gene associated with Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy is PDXK (Pyridoxal Kinase). Affiliated tissues include testes, and related phenotypes are visual impairment and areflexia

UniProtKB/Swiss-Prot : 73 Neuropathy, hereditary motor and sensory, 6C, with optic atrophy: An autosomal recessive neurologic disorder characterized by childhood onset of axonal, sensorimotor polyneuropathy affecting mainly the lower limbs, and adult-onset optic atrophy. Clinical features include progressive distal muscle weakness and atrophy, significant standing and walking difficulties, areflexia, neurogenic pain and progressive visual impairment.

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...

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

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 areflexia 31 HP:0001284
3 pes cavus 31 HP:0001761
4 hammertoe 31 HP:0001765

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDXK NM_003681.5(PDXK):c.682G>A (p.Ala228Thr)SNV Pathogenic 636264 21:45173523-45173523 21:43753642-43753642
2 PDXK NM_003681.5(PDXK):c.659G>A (p.Arg220Gln)SNV Pathogenic 636265 21:45173500-45173500 21:43753619-43753619
3 PDXK NM_003681.5(PDXK):c.225T>A (p.Asn75Lys)SNV Pathogenic 812519 21:45161630-45161630 21:43741749-43741749

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy:

73
# Symbol AA change Variation ID SNP ID
1 PDXK p.Arg220Gln VAR_083156
2 PDXK p.Ala228Thr VAR_083157

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....