HMN5C
MCID: NRN050
MIFTS: 23

Neuronopathy, Distal Hereditary Motor, Type Vc (HMN5C)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuronopathy, Distal Hereditary Motor, Type Vc

MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type Vc:

Name: Neuronopathy, Distal Hereditary Motor, Type Vc 57 6
Spinal Muscular Atrophy, Distal, Type 5c; Dsma5c 57
Neuropathy, Distal Hereditary Motor, Type Vc 57
Spinal Muscular Atrophy, Distal, Type 5c 57
Dhmn5c 57
Dsma5c 57
Hmn5c 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
slowly progressive
onset usually in the first decades
upper limb involvement is prominent
lower limb involvement may occur at the same time or later
highly variable phenotype even within families

Inheritance:
autosomal dominant


HPO:

31
neuronopathy, distal hereditary motor, type vc:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset adult onset


Classifications:



External Ids:

OMIM® 57 619112

Summaries for Neuronopathy, Distal Hereditary Motor, Type Vc

OMIM® : 57 Distal hereditary motor neuronopathy type VC (dHMN5C or HMN5C) is an autosomal dominant neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills. Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder. In addition, some patients with BSCL2 mutations show features of Charcot-Marie-Tooth type 2 (CMT2) with distal sensory impairment. HMN5C, Silver syndrome (SPG17), and features of axonal sensorimotor peripheral neuropathy (CMT2) thus represent a phenotypic spectrum associated with heterozygous mutations in the BSCL2 gene. Individuals with the same mutation may manifest features consistent with any of those disorders; variability is even observed within the same family (summary by Van de Warrenburg et al., 2006; Luigetti et al., 2010; Choi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960). (619112) (Updated 05-Mar-2021)

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Vc, also known as spinal muscular atrophy, distal, type 5c; dsma5c, is related to spastic paraplegia 17 and encephalopathy, progressive, with or without lipodystrophy. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Vc is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Related phenotypes are babinski sign and chaddock reflex

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Vc

Graphical network of the top 20 diseases related to Neuronopathy, Distal Hereditary Motor, Type Vc:



Diseases related to Neuronopathy, Distal Hereditary Motor, Type Vc

Symptoms & Phenotypes for Neuronopathy, Distal Hereditary Motor, Type Vc

Human phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Vc:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 babinski sign 31 very rare (1%) HP:0003487
2 chaddock reflex 31 very rare (1%) HP:0010875
3 pes cavus 31 HP:0001761
4 distal lower limb muscle weakness 31 HP:0009053
5 frequent falls 31 HP:0002359
6 difficulty walking 31 HP:0002355
7 thenar muscle atrophy 31 HP:0003393
8 distal lower limb amyotrophy 31 HP:0008944

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Feet:
pes cavus
foot deformities

Neurologic Peripheral Nervous System:
distal sensory impairment (in some patients)
axonal peripheral neuropathy (in some patients)
motor neuronopathy
mild decrease in myelin density and regeneration seen on sural nerve biopsy (in some patients)

Neurologic Central Nervous System:
frequent falls
spasticity (in some patients)
hyperreflexia (in some patients)
gait impairment
pyramidal signs (in some patients)

Muscle Soft Tissue:
atrophy of the intrinsic hand muscles
neurogenic process seen on emg
neurogenic distal muscle weakness
neurogenic distal muscle atrophy

Clinical features from OMIM®:

619112 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neuronopathy, Distal Hereditary Motor, Type Vc

Search Clinical Trials , NIH Clinical Center for Neuronopathy, Distal Hereditary Motor, Type Vc

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Vc

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Vc

Publications for Neuronopathy, Distal Hereditary Motor, Type Vc

Articles related to Neuronopathy, Distal Hereditary Motor, Type Vc:

(show all 12)
# Title Authors PMID Year
1
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. 6 57
23142943 2013
2
Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. 57 6
20806400 2010
3
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? 6 57
19396477 2009
4
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 57 6
16427281 2006
5
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 6 57
15732094 2005
6
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 57 6
14981520 2004
7
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 6
23553728 2013
8
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 57
18790819 2009
9
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 57
17387721 2007
10
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. 57
10908191 2000
11
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 6
1674639 1991
12
Familial spastic paraplegia with amyotrophy of the hands. 6
5964029 1966

Variations for Neuronopathy, Distal Hereditary Motor, Type Vc

ClinVar genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Vc:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BSCL2 NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser) SNV Pathogenic 4543 rs137852972 11:62469971-62469971 11:62702499-62702499
2 BSCL2 NM_032667.6(BSCL2):c.269C>G (p.Ser90Trp) SNV Pathogenic 476810 rs137852973 11:62469965-62469965 11:62702493-62702493
3 BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) SNV Pathogenic 4544 rs137852973 11:62469965-62469965 11:62702493-62702493

Expression for Neuronopathy, Distal Hereditary Motor, Type Vc

Search GEO for disease gene expression data for Neuronopathy, Distal Hereditary Motor, Type Vc.

Pathways for Neuronopathy, Distal Hereditary Motor, Type Vc

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Vc

Sources for Neuronopathy, Distal Hereditary Motor, Type Vc

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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