HMN8
MCID: NRN036
MIFTS: 25

Neuronopathy, Distal Hereditary Motor, Type Viii (HMN8)

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

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

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

Name: Neuronopathy, Distal Hereditary Motor, Type Viii 58
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 58 13
Distal Spinal Muscular Atrophy, Congenital Nonprogressive 30 6
Neuropathy, Distal Hereditary Motor, Type Viii 58 76
Dhmn8 58 76
Hmn8 58 76
Spinal Muscular Atrophy, Congenital Benign, with Contractures 58
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy 60
Atrophy, Muscular, Spinal, Distal, Congenital Nonprogressive 41
Congenital Benign Spinal Muscular Atrophy with Contractures 60
Spinal Muscular Atrophy Congenital Benign with Contractures 76
Distal Spinal Muscular Atrophy, Congenital Non-Progressive 76
Autosomal Dominant Benign Distal Spinal Muscular Atrophy 60
Neuropathy, Distal Hereditary Motor, Type Viii; Dhmn8 58
Congenital Nonprogressive Spinal Muscular Atrophy 60
Neuronopathy, Distal Hereditary Motor, 8 76

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
incomplete penetrance
nonprogressive disorder
onset prenatally or at birth


HPO:

33
neuronopathy, distal hereditary motor, type viii:
Onset and clinical course variable expressivity incomplete penetrance nonprogressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Neuronopathy, Distal Hereditary Motor, Type Viii

UniProtKB/Swiss-Prot : 76 Neuronopathy, distal hereditary motor, 8: A clinically variable, neuromuscular disorder characterized by congenital lower motor neuron disorder restricted to the lower part of the body. Clinical manifestations include non-progressive muscular atrophy, thigh muscle atrophy, weak thigh adductors, weak knee and foot extensors, minimal jaw muscle and neck flexor weakness, flexion contractures of knees and pes equinovarus. Tendon reflexes are normal.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Viii, is also known as spinal muscular atrophy, distal, congenital nonprogressive. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Viii is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Related phenotypes are muscular hypotonia and joint stiffness

Description from OMIM: 600175

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

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

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
4 distal amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003693
5 nonprogressive muscular atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008964
6 scoliosis 33 HP:0002650
7 kyphosis 33 HP:0002808
8 hyperlordosis 33 HP:0003307
9 pes planus 33 HP:0001763
10 elbow flexion contracture 33 HP:0002987
11 proximal lower limb amyotrophy 33 HP:0008956
12 arthrogryposis multiplex congenita 33 HP:0002804
13 talipes equinovarus 33 HP:0001762
14 areflexia 33 HP:0001284
15 hyporeflexia 33 HP:0001265
16 decreased fetal movement 33 HP:0001558
17 hip contracture 33 HP:0003273
18 distal muscle weakness 33 HP:0002460
19 knee flexion contracture 33 HP:0006380
20 spinal muscular atrophy 33 HP:0007269
21 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
kyphosis
lordosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Skeletal Limbs:
knee contractures
elbow contractures

Skeletal Pelvis:
hip contractures

Skeletal Feet:
pes planus
club feet
pes equinovarus

Prenatal Manifestations Movement:
decreased fetal movement

Skeletal:
arthrogryposis

Muscle Soft Tissue:
muscle atrophy, distal
muscle weakness, distal, restricted to the lower limbs
muscle weakness, proximal, pelvic girdle (in severe cases)
trunk muscle weakness
muscle biopsy shows groups of small angulated fibers consistent with denervation
more

Clinical features from OMIM:

600175

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Viii

Genetic tests related to Neuronopathy, Distal Hereditary Motor, Type Viii:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, Congenital Nonprogressive 30 TRPV4

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Viii

Publications for Neuronopathy, Distal Hereditary Motor, Type Viii

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

(show all 15)
# Title Authors Year
1
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. ( 24789864 )
2014
2
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. ( 22675077 )
2012
3
Muscle MRI in TRPV4-related congenital distal SMA. ( 22291064 )
2012
4
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. ( 22065612 )
2011
5
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. ( 21288981 )
2011
6
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. ( 21336783 )
2011
7
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. ( 20037586 )
2010
8
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )
2010
9
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. ( 21115951 )
2010
10
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. ( 20037588 )
2010
11
Channelopathies converge on TRPV4. ( 20104247 )
2010
12
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. ( 15668982 )
2005
13
Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. ( 10463355 )
1999
14
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. ( 8179305 )
1994
15
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. ( 4056805 )
1985

Variations for Neuronopathy, Distal Hereditary Motor, Type Viii

UniProtKB/Swiss-Prot genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Viii:

76
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg269His VAR_063529 rs267607144
2 TRPV4 p.Pro97Arg VAR_067989 rs876661124
3 TRPV4 p.Arg232Cys VAR_067990 rs387906904

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

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
2 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
3 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
4 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
5 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
6 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
7 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh37 Chromosome 12, 110252547: 110252547
8 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh38 Chromosome 12, 109814742: 109814742
9 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
10 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh38 Chromosome 12, 109803009: 109803009
11 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
12 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh38 Chromosome 12, 109808298: 109808298
13 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
14 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
15 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh37 Chromosome 12, 110238487: 110238487
16 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh38 Chromosome 12, 109800682: 109800682
17 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh37 Chromosome 12, 110238481: 110238481
18 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh38 Chromosome 12, 109800676: 109800676
19 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh37 Chromosome 12, 110234519: 110234519
20 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh38 Chromosome 12, 109796714: 109796714
21 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh37 Chromosome 12, 110226379: 110226379
22 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh38 Chromosome 12, 109788574: 109788574
23 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh37 Chromosome 12, 110221524: 110221524
24 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh38 Chromosome 12, 109783719: 109783719
25 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
26 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
27 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
28 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
29 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
30 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
31 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
32 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
33 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
34 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
35 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
36 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
37 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
38 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
39 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
40 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
41 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
42 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
43 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
44 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
45 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
46 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
47 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
48 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146
49 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh38 Chromosome 12, 109800661: 109800661
50 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh37 Chromosome 12, 110238466: 110238466

Expression for Neuronopathy, Distal Hereditary Motor, Type Viii

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type Viii

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Viii

Sources for Neuronopathy, Distal Hereditary Motor, Type Viii

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