MCID: NRN036
MIFTS: 22

Neuronopathy, Distal Hereditary Motor, Type Viii

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle 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 57
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 57 13
Distal Spinal Muscular Atrophy, Congenital Nonprogressive 29 6
Neuropathy, Distal Hereditary Motor, Type Viii 57 75
Dhmn8 57 75
Hmn8 57 75
Spinal Muscular Atrophy, Congenital Benign, with Contractures 57
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy 59
Atrophy, Muscular, Spinal, Distal, Congenital Nonprogressive 40
Congenital Benign Spinal Muscular Atrophy with Contractures 59
Spinal Muscular Atrophy Congenital Benign with Contractures 75
Distal Spinal Muscular Atrophy, Congenital Non-Progressive 75
Autosomal Dominant Benign Distal Spinal Muscular Atrophy 59
Neuropathy, Distal Hereditary Motor, Type Viii; Dhmn8 57
Congenital Nonprogressive Spinal Muscular Atrophy 59
Neuronopathy, Distal Hereditary Motor, 8 75

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neuronopathy, distal hereditary motor, type viii:
Onset and clinical course variable expressivity incomplete penetrance nonprogressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Neuronopathy, Distal Hereditary Motor, Type Viii

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis
lordosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Skeletal Limbs:
elbow contractures
knee 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

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

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 distal amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003693
4 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
5 nonprogressive muscular atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008964
6 hyporeflexia 32 HP:0001265
7 areflexia 32 HP:0001284
8 decreased fetal movement 32 HP:0001558
9 talipes equinovarus 32 HP:0001762
10 pes planus 32 HP:0001763
11 distal muscle weakness 32 HP:0002460
12 scoliosis 32 HP:0002650
13 arthrogryposis multiplex congenita 32 HP:0002804
14 kyphosis 32 HP:0002808
15 elbow flexion contracture 32 HP:0002987
16 elevated serum creatine phosphokinase 32 HP:0003236
17 hip contracture 32 HP:0003273
18 hyperlordosis 32 HP:0003307
19 knee flexion contracture 32 HP:0006380
20 spinal muscular atrophy 32 HP:0007269
21 proximal lower limb amyotrophy 32 HP:0008956

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 29 TRPV4

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Viii

Publications for Neuronopathy, Distal Hereditary Motor, Type Viii

Variations for Neuronopathy, Distal Hereditary Motor, Type Viii

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

75
# 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 128)
# 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.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
8 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh38 Chromosome 12, 109803009: 109803009
9 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
10 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh38 Chromosome 12, 109808298: 109808298
11 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
12 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
13 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
14 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
15 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
16 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
17 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
18 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
19 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
20 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
21 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
22 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
23 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
24 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
25 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
26 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
27 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
28 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
29 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
30 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
31 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
32 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
33 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
34 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146
35 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh38 Chromosome 12, 109800661: 109800661
36 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh37 Chromosome 12, 110238466: 110238466
37 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign rs185933892 GRCh38 Chromosome 12, 109792763: 109792763
38 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign rs185933892 GRCh37 Chromosome 12, 110230568: 110230568
39 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh37 Chromosome 12, 110232284: 110232284
40 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh38 Chromosome 12, 109794479: 109794479
41 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 GRCh38 Chromosome 12, 109808472: 109808472
42 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 GRCh37 Chromosome 12, 110246277: 110246277
43 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 GRCh37 Chromosome 12, 110252521: 110252521
44 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 GRCh38 Chromosome 12, 109814716: 109814716
45 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 GRCh37 Chromosome 12, 110231780: 110231780
46 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 GRCh38 Chromosome 12, 109793975: 109793975
47 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 GRCh37 Chromosome 12, 110232235: 110232235
48 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 GRCh38 Chromosome 12, 109794430: 109794430
49 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 GRCh37 Chromosome 12, 110246258: 110246258
50 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 GRCh38 Chromosome 12, 109808453: 109808453

Expression for Neuronopathy, Distal Hereditary Motor, Type Viii

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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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