HMN7A
MCID: NRN025
MIFTS: 27

Neuronopathy, Distal Hereditary Motor, Type Viia (HMN7A)

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

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

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

Name: Neuronopathy, Distal Hereditary Motor, Type Viia 57 29 13 6
Neuropathy, Distal Hereditary Motor, Type Viia 57 73
Harper-Young Myopathy 57 75
Hmn Viia 57 75
Dhmn7a 57 75
Dhmnvp 57 75
Hmn7a 57 75
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis 75
Spinal Muscular Atrophy, Distal, with Vocal Cord Paralysis 57
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis 75
Neuropathy, Motor, Distal, Hereditary, Type Viia 40
Distal Hereditary Motor Neuronopathy Type Viia 75
Distal Hereditary Motor Neuropathy Type Viia 75
Neuronopathy, Distal Hereditary Motor, 7a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slow progression
onset in second decade
wasting of hands often occurs first
clinical overlap with charcot-marie-tooth disease type 2c


HPO:

32
neuronopathy, distal hereditary motor, type viia:
Onset and clinical course slow progression onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuronopathy, Distal Hereditary Motor, Type Viia

UniProtKB/Swiss-Prot : 75 Neuronopathy, distal hereditary motor, 7A: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN7A is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Viia, also known as neuropathy, distal hereditary motor, type viia, is related to distal hereditary motor neuropathy type 7 and neuronopathy, distal hereditary motor, type viib. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Viia is SLC5A7 (Solute Carrier Family 5 Member 7). Affiliated tissues include spinal cord, and related phenotypes are tremor and peripheral neuropathy

OMIM : 57 Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960). (158580)

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Viia

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



Diseases related to Neuronopathy, Distal Hereditary Motor, Type Viia

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus

Respiratory Larynx:
vocal cord paresis

Neurologic Peripheral Nervous System:
difficulty walking
hyporeflexia
vocal cord paresis
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Voice:
hoarse voice due to vocal cord paresis


Clinical features from OMIM:

158580

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 tremor 32 occasional (7.5%) HP:0001337
2 peripheral neuropathy 32 HP:0009830
3 pes cavus 32 HP:0001761
4 vocal cord paralysis 32 HP:0001605
5 difficulty walking 32 HP:0002355
6 hyporeflexia 32 HP:0001265
7 distal muscle weakness 32 HP:0002460
8 vocal cord paresis 32 HP:0001604
9 distal amyotrophy 32 HP:0003693

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Viia

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

# Genetic test Affiliating Genes
1 Neuronopathy, Distal Hereditary Motor, Type Viia 29 SLC5A7

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Viia

MalaCards organs/tissues related to Neuronopathy, Distal Hereditary Motor, Type Viia:

41
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Viia

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

# Title Authors Year
1
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31. ( 10922394 )
2000
2
Distal spinal muscular atrophy with vocal cord paralysis. ( 1552559 )
1992
3
Hereditary distal spinal muscular atrophy with vocal cord paralysis. ( 7420092 )
1980

Variations for Neuronopathy, Distal Hereditary Motor, Type Viia

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

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC5A7 SLC5A7, 1-BP DEL, 1497G deletion Pathogenic
2 SLC5A7 NM_021815.4(SLC5A7): c.313C> T (p.Pro105Ser) single nucleotide variant Uncertain significance rs886039766 GRCh37 Chromosome 2, 108609448: 108609448
3 SLC5A7 NM_021815.4(SLC5A7): c.313C> T (p.Pro105Ser) single nucleotide variant Uncertain significance rs886039766 GRCh38 Chromosome 2, 107992992: 107992992
4 SLC5A7 NM_021815.4(SLC5A7): c.1673C> G (p.Thr558Ser) single nucleotide variant Uncertain significance rs747026995 GRCh37 Chromosome 2, 108627247: 108627247
5 SLC5A7 NM_021815.4(SLC5A7): c.1673C> G (p.Thr558Ser) single nucleotide variant Uncertain significance rs747026995 GRCh38 Chromosome 2, 108010791: 108010791
6 SLC5A7 NM_021815.4(SLC5A7): c.713A> G (p.Tyr238Cys) single nucleotide variant Benign rs142776152 GRCh38 Chromosome 2, 108002012: 108002012
7 SLC5A7 NM_021815.4(SLC5A7): c.713A> G (p.Tyr238Cys) single nucleotide variant Benign rs142776152 GRCh37 Chromosome 2, 108618468: 108618468
8 SLC5A7 NM_021815.4(SLC5A7): c.1119G> A (p.Ser373=) single nucleotide variant Likely benign rs759819899 GRCh38 Chromosome 2, 108010237: 108010237
9 SLC5A7 NM_021815.4(SLC5A7): c.1119G> A (p.Ser373=) single nucleotide variant Likely benign rs759819899 GRCh37 Chromosome 2, 108626693: 108626693
10 covers 14 genes, none of which curated to show dosage sensitivity NC_000002.12: g.(?_107988136)_(108963283_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 107988136: 108963283
11 SLC5A7 NM_021815.4(SLC5A7): c.275C> T (p.Ser92Phe) single nucleotide variant Uncertain significance rs60964124 GRCh38 Chromosome 2, 107992202: 107992202
12 SLC5A7 NM_021815.4(SLC5A7): c.275C> T (p.Ser92Phe) single nucleotide variant Uncertain significance rs60964124 GRCh37 Chromosome 2, 108608658: 108608658
13 SLC5A7 NM_021815.4(SLC5A7): c.878C> T (p.Ala293Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 108006185: 108006185
14 SLC5A7 NM_021815.4(SLC5A7): c.878C> T (p.Ala293Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108622641: 108622641
15 SLC5A7 NM_021815.4(SLC5A7): c.1245C> T (p.Ile415=) single nucleotide variant Benign rs149442049 GRCh38 Chromosome 2, 108010363: 108010363
16 SLC5A7 NM_021815.4(SLC5A7): c.1245C> T (p.Ile415=) single nucleotide variant Benign rs149442049 GRCh37 Chromosome 2, 108626819: 108626819
17 SLC5A7 NM_021815.4(SLC5A7): c.46C> T (p.Leu16Phe) single nucleotide variant Likely benign rs143876748 GRCh38 Chromosome 2, 107988201: 107988201
18 SLC5A7 NM_021815.4(SLC5A7): c.46C> T (p.Leu16Phe) single nucleotide variant Likely benign rs143876748 GRCh37 Chromosome 2, 108604657: 108604657
19 SLC5A7 NM_021815.4(SLC5A7): c.1690C> G (p.Leu564Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 108010808: 108010808
20 SLC5A7 NM_021815.4(SLC5A7): c.1690C> G (p.Leu564Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108627264: 108627264
21 SLC5A7 NM_021815.4(SLC5A7): c.177A> G (p.Thr59=) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 107988332: 107988332
22 SLC5A7 NM_021815.4(SLC5A7): c.177A> G (p.Thr59=) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108604788: 108604788
23 SLC5A7 NM_021815.4(SLC5A7): c.178+6T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 107988339: 107988339
24 SLC5A7 NM_021815.4(SLC5A7): c.178+6T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108604795: 108604795
25 SLC5A7 NM_021815.4(SLC5A7): c.474T> C (p.Asp158=) single nucleotide variant Benign rs201965363 GRCh38 Chromosome 2, 107997863: 107997863
26 SLC5A7 NM_021815.4(SLC5A7): c.474T> C (p.Asp158=) single nucleotide variant Benign rs201965363 GRCh37 Chromosome 2, 108614319: 108614319
27 SLC5A7 NM_021815.4(SLC5A7): c.477G> A (p.Val159=) single nucleotide variant Benign rs143203868 GRCh37 Chromosome 2, 108614322: 108614322
28 SLC5A7 NM_021815.4(SLC5A7): c.477G> A (p.Val159=) single nucleotide variant Benign rs143203868 GRCh38 Chromosome 2, 107997866: 107997866
29 SLC5A7 NM_021815.4(SLC5A7): c.390G> A (p.Leu130=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 108609525: 108609525
30 SLC5A7 NM_021815.4(SLC5A7): c.390G> A (p.Leu130=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 107993069: 107993069
31 SLC5A7 NM_021815.4(SLC5A7): c.498C> A (p.Ile166=) single nucleotide variant Likely benign rs138947334 GRCh37 Chromosome 2, 108614343: 108614343
32 SLC5A7 NM_021815.4(SLC5A7): c.498C> A (p.Ile166=) single nucleotide variant Likely benign rs138947334 GRCh38 Chromosome 2, 107997887: 107997887
33 SLC5A7 NM_021815.4(SLC5A7): c.636C> T (p.Val212=) single nucleotide variant Likely benign rs200804007 GRCh37 Chromosome 2, 108618391: 108618391
34 SLC5A7 NM_021815.4(SLC5A7): c.636C> T (p.Val212=) single nucleotide variant Likely benign rs200804007 GRCh38 Chromosome 2, 108001935: 108001935
35 SLC5A7 NM_021815.4(SLC5A7): c.826C> T (p.Leu276=) single nucleotide variant Benign rs78245030 GRCh38 Chromosome 2, 108006133: 108006133
36 SLC5A7 NM_021815.4(SLC5A7): c.826C> T (p.Leu276=) single nucleotide variant Benign rs78245030 GRCh37 Chromosome 2, 108622589: 108622589
37 SLC5A7 NM_021815.4(SLC5A7): c.504T> C (p.Ser168=) single nucleotide variant Likely benign rs752342608 GRCh38 Chromosome 2, 107997893: 107997893
38 SLC5A7 NM_021815.4(SLC5A7): c.504T> C (p.Ser168=) single nucleotide variant Likely benign rs752342608 GRCh37 Chromosome 2, 108614349: 108614349
39 SLC5A7 NM_021815.4(SLC5A7): c.1237G> A (p.Val413Ile) single nucleotide variant Likely benign rs138945146 GRCh38 Chromosome 2, 108010355: 108010355
40 SLC5A7 NM_021815.4(SLC5A7): c.1237G> A (p.Val413Ile) single nucleotide variant Likely benign rs138945146 GRCh37 Chromosome 2, 108626811: 108626811
41 SLC5A7 NM_021815.4(SLC5A7): c.1254C> A (p.Phe418Leu) single nucleotide variant Uncertain significance rs770003632 GRCh38 Chromosome 2, 108010372: 108010372
42 SLC5A7 NM_021815.4(SLC5A7): c.1254C> A (p.Phe418Leu) single nucleotide variant Uncertain significance rs770003632 GRCh37 Chromosome 2, 108626828: 108626828
43 SLC5A7 NM_021815.4(SLC5A7): c.119A> C (p.Glu40Ala) single nucleotide variant Uncertain significance rs770628227 GRCh37 Chromosome 2, 108604730: 108604730
44 SLC5A7 NM_021815.4(SLC5A7): c.119A> C (p.Glu40Ala) single nucleotide variant Uncertain significance rs770628227 GRCh38 Chromosome 2, 107988274: 107988274
45 SLC5A7 NM_021815.4(SLC5A7): c.1266T> G (p.Leu422=) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 108626840: 108626840
46 SLC5A7 NM_021815.4(SLC5A7): c.1266T> G (p.Leu422=) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 108010384: 108010384
47 SLC5A7 NM_021815.4(SLC5A7): c.1453G> A (p.Val485Ile) single nucleotide variant Uncertain significance rs754211137 GRCh37 Chromosome 2, 108627027: 108627027
48 SLC5A7 NM_021815.4(SLC5A7): c.1453G> A (p.Val485Ile) single nucleotide variant Uncertain significance rs754211137 GRCh38 Chromosome 2, 108010571: 108010571
49 SLC5A7 NM_021815.4(SLC5A7): c.1643G> A (p.Arg548Gln) single nucleotide variant Uncertain significance rs199864231 GRCh37 Chromosome 2, 108627217: 108627217
50 SLC5A7 NM_021815.4(SLC5A7): c.1643G> A (p.Arg548Gln) single nucleotide variant Uncertain significance rs199864231 GRCh38 Chromosome 2, 108010761: 108010761

Expression for Neuronopathy, Distal Hereditary Motor, Type Viia

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Pathways for Neuronopathy, Distal Hereditary Motor, Type Viia

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Viia

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