HMN7A
MCID: NRN025
MIFTS: 33

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
Hmn Viia 57 12 72
Dhmn7a 57 12 72
Hmn7a 57 12 72
Neuropathy, Distal Hereditary Motor, Type Viia 57 70
Distal Hereditary Motor Neuronopathy Type 7a 12 15
Distal Hereditary Motor Neuropathy Type Viia 12 72
Harper-Young Myopathy 57 72
Dhmnvp 57 72
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis Type 7a 12
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis 72
Spinal Muscular Atrophy, Distal, with Vocal Cord Paralysis 57
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis 72
Neuropathy, Motor, Distal, Hereditary, Type Viia 39
Distal Hereditary Motor Neuronopathy Type Viia 72
Neuronopathy, Distal Hereditary Motor, 7a 72
Harper-Young Myopath 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
onset in second decade
wasting of hands often occurs first
clinical overlap with charcot-marie-tooth disease type 2c

Inheritance:
autosomal dominant


HPO:

31
neuronopathy, distal hereditary motor, type viia:
Inheritance autosomal dominant inheritance
Onset and clinical course onset slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0111201
OMIM® 57 158580
MeSH 44 D009134
MedGen 41 C1834703
UMLS 70 C1834703

Summaries for Neuronopathy, Distal Hereditary Motor, Type Viia

UniProtKB/Swiss-Prot : 72 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 hmn viia, is related to distal hereditary motor neuronopathy type 7 and distal hereditary motor neuropathy type 7. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Viia is SLC5A7 (Solute Carrier Family 5 Member 7), and among its related pathways/superpathways is Transmission across Chemical Synapses. Affiliated tissues include spinal cord, and related phenotypes are tremor and vocal cord paralysis

Disease Ontology : 12 A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has material basis in heterozygous mutation in SLC5A7 on 2q12.3.

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) (Updated 20-May-2021)

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

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 tremor 31 occasional (7.5%) HP:0001337
2 vocal cord paralysis 31 HP:0001605
3 pes cavus 31 HP:0001761
4 peripheral neuropathy 31 HP:0009830
5 hyporeflexia 31 HP:0001265
6 vocal cord paresis 31 HP:0001604
7 distal muscle weakness 31 HP:0002460
8 difficulty walking 31 HP:0002355
9 distal amyotrophy 31 HP:0003693

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes cavus

Respiratory Larynx:
vocal cord paresis

Neurologic Peripheral Nervous System:
hyporeflexia
vocal cord paresis
difficulty walking
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 (Updated 20-May-2021)

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:

40
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Viia

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

# Title Authors PMID Year
1
Defective presynaptic choline transport underlies hereditary motor neuropathy. 6 57
23141292 2012
2
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. 57 6
11294660 2001
3
Hereditary distal spinal muscular atrophy with vocal cord paralysis. 6 57
7420092 1980
4
Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes. 57
18956029 2008
5
Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice. 57
15173594 2004
6
Distal spinal muscular atrophy with vocal cord paralysis. 57
1552559 1992
7
Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy? 57
2918537 1989
8
[Chronic spinal amyotrophy with paralysis of the vocal cords: Young-Harper syndrome]. 57
6505493 1984
9
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 61
27569547 2016

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 144)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC5A7 NM_021815.5(SLC5A7):c.1497del (p.Lys499fs) Deletion Pathogenic 39495 rs1558872865 GRCh37: 2:108627071-108627071
GRCh38: 2:108010615-108010615
2 SLC5A7 NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe) SNV Uncertain significance 572646 rs748901270 GRCh37: 2:108609520-108609520
GRCh38: 2:107993064-107993064
3 SLC5A7 NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr) SNV Uncertain significance 834976 GRCh37: 2:108604732-108604732
GRCh38: 2:107988276-107988276
4 SLC5A7 NM_021815.5(SLC5A7):c.1414A>G (p.Ile472Val) SNV Uncertain significance 838607 GRCh37: 2:108626988-108626988
GRCh38: 2:108010532-108010532
5 SLC5A7 NM_021815.5(SLC5A7):c.952A>G (p.Met318Val) SNV Uncertain significance 840722 GRCh37: 2:108624977-108624977
GRCh38: 2:108008521-108008521
6 SLC5A7 NM_021815.5(SLC5A7):c.1727A>T (p.Glu576Val) SNV Uncertain significance 845541 GRCh37: 2:108627301-108627301
GRCh38: 2:108010845-108010845
7 SLC5A7 NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile) SNV Uncertain significance 549706 rs773393717 GRCh37: 2:108627123-108627123
GRCh38: 2:108010667-108010667
8 SLC5A7 NM_021815.5(SLC5A7):c.113G>A (p.Arg38His) SNV Uncertain significance 853219 GRCh37: 2:108604724-108604724
GRCh38: 2:107988268-107988268
9 SLC5A7 NM_021815.5(SLC5A7):c.1132G>A (p.Val378Ile) SNV Uncertain significance 944273 GRCh37: 2:108626706-108626706
GRCh38: 2:108010250-108010250
10 SLC5A7 NM_021815.5(SLC5A7):c.1496A>C (p.Lys499Thr) SNV Uncertain significance 945469 GRCh37: 2:108627070-108627070
GRCh38: 2:108010614-108010614
11 SLC5A7 NM_021815.5(SLC5A7):c.1685C>G (p.Ala562Gly) SNV Uncertain significance 948023 GRCh37: 2:108627259-108627259
GRCh38: 2:108010803-108010803
12 SLC5A7 NM_021815.5(SLC5A7):c.103G>A (p.Ala35Thr) SNV Uncertain significance 956971 GRCh37: 2:108604714-108604714
GRCh38: 2:107988258-107988258
13 SLC5A7 NM_021815.5(SLC5A7):c.1697T>C (p.Val566Ala) SNV Uncertain significance 968461 GRCh37: 2:108627271-108627271
GRCh38: 2:108010815-108010815
14 SLC5A7 NM_021815.5(SLC5A7):c.742-3C>T SNV Uncertain significance 1051095 GRCh37: 2:108622502-108622502
GRCh38: 2:108006046-108006046
15 SLC5A7 NM_021815.5(SLC5A7):c.877G>A (p.Ala293Thr) SNV Uncertain significance 1057624 GRCh37: 2:108622640-108622640
GRCh38: 2:108006184-108006184
16 SLC5A7 NM_021815.5(SLC5A7):c.815T>C (p.Val272Ala) SNV Uncertain significance 1063410 GRCh37: 2:108622578-108622578
GRCh38: 2:108006122-108006122
17 SLC5A7 NM_021815.5(SLC5A7):c.1138G>A (p.Val380Ile) SNV Uncertain significance 1063516 GRCh37: 2:108626712-108626712
GRCh38: 2:108010256-108010256
18 SLC5A7 NM_021815.5(SLC5A7):c.1118C>T (p.Ser373Leu) SNV Uncertain significance 1003108 GRCh37: 2:108626692-108626692
GRCh38: 2:108010236-108010236
19 SLC5A7 NM_021815.5(SLC5A7):c.451G>A (p.Ala151Thr) SNV Uncertain significance 1007028 GRCh37: 2:108614296-108614296
GRCh38: 2:107997840-107997840
20 SLC5A7 NM_021815.5(SLC5A7):c.10C>G (p.His4Asp) SNV Uncertain significance 1007426 GRCh37: 2:108604621-108604621
GRCh38: 2:107988165-107988165
21 SLC5A7 NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile) SNV Uncertain significance 1009227 GRCh37: 2:108608660-108608660
GRCh38: 2:107992204-107992204
22 SLC5A7 NM_021815.5(SLC5A7):c.292+1G>A SNV Uncertain significance 1009672 GRCh37: 2:108608676-108608676
GRCh38: 2:107992220-107992220
23 SLC5A7 NM_021815.5(SLC5A7):c.1716G>T (p.Gly572=) SNV Uncertain significance 1010996 GRCh37: 2:108627290-108627290
GRCh38: 2:108010834-108010834
24 SLC5A7 NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln) SNV Uncertain significance 532814 rs199864231 GRCh37: 2:108627217-108627217
GRCh38: 2:108010761-108010761
25 SLC5A7 NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala) SNV Uncertain significance 532815 rs770628227 GRCh37: 2:108604730-108604730
GRCh38: 2:107988274-107988274
26 SLC5A7 NM_021815.5(SLC5A7):c.1113+6A>G SNV Uncertain significance 566138 rs766515861 GRCh37: 2:108625144-108625144
GRCh38: 2:108008688-108008688
27 SLC5A7 NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe) SNV Uncertain significance 580577 rs754554826 GRCh37: 2:108626896-108626896
GRCh38: 2:108010440-108010440
28 SLC5A7 NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys) SNV Uncertain significance 581108 rs760447400 GRCh37: 2:108604729-108604729
GRCh38: 2:107988273-107988273
29 SLC5A7 NM_021815.5(SLC5A7):c.1081C>T (p.Arg361Trp) SNV Uncertain significance 837130 GRCh37: 2:108625106-108625106
GRCh38: 2:108008650-108008650
30 SLC5A7 NM_021815.5(SLC5A7):c.1409A>G (p.Asn470Ser) SNV Uncertain significance 863574 GRCh37: 2:108626983-108626983
GRCh38: 2:108010527-108010527
31 SLC5A7 NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly) SNV Uncertain significance 941424 GRCh37: 2:108626755-108626755
GRCh38: 2:108010299-108010299
32 SLC5A7 NM_021815.5(SLC5A7):c.872T>C (p.Ile291Thr) SNV Uncertain significance 944584 GRCh37: 2:108622635-108622635
GRCh38: 2:108006179-108006179
33 SLC5A7 NM_021815.5(SLC5A7):c.1145G>A (p.Arg382Gln) SNV Uncertain significance 945820 GRCh37: 2:108626719-108626719
GRCh38: 2:108010263-108010263
34 SLC5A7 NM_021815.5(SLC5A7):c.1144C>T (p.Arg382Ter) SNV Uncertain significance 1015765 GRCh37: 2:108626718-108626718
GRCh38: 2:108010262-108010262
35 SLC5A7 NM_021815.5(SLC5A7):c.1418A>G (p.Tyr473Cys) SNV Uncertain significance 1020129 GRCh37: 2:108626992-108626992
GRCh38: 2:108010536-108010536
36 SLC5A7 NM_021815.5(SLC5A7):c.428C>A (p.Ala143Glu) SNV Uncertain significance 1020661 GRCh37: 2:108609563-108609563
GRCh38: 2:107993107-107993107
37 SLC5A7 NM_021815.5(SLC5A7):c.26T>C (p.Ile9Thr) SNV Uncertain significance 1021994 GRCh37: 2:108604637-108604637
GRCh38: 2:107988181-107988181
38 SLC5A7 NM_021815.5(SLC5A7):c.1153G>T (p.Val385Leu) SNV Uncertain significance 1023547 GRCh37: 2:108626727-108626727
GRCh38: 2:108010271-108010271
39 SLC5A7 NM_021815.5(SLC5A7):c.1122C>A (p.Asp374Glu) SNV Uncertain significance 1023988 GRCh37: 2:108626696-108626696
GRCh38: 2:108010240-108010240
40 SLC5A7 NM_021815.5(SLC5A7):c.1357T>C (p.Tyr453His) SNV Uncertain significance 1024758 GRCh37: 2:108626931-108626931
GRCh38: 2:108010475-108010475
41 SLC5A7 NM_021815.5(SLC5A7):c.895+1G>C SNV Uncertain significance 1027324 GRCh37: 2:108622659-108622659
GRCh38: 2:108006203-108006203
42 SLC5A7 NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser) SNV Uncertain significance 265762 rs886039766 GRCh37: 2:108609448-108609448
GRCh38: 2:107992992-107992992
43 SLC5A7 NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met) SNV Uncertain significance 440281 rs148535388 GRCh37: 2:108626880-108626880
GRCh38: 2:108010424-108010424
44 SLC5A7 NM_021815.5(SLC5A7):c.1581dup (p.Lys528Ter) Duplication Uncertain significance 841330 GRCh37: 2:108627154-108627155
GRCh38: 2:108010698-108010699
45 SLC5A7 NM_021815.5(SLC5A7):c.682T>A (p.Trp228Arg) SNV Uncertain significance 844253 GRCh37: 2:108618437-108618437
GRCh38: 2:108001981-108001981
46 SLC5A7 NM_021815.5(SLC5A7):c.376A>G (p.Met126Val) SNV Uncertain significance 848076 GRCh37: 2:108609511-108609511
GRCh38: 2:107993055-107993055
47 SLC5A7 NM_021815.5(SLC5A7):c.1556C>G (p.Ala519Gly) SNV Uncertain significance 864560 GRCh37: 2:108627130-108627130
GRCh38: 2:108010674-108010674
48 SLC5A7 NM_021815.5(SLC5A7):c.568G>A (p.Val190Ile) SNV Uncertain significance 934360 GRCh37: 2:108614413-108614413
GRCh38: 2:107997957-107997957
49 SLC5A7 NM_021815.5(SLC5A7):c.625C>T (p.His209Tyr) SNV Uncertain significance 935581 GRCh37: 2:108618380-108618380
GRCh38: 2:108001924-108001924
50 SLC5A7 NM_021815.5(SLC5A7):c.1033A>T (p.Met345Leu) SNV Uncertain significance 950121 GRCh37: 2:108625058-108625058
GRCh38: 2:108008602-108008602

Expression for Neuronopathy, Distal Hereditary Motor, Type Viia

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type Viia

Pathways related to Neuronopathy, Distal Hereditary Motor, Type Viia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.48 SLC5A7 BCHE

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Viia

Molecular functions related to Neuronopathy, Distal Hereditary Motor, Type Viia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 choline binding GO:0033265 8.62 SLC5A7 BCHE

Sources for Neuronopathy, Distal Hereditary Motor, Type Viia

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
37 LifeMap
39 LOVD
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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