HMN7A
MCID: NRN025
MIFTS: 32

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 56 29 13 6
Hmn Viia 56 12 73
Dhmn7a 56 12 73
Hmn7a 56 12 73
Neuropathy, Distal Hereditary Motor, Type Viia 56 71
Distal Hereditary Motor Neuronopathy Type 7a 12 15
Distal Hereditary Motor Neuropathy Type Viia 12 73
Harper-Young Myopathy 56 73
Dhmnvp 56 73
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis Type 7a 12
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis 73
Spinal Muscular Atrophy, Distal, with Vocal Cord Paralysis 56
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis 73
Neuropathy, Motor, Distal, Hereditary, Type Viia 39
Distal Hereditary Motor Neuronopathy Type Viia 73
Neuronopathy, Distal Hereditary Motor, 7a 73
Harper-Young Myopath 12

Characteristics:

OMIM:

56
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 56 158580
MeSH 43 D009134
MedGen 41 C1834703
UMLS 71 C1834703

Summaries for Neuronopathy, Distal Hereditary Motor, Type Viia

UniProtKB/Swiss-Prot : 73 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 peripheral neuropathy

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 : 56 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

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 peripheral neuropathy 31 HP:0009830
3 vocal cord paralysis 31 HP:0001605
4 pes cavus 31 HP:0001761
5 hyporeflexia 31 HP:0001265
6 distal amyotrophy 31 HP:0003693
7 vocal cord paresis 31 HP:0001604
8 distal muscle weakness 31 HP:0002460
9 difficulty walking 31 HP:0002355

Symptoms via clinical synopsis from OMIM:

56
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

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. 56 6
23141292 2012
2
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. 56 6
11294660 2001
3
Hereditary distal spinal muscular atrophy with vocal cord paralysis. 6 56
7420092 1980
4
Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes. 56
18956029 2008
5
Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice. 56
15173594 2004
6
Distal spinal muscular atrophy with vocal cord paralysis. 56
1552559 1992
7
Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy? 56
2918537 1989
8
[Chronic spinal amyotrophy with paralysis of the vocal cords: Young-Harper syndrome]. 56
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 100) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC5A7 NM_021815.5(SLC5A7):c.1497del (p.Lys499fs)deletion Conflicting interpretations of pathogenicity 39495 rs1558872865 2:108627071-108627071 2:108010615-108010615
2 SLC5A7 NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu)SNV Uncertain significance 265761 rs886039765 2:108608577-108608577 2:107992121-107992121
3 SLC5A7 NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser)SNV Uncertain significance 265762 rs886039766 2:108609448-108609448 2:107992992-107992992
4 covers 15 genes, none of which curated to show dosage sensitivity duplication Uncertain significance 464169 2:107988136-108963283
5 SLC5A7 NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe)SNV Uncertain significance 464173 rs60964124 2:108608658-108608658 2:107992202-107992202
6 SLC5A7 NM_021815.5(SLC5A7):c.878C>T (p.Ala293Val)SNV Uncertain significance 464176 rs1553459529 2:108622641-108622641 2:108006185-108006185
7 SLC5A7 NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met)SNV Uncertain significance 440281 rs148535388 2:108626880-108626880 2:108010424-108010424
8 SLC5A7 NM_021815.5(SLC5A7):c.1673C>G (p.Thr558Ser)SNV Uncertain significance 450240 rs747026995 2:108627247-108627247 2:108010791-108010791
9 SLC5A7 NM_021815.5(SLC5A7):c.1690C>G (p.Leu564Val)SNV Uncertain significance 464172 rs1553460067 2:108627264-108627264 2:108010808-108010808
10 SLC5A7 NM_021815.5(SLC5A7):c.177A>G (p.Thr59=)SNV Uncertain significance 532817 rs1553457528 2:108604788-108604788 2:107988332-107988332
11 SLC5A7 NM_021815.5(SLC5A7):c.178+6T>CSNV Uncertain significance 532816 rs1553457530 2:108604795-108604795 2:107988339-107988339
12 SLC5A7 NM_021815.5(SLC5A7):c.1254C>A (p.Phe418Leu)SNV Uncertain significance 532812 rs770003632 2:108626828-108626828 2:108010372-108010372
13 SLC5A7 NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala)SNV Uncertain significance 532815 rs770628227 2:108604730-108604730 2:107988274-107988274
14 SLC5A7 NM_021815.5(SLC5A7):c.1266T>G (p.Leu422=)SNV Uncertain significance 532811 rs1553459987 2:108626840-108626840 2:108010384-108010384
15 SLC5A7 NM_021815.5(SLC5A7):c.1453G>A (p.Val485Ile)SNV Uncertain significance 532813 rs754211137 2:108627027-108627027 2:108010571-108010571
16 SLC5A7 NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln)SNV Uncertain significance 532814 rs199864231 2:108627217-108627217 2:108010761-108010761
17 SLC5A7 NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile)SNV Uncertain significance 549706 rs773393717 2:108627123-108627123 2:108010667-108010667
18 SLC5A7 NC_000002.11:g.(?_108604592)_(108627337_?)dupduplication Uncertain significance 583584 2:108604592-108627337 2:107988136-108010881
19 SLC5A7 NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr)SNV Uncertain significance 567377 rs1057353436 2:108604646-108604646 2:107988190-107988190
20 SLC5A7 NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu)SNV Uncertain significance 575621 rs1558857378 2:108604653-108604653 2:107988197-107988197
21 SLC5A7 NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val)SNV Uncertain significance 572195 rs1558859918 2:108608643-108608643 2:107992187-107992187
22 SLC5A7 NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe)SNV Uncertain significance 572646 rs748901270 2:108609520-108609520 2:107993064-107993064
23 SLC5A7 NM_021815.5(SLC5A7):c.463G>A (p.Val155Met)SNV Uncertain significance 581054 rs775903161 2:108614308-108614308 2:107997852-107997852
24 SLC5A7 NM_021815.5(SLC5A7):c.716C>T (p.Ser239Phe)SNV Uncertain significance 566845 rs778161682 2:108618471-108618471 2:108002015-108002015
25 SLC5A7 NM_021815.5(SLC5A7):c.1113+6A>GSNV Uncertain significance 566138 rs766515861 2:108625144-108625144 2:108008688-108008688
26 SLC5A7 NM_021815.5(SLC5A7):c.1202C>G (p.Thr401Ser)SNV Uncertain significance 570704 rs1558872383 2:108626776-108626776 2:108010320-108010320
27 SLC5A7 NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys)SNV Uncertain significance 581108 rs760447400 2:108604729-108604729 2:107988273-107988273
28 SLC5A7 NM_021815.5(SLC5A7):c.419T>G (p.Phe140Cys)SNV Uncertain significance 565655 rs1558860651 2:108609554-108609554 2:107993098-107993098
29 SLC5A7 NM_021815.5(SLC5A7):c.1436T>G (p.Phe479Cys)SNV Uncertain significance 579210 rs1274120636 2:108627010-108627010 2:108010554-108010554
30 SLC5A7 NM_021815.5(SLC5A7):c.1553T>C (p.Val518Ala)SNV Uncertain significance 570904 rs1558872967 2:108627127-108627127 2:108010671-108010671
31 SLC5A7 NM_021815.5(SLC5A7):c.373C>T (p.Arg125Cys)SNV Uncertain significance 571313 rs757211775 2:108609508-108609508 2:107993052-107993052
32 SLC5A7 NM_021815.5(SLC5A7):c.427G>A (p.Ala143Thr)SNV Uncertain significance 574169 rs1558860658 2:108609562-108609562 2:107993106-107993106
33 SLC5A7 NM_021815.5(SLC5A7):c.1319T>C (p.Val440Ala)SNV Uncertain significance 578654 rs1446985615 2:108626893-108626893 2:108010437-108010437
34 SLC5A7 NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe)SNV Uncertain significance 580577 rs754554826 2:108626896-108626896 2:108010440-108010440
35 SLC5A7 NM_021815.5(SLC5A7):c.1387C>T (p.Pro463Ser)SNV Uncertain significance 579028 rs1558872670 2:108626961-108626961 2:108010505-108010505
36 SLC5A7 NM_021815.5(SLC5A7):c.1630C>T (p.Leu544Phe)SNV Uncertain significance 571973 rs780371731 2:108627204-108627204 2:108010748-108010748
37 SLC5A7 NM_021815.5(SLC5A7):c.1670T>C (p.Phe557Ser)SNV Uncertain significance 582728 rs1558873189 2:108627244-108627244 2:108010788-108010788
38 SLC5A7 NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val)SNV Uncertain significance 582726 rs911790588 2:108604642-108604642 2:107988186-107988186
39 SLC5A7 NM_021815.5(SLC5A7):c.1246G>A (p.Val416Ile)SNV Uncertain significance 580407 rs759833850 2:108626820-108626820 2:108010364-108010364
40 SLC5A7 NM_021815.5(SLC5A7):c.788C>G (p.Ser263Cys)SNV Uncertain significance 650043 2:108622551-108622551 2:108006095-108006095
41 SLC5A7 NM_021815.5(SLC5A7):c.973C>A (p.Gln325Lys)SNV Uncertain significance 650165 2:108624998-108624998 2:108008542-108008542
42 SLC5A7 NM_021815.5(SLC5A7):c.1478G>T (p.Cys493Phe)SNV Uncertain significance 648681 2:108627052-108627052 2:108010596-108010596
43 SLC5A7 NM_021815.5(SLC5A7):c.1517C>T (p.Thr506Ile)SNV Uncertain significance 641212 2:108627091-108627091 2:108010635-108010635
44 SLC5A7 NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile)SNV Uncertain significance 663054 2:108627103-108627103 2:108010647-108010647
45 SLC5A7 NM_021815.5(SLC5A7):c.1699G>T (p.Asp567Tyr)SNV Uncertain significance 660132 2:108627273-108627273 2:108010817-108010817
46 SLC5A7 NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly)SNV Uncertain significance 654254 2:108604721-108604721 2:107988265-107988265
47 SLC5A7 NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu)SNV Uncertain significance 660026 2:108608613-108608613 2:107992157-107992157
48 SLC5A7 NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His)SNV Uncertain significance 660446 2:108608621-108608621 2:107992165-107992165
49 SLC5A7 NM_021815.5(SLC5A7):c.534G>A (p.Val178=)SNV Uncertain significance 654175 2:108614379-108614379 2:107997923-107997923
50 SLC5A7 NM_021815.5(SLC5A7):c.679C>G (p.Pro227Ala)SNV Uncertain significance 663865 2:108618434-108618434 2:108001978-108001978

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
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43 MeSH
44 MESH via Orphanet
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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