MCID: ATS426
MIFTS: 26

Autosomal Dominant Distal Hereditary Motor Neuronopathy

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

Aliases & Classifications for Autosomal Dominant Distal Hereditary Motor Neuronopathy

MalaCards integrated aliases for Autosomal Dominant Distal Hereditary Motor Neuronopathy:

Name: Autosomal Dominant Distal Hereditary Motor Neuronopathy 12
Autosomal Dominant Distal Hereditary Motor Neuropathy 12 58 6
Autosomal Dominant Distal Spinal Muscular Atrophy 12 58
Autosomal Dominant Dhmn 12 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111198
ICD10 via Orphanet 33 G12.1
Orphanet 58 ORPHA140465

Summaries for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Disease Ontology : 12 A spinal muscular atrophy that has material basis in autosomal dominant inheritance.

MalaCards based summary : Autosomal Dominant Distal Hereditary Motor Neuronopathy, also known as autosomal dominant distal hereditary motor neuropathy, is related to charcot-marie-tooth hereditary neuropathy and distal hereditary motor neuropathies. An important gene associated with Autosomal Dominant Distal Hereditary Motor Neuronopathy is BICD2 (BICD Cargo Adaptor 2). Related phenotypes are behavior/neurological and nervous system

Related Diseases for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Diseases in the Autosomal Dominant Distal Hereditary Motor Neuronopathy family:

Neuronopathy, Distal Hereditary Motor, Type Viia Neuronopathy, Distal Hereditary Motor, Type Iia
Neuronopathy, Distal Hereditary Motor, Type I Neuronopathy, Distal Hereditary Motor, Type Viii
Neuronopathy, Distal Hereditary Motor, Type Va Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Iib Neuronopathy, Distal Hereditary Motor, Type Iic
Neuronopathy, Distal Hereditary Motor, Type Vb Neuronopathy, Distal Hereditary Motor, Type Iid
Neuronopathy, Distal Hereditary Motor, Type Ix Autosomal Recessive Distal Hereditary Motor Neuronopathy
Distal Hereditary Motor Neuronopathy Type 7 Distal Hereditary Motor Neuronopathy Type 2

Diseases related to Autosomal Dominant Distal Hereditary Motor Neuronopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth hereditary neuropathy 30.4 TRPV4 IGHMBP2
2 distal hereditary motor neuropathies 30.1 TRPV4 IGHMBP2
3 tooth disease 29.3 TRPV4 LMNA IGHMBP2
4 neuropathy 29.2 TRPV4 LMNA IGHMBP2
5 muscular atrophy 28.9 TRPV4 SLC5A7 IGHMBP2 FBXO38 BICD2
6 spinal muscular atrophy 28.5 TRPV4 LMNA IGHMBP2 FBXO38 BICD2
7 charcot-marie-tooth disease 28.2 TRPV4 SLC5A7 LMNA IGHMBP2 BICD2
8 neuronopathy, distal hereditary motor, type i 11.5
9 neuronopathy, distal hereditary motor, type viii 11.5
10 neuronopathy, distal hereditary motor, type va 11.5
11 distal hereditary motor neuronopathy type 7 11.5
12 distal hereditary motor neuronopathy type 2 11.5
13 charcot-marie-tooth disease, axonal, type 2d 10.1
14 branchiootic syndrome 1 10.1
15 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 10.1
16 neuronopathy, distal hereditary motor, type iid 10.1
17 gars1-associated axonal neuropathy 10.1
18 autosomal dominant childhood-onset proximal spinal muscular atrophy 10.1
19 neuronopathy, distal hereditary motor, type ix 10.1
20 motor neuron disease 10.1
21 bscl2-related neurologic disorders/seipinopathy 10.1
22 berardinelli-seip congenital lipodystrophy 10.1
23 spinal muscular atrophy, distal, autosomal recessive, 2 9.8 TRPV4 BICD2
24 brown-vialetto-van laere syndrome 9.7 IGHMBP2 BICD2
25 proximal spinal muscular atrophy 9.7 LMNA BICD2
26 distal arthrogryposis 9.5 IGHMBP2 BICD2
27 axonal neuropathy 9.5 TRPV4 LMNA
28 motor peripheral neuropathy 9.4 TRPV4 IGHMBP2 BICD2
29 peripheral nervous system disease 9.2 TRPV4 LMNA
30 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.1 TRPV4 LMNA IGHMBP2
31 neuromuscular disease 9.1 TRPV4 LMNA IGHMBP2
32 muscular disease 9.1 LMNA IGHMBP2 BICD2
33 charcot-marie-tooth disease, axonal, type 2e 8.8 TRPV4 LMNA IGHMBP2 BICD2

Graphical network of the top 20 diseases related to Autosomal Dominant Distal Hereditary Motor Neuronopathy:



Diseases related to Autosomal Dominant Distal Hereditary Motor Neuronopathy

Symptoms & Phenotypes for Autosomal Dominant Distal Hereditary Motor Neuronopathy

MGI Mouse Phenotypes related to Autosomal Dominant Distal Hereditary Motor Neuronopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 BICD2 IGHMBP2 LMNA SLC5A7 TRPV4
2 nervous system MP:0003631 9.35 BICD2 IGHMBP2 LMNA SLC5A7 TRPV4
3 respiratory system MP:0005388 8.92 IGHMBP2 LMNA SLC5A7 TRPV4

Drugs & Therapeutics for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Genetic Tests for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Anatomical Context for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Publications for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Articles related to Autosomal Dominant Distal Hereditary Motor Neuronopathy:

# Title Authors PMID Year
1
TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy. 61
30503856 2019
2
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability. 61
29107646 2018
3
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. 61
29088354 2017
4
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. 61
28369220 2017
5
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? 61
19396477 2009
6
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. 61
18832141 2008
7
Membrane topology of the human seipin protein. 61
16574104 2006
8
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 61
15732094 2005
9
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. 61
10908191 2000

Variations for Autosomal Dominant Distal Hereditary Motor Neuronopathy

ClinVar genetic disease variations for Autosomal Dominant Distal Hereditary Motor Neuronopathy:

6 (show top 50) (show all 64) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)SNV Pathogenic 200939 rs267607623 1:156105812-156105812 1:156136021-156136021
2 TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)SNV Pathogenic 4999 rs267607143 12:110236628-110236628 12:109798823-109798823
3 TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)SNV Pathogenic 5001 rs267607145 12:110236625-110236625 12:109798820-109798820
4 TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009
5 BICD2 NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)SNV Pathogenic 55857 rs398123028 9:95491439-95491439 9:92729157-92729157
6 IGHMBP2 NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter)SNV Pathogenic 521206 rs1324667543 11:68675795-68675795 11:68908327-68908327
7 BICD2 NM_001003800.2(BICD2):c.1604C>T (p.Ala535Val)SNV Pathogenic 637066 9:95481323-95481323 9:92719041-92719041
8 BICD2 NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)SNV Pathogenic 637065 9:95484979-95484979 9:92722697-92722697
9 IGHMBP2 NM_002180.2(IGHMBP2):c.2611+1G>TSNV Pathogenic/Likely pathogenic 9118 rs786205090 11:68704560-68704560 11:68937092-68937092
10 IGHMBP2 NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs)short repeat Pathogenic/Likely pathogenic 217449 rs746581714 11:68685269-68685273 11:68917801-68917805
11 IGHMBP2 NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile)SNV Pathogenic/Likely pathogenic 217450 rs780594709 11:68701322-68701322 11:68933854-68933854
12 IGHMBP2 NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter)SNV Pathogenic/Likely pathogenic 620136 rs372181708 11:68700867-68700867 11:68933399-68933399
13 DYNC1H1 NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly)SNV Likely pathogenic 637515 14:102449589-102449589 14:101983252-101983252
14 TRPV4 NM_021625.4(TRPV4):c.290C>G (p.Pro97Arg)SNV Likely pathogenic 234619 rs876661124 12:110252312-110252312 12:109814507-109814507
15 IGHMBP2 NM_002180.2(IGHMBP2):c.449+1G>TSNV Likely pathogenic 204303 rs797044802 11:68675806-68675806 11:68908338-68908338
16 DYNC1H1 NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu)SNV Likely pathogenic 246081 rs879254085 14:102452355-102452355 14:101986018-101986018
17 BICD2 NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)SNV Conflicting interpretations of pathogenicity 235235 rs61754130 9:95491490-95491490 9:92729208-92729208
18 DYNC1H1 NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu)SNV Conflicting interpretations of pathogenicity 30032 rs387906741 14:102452312-102452312 14:101985975-101985975
19 IGHMBP2 NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)SNV Conflicting interpretations of pathogenicity 637262 11:68704310-68704310 11:68936842-68936842
20 IGHMBP2 NM_002180.3(IGHMBP2):c.2436del (p.Ala813fs)deletion Uncertain significance 637261 11:68704384-68704384 11:68936916-68936916
21 IGHMBP2 NM_002180.2(IGHMBP2):c.2598_2601del (p.Lys868fs)deletion Uncertain significance 637277 11:68704543-68704546 11:68937075-68937078
22 DYNC1H1 NM_001376.5(DYNC1H1):c.1012G>A (p.Asp338Asn)SNV Uncertain significance 637514 14:102449406-102449406 14:101983069-101983069
23 GARS1 NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala)SNV Uncertain significance 637543 7:30671914-30671914 7:30632298-30632298
24 BICD2 NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)SNV Uncertain significance 637067 9:95480098-95480098 9:92717816-92717816
25 IGHMBP2 NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu)SNV Uncertain significance 466585 rs776775995 11:68703774-68703774 11:68936306-68936306
26 DYNC1H1 NM_001376.5(DYNC1H1):c.1741A>C (p.Met581Leu)SNV Uncertain significance 637516 14:102452303-102452303 14:101985966-101985966
27 DYNC1H1 NM_001376.5(DYNC1H1):c.1808A>T (p.Glu603Val)SNV Uncertain significance 637517 14:102452370-102452370 14:101986033-101986033
28 DYNC1H1 NM_001376.5(DYNC1H1):c.1834G>A (p.Val612Met)SNV Uncertain significance 637518 14:102452396-102452396 14:101986059-101986059
29 DYNC1H1 NM_001376.5(DYNC1H1):c.2019G>C (p.Trp673Cys)SNV Uncertain significance 637519 14:102452581-102452581 14:101986244-101986244
30 DYNC1H1 NM_001376.5(DYNC1H1):c.7846G>A (p.Glu2616Lys)SNV Uncertain significance 637520 14:102483334-102483334 14:102016997-102016997
31 IGHMBP2 NM_002180.2(IGHMBP2):c.711+1G>CSNV Uncertain significance 637269 11:68679072-68679072 11:68911604-68911604
32 FIG4 NC_000006.12:g.109765128A>GSNV Uncertain significance 694985 6:110086331-110086331 6:109765128-109765128
33 NEFL NC_000008.11:g.24953635T>GSNV Uncertain significance 695000 8:24811149-24811149 8:24953635-24953635
34 IGHMBP2 NC_000011.10:g.68939709G>ASNV Uncertain significance 694864 11:68707177-68707177 11:68939709-68939709
35 DYNC1H1 NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)SNV Uncertain significance 210883 rs713993043 14:102446717-102446717 14:101980380-101980380
36 IGHMBP2 NM_002180.2(IGHMBP2):c.1730T>C (p.Leu577Pro)SNV Uncertain significance 522868 rs1483165002 11:68702864-68702864 11:68935396-68935396
37 DYNC1H1 NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)SNV Uncertain significance 560995 rs1555409418 14:102469227-102469227 14:102002890-102002890
38 MORC2 NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)SNV Uncertain significance 568470 rs548292999 22:31331294-31331294 22:30935307-30935307
39 IGHMBP2 NM_002180.2(IGHMBP2):c.94C>T (p.Gln32Ter)SNV Uncertain significance 637266 11:68673544-68673544 11:68906076-68906076
40 IGHMBP2 NM_002180.3(IGHMBP2):c.114del (p.Glu39fs)deletion Uncertain significance 637698 11:68673562-68673562 11:68906094-68906094
41 IGHMBP2 NM_002180.2(IGHMBP2):c.388C>T (p.Arg130Ter)SNV Uncertain significance 637263 11:68675744-68675744 11:68908276-68908276
42 IGHMBP2 NM_002180.2(IGHMBP2):c.464T>A (p.Leu155Gln)SNV Uncertain significance 637265 11:68676016-68676016 11:68908548-68908548
43 IGHMBP2 NM_002180.2(IGHMBP2):c.575T>C (p.Leu192Pro)SNV Uncertain significance 637696 11:68678935-68678935 11:68911467-68911467
44 IGHMBP2 NM_002180.2(IGHMBP2):c.587A>G (p.Gln196Arg)SNV Uncertain significance 637271 11:68678947-68678947 11:68911479-68911479
45 IGHMBP2 NM_002180.2(IGHMBP2):c.595G>C (p.Ala199Pro)SNV Uncertain significance 637267 11:68678955-68678955 11:68911487-68911487
46 IGHMBP2 NM_002180.2(IGHMBP2):c.676G>T (p.Glu226Ter)SNV Uncertain significance 637691 11:68679036-68679036 11:68911568-68911568
47 IGHMBP2 NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)deletion Uncertain significance 637270 11:68682359-68682359 11:68914891-68914891
48 IGHMBP2 NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)SNV Uncertain significance 637697 11:68685291-68685291 11:68917823-68917823
49 IGHMBP2 NM_002180.2(IGHMBP2):c.1091T>C (p.Leu364Pro)SNV Uncertain significance 637900 11:68696681-68696681 11:68929213-68929213
50 IGHMBP2 NM_002180.2(IGHMBP2):c.1183T>C (p.Cys395Arg)SNV Uncertain significance 637274 11:68696773-68696773 11:68929305-68929305

Expression for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Search GEO for disease gene expression data for Autosomal Dominant Distal Hereditary Motor Neuronopathy.

Pathways for Autosomal Dominant Distal Hereditary Motor Neuronopathy

GO Terms for Autosomal Dominant Distal Hereditary Motor Neuronopathy

Cellular components related to Autosomal Dominant Distal Hereditary Motor Neuronopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth cone GO:0030426 8.62 TRPV4 IGHMBP2

Sources for Autosomal Dominant Distal Hereditary Motor Neuronopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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