MCID: ATS426
MIFTS: 27

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 59 6
Autosomal Dominant Distal Spinal Muscular Atrophy 12 59
Autosomal Dominant Dhmn 12 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111198
ICD10 via Orphanet 34 G12.1
Orphanet 59 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 muscular atrophy and spinal muscular atrophy. 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 27)
# Related Disease Score Top Affiliating Genes
1 muscular atrophy 29.7 TRPV4 IGHMBP2 BICD2
2 spinal muscular atrophy 29.6 TRPV4 IGHMBP2 BICD2
3 tooth disease 29.0 TRPV4 LMNA IGHMBP2
4 charcot-marie-tooth disease 28.8 TRPV4 LMNA IGHMBP2
5 neuronopathy, distal hereditary motor, type i 11.5
6 neuronopathy, distal hereditary motor, type viii 11.5
7 neuronopathy, distal hereditary motor, type va 11.5
8 distal hereditary motor neuronopathy type 7 11.5
9 distal hereditary motor neuronopathy type 2 11.5
10 charcot-marie-tooth hereditary neuropathy 10.4
11 neuropathy 10.3
12 distal hereditary motor neuropathies 10.3
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 proximal spinal muscular atrophy 9.5 LMNA BICD2
24 charcot-marie-tooth disease, axonal, type 2e 9.4 LMNA IGHMBP2
25 axonal neuropathy 9.4 TRPV4 LMNA
26 neuromuscular disease 9.2 TRPV4 LMNA
27 muscular disease 9.0 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:

46
# 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. 38
30503856 2018
2
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability. 38
29107646 2018
3
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. 38
29088354 2017
4
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. 38
28369220 2017
5
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? 38
19396477 2009
6
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. 38
18832141 2008
7
Membrane topology of the human seipin protein. 38
16574104 2006
8
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 38
15732094 2005
9
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. 38
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 59)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BICD2 NM_001003800.2(BICD2): c.1604C> T (p.Ala535Val) single nucleotide variant Pathogenic 9:95481323-95481323 9:92719041-92719041
2 BICD2 NM_001003800.2(BICD2): c.565A> T (p.Ile189Phe) single nucleotide variant Pathogenic 9:95484979-95484979 9:92722697-92722697
3 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 12:110236628-110236628 12:109798823-109798823
4 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 12:110236625-110236625 12:109798820-109798820
5 IGHMBP2 NM_002180.2(IGHMBP2): c.439C> T (p.Arg147Ter) single nucleotide variant Pathogenic rs1324667543 11:68675795-68675795 11:68908327-68908327
6 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 12:110240814-110240814 12:109803009-109803009
7 BICD2 NM_001003800.2(BICD2): c.320C> T (p.Ser107Leu) single nucleotide variant Pathogenic rs398123028 9:95491439-95491439 9:92729157-92729157
8 LMNA NM_005572.3(LMNA): c.1057C> T (p.Gln353Ter) single nucleotide variant Pathogenic rs267607623 1:156105812-156105812 1:156136021-156136021
9 IGHMBP2 NM_002180.2(IGHMBP2): c.978_982AAGAA[1] (p.Lys328fs) short repeat Pathogenic/Likely pathogenic rs746581714 11:68685274-68685278 11:68917806-68917810
10 IGHMBP2 NM_002180.2(IGHMBP2): c.1478C> T (p.Thr493Ile) single nucleotide variant Pathogenic/Likely pathogenic rs780594709 11:68701322-68701322 11:68933854-68933854
11 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs786205090 11:68704560-68704560 11:68937092-68937092
12 IGHMBP2 NM_002180.2(IGHMBP2): c.1336C> T (p.Gln446Ter) single nucleotide variant Pathogenic/Likely pathogenic 11:68700867-68700867 11:68933399-68933399
13 TRPV4 NM_021625.4(TRPV4): c.290C> G (p.Pro97Arg) single nucleotide variant Likely pathogenic rs876661124 12:110252312-110252312 12:109814507-109814507
14 IGHMBP2 NM_002180.2(IGHMBP2): c.449+1G> T single nucleotide variant Likely pathogenic rs797044802 11:68675806-68675806 11:68908338-68908338
15 DYNC1H1 NM_001376.5(DYNC1H1): c.1793G> T (p.Arg598Leu) single nucleotide variant Likely pathogenic rs879254085 14:102452355-102452355 14:101986018-101986018
16 BICD2 NM_001003800.2(BICD2): c.269A> G (p.Lys90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61754130 9:95491490-95491490 9:92729208-92729208
17 DYNC1H1 NM_001376.5(DYNC1H1): c.1750A> C (p.Ile584Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs387906741 14:102452312-102452312 14:101985975-101985975
18 IGHMBP2 NM_002180.2(IGHMBP2): c.1730T> C (p.Leu577Pro) single nucleotide variant Uncertain significance rs1483165002 11:68702864-68702864 11:68935396-68935396
19 DYNC1H1 NM_001376.5(DYNC1H1): c.4808G> C (p.Arg1603Thr) single nucleotide variant Uncertain significance 14:102469227-102469227 14:102002890-102002890
20 DYNC1H1 NM_001376.5(DYNC1H1): c.791G> A (p.Arg264Gln) single nucleotide variant Uncertain significance rs713993043 14:102446717-102446717 14:101980380-101980380
21 GARS1 NM_002047.4(GARS1): c.1955G> C (p.Gly652Ala) single nucleotide variant Uncertain significance 7:30671914-30671914 7:30632298-30632298
22 BICD2 NM_001003800.2(BICD2): c.2239C> T (p.Arg747Cys) single nucleotide variant Uncertain significance 9:95480098-95480098 9:92717816-92717816
23 IGHMBP2 NM_002180.2(IGHMBP2): c.1826C> A (p.Ala609Glu) single nucleotide variant Uncertain significance rs776775995 11:68703774-68703774 11:68936306-68936306
24 IGHMBP2 NM_002180.2(IGHMBP2): c.94C> T (p.Gln32Ter) single nucleotide variant Uncertain significance 11:68673544-68673544 11:68906076-68906076
25 IGHMBP2 NM_002180.2(IGHMBP2): c.114del (p.Glu39fs) deletion Uncertain significance 11:68673564-68673564 11:68906096-68906096
26 IGHMBP2 NM_002180.2(IGHMBP2): c.388C> T (p.Arg130Ter) single nucleotide variant Uncertain significance 11:68675744-68675744 11:68908276-68908276
27 IGHMBP2 NM_002180.2(IGHMBP2): c.464T> A (p.Leu155Gln) single nucleotide variant Uncertain significance 11:68676016-68676016 11:68908548-68908548
28 IGHMBP2 NM_002180.2(IGHMBP2): c.575T> C (p.Leu192Pro) single nucleotide variant Uncertain significance 11:68678935-68678935 11:68911467-68911467
29 IGHMBP2 NM_002180.2(IGHMBP2): c.587A> G (p.Gln196Arg) single nucleotide variant Uncertain significance 11:68678947-68678947 11:68911479-68911479
30 IGHMBP2 NM_002180.2(IGHMBP2): c.595G> C (p.Ala199Pro) single nucleotide variant Uncertain significance 11:68678955-68678955 11:68911487-68911487
31 IGHMBP2 NM_002180.2(IGHMBP2): c.676G> T (p.Glu226Ter) single nucleotide variant Uncertain significance 11:68679036-68679036 11:68911568-68911568
32 IGHMBP2 NM_002180.2(IGHMBP2): c.780del (p.Gln260fs) deletion Uncertain significance 11:68682359-68682359 11:68914891-68914891
33 IGHMBP2 NM_002180.2(IGHMBP2): c.1000G> A (p.Glu334Lys) single nucleotide variant Uncertain significance 11:68685291-68685291 11:68917823-68917823
34 IGHMBP2 NM_002180.2(IGHMBP2): c.1091T> C (p.Leu364Pro) single nucleotide variant Uncertain significance 11:68696681-68696681 11:68929213-68929213
35 IGHMBP2 NM_002180.2(IGHMBP2): c.1183T> C (p.Cys395Arg) single nucleotide variant Uncertain significance 11:68696773-68696773 11:68929305-68929305
36 IGHMBP2 NM_002180.2(IGHMBP2): c.1218del (p.Thr407fs) deletion Uncertain significance 11:68696808-68696808 11:68929340-68929340
37 IGHMBP2 NM_002180.2(IGHMBP2): c.1263C> A (p.Ser421Arg) single nucleotide variant Uncertain significance 11:68700794-68700794 11:68933326-68933326
38 IGHMBP2 NM_002180.2(IGHMBP2): c.1519C> T (p.Gln507Ter) single nucleotide variant Uncertain significance 11:68701363-68701363 11:68933895-68933895
39 IGHMBP2 NM_002180.2(IGHMBP2): c.1610T> A (p.Val537Glu) single nucleotide variant Uncertain significance 11:68702004-68702004 11:68934536-68934536
40 IGHMBP2 NM_002180.2(IGHMBP2): c.1615_1623del (p.Ser539_Tyr541del) deletion Uncertain significance 11:68702008-68702016 11:68934541-68934549
41 IGHMBP2 NM_002180.2(IGHMBP2): c.1682T> C (p.Ile561Thr) single nucleotide variant Uncertain significance 11:68702816-68702816 11:68935348-68935348
42 IGHMBP2 NM_002180.2(IGHMBP2): c.1707C> T (p.Gly569=) single nucleotide variant Uncertain significance 11:68702841-68702841 11:68935373-68935373
43 IGHMBP2 NM_002180.2(IGHMBP2): c.1714_1716del (p.Lys572del) deletion Uncertain significance 11:68702846-68702848 11:68935380-68935382
44 IGHMBP2 NM_002180.2(IGHMBP2): c.1794C> A (p.Asn598Lys) single nucleotide variant Uncertain significance 11:68703742-68703742 11:68936274-68936274
45 IGHMBP2 NM_002180.2(IGHMBP2): c.1817G> A (p.Arg606His) single nucleotide variant Uncertain significance 11:68703765-68703765 11:68936297-68936297
46 IGHMBP2 NM_002180.2(IGHMBP2): c.2083A> T (p.Lys695Ter) single nucleotide variant Uncertain significance 11:68704031-68704031 11:68936563-68936563
47 IGHMBP2 NM_002180.2(IGHMBP2): c.2362C> T (p.Arg788Ter) single nucleotide variant Uncertain significance 11:68704310-68704310 11:68936842-68936842
48 IGHMBP2 NM_002180.2(IGHMBP2): c.2436del (p.Ala813fs) deletion Uncertain significance 11:68704384-68704384 11:68936916-68936916
49 IGHMBP2 NM_002180.2(IGHMBP2): c.2598_2601del (p.Lys868fs) deletion Uncertain significance 11:68704543-68704546 11:68937078-68937081
50 DYNC1H1 NM_001376.5(DYNC1H1): c.1012G> A (p.Asp338Asn) single nucleotide variant Uncertain significance 14:102449406-102449406 14:101983069-101983069

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 nuclear envelope GO:0005635 8.96 LMNA BICD2
2 growth cone GO:0030426 8.62 TRPV4 IGHMBP2

Sources for Autosomal Dominant Distal Hereditary Motor Neuronopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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17 EFO
18 ExPASy
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28 GO
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33 ICD10
34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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