HMN2
MCID: DST106
MIFTS: 22

Distal Hereditary Motor Neuronopathy Type 2 (HMN2)

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

Aliases & Classifications for Distal Hereditary Motor Neuronopathy Type 2

MalaCards integrated aliases for Distal Hereditary Motor Neuronopathy Type 2:

Name: Distal Hereditary Motor Neuronopathy Type 2 12
Neuropathy, Motor, Distal, Hereditary, Type Ii 40
Distal Hereditary Motor Neuronopathy, Type Ii 25
Distal Hereditary Motor Neuropathy, Type Ii 25
Distal Hereditary Motor Neuropathy Type Ii 12
Distal Hereditary Motor Neuropathy Type 2 59
Distal Spinal Muscular Atrophy Type 2 59
Hmn Ii 12
Dsma2 59
Dhmn2 59
Hmn2 12

Characteristics:

Orphanet epidemiological data:

59
distal hereditary motor neuropathy type 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111206
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 73 C1854023 C3711384
Orphanet 59 ORPHA139525
UMLS 72 C3711384

Summaries for Distal Hereditary Motor Neuronopathy Type 2

Genetics Home Reference : 25 Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs. Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and later, the entire foot. Over a period of approximately 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking and running, and eventually may have complete paralysis of the lower legs. The thigh muscles may also be affected, although generally this occurs later and is less severe. Some individuals with distal hereditary motor neuropathy, type II have weakening of the muscles in the hands and forearms. This weakening is less pronounced than in the lower limbs and does not usually result in paralysis.

MalaCards based summary : Distal Hereditary Motor Neuronopathy Type 2, also known as neuropathy, motor, distal, hereditary, type ii, is related to charcot-marie-tooth disease and tooth disease. An important gene associated with Distal Hereditary Motor Neuronopathy Type 2 is FBXO38 (F-Box Protein 38). Affiliated tissues include spinal cord.

Disease Ontology : 12 An autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness.

Related Diseases for Distal Hereditary Motor Neuronopathy Type 2

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 Distal Hereditary Motor Neuronopathy Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.1 HSPB8 HSPB1
2 tooth disease 29.8 HSPB8 HSPB1
3 charcot-marie-tooth disease, axonal, type 2f 29.0 HSPB3 HSPB1
4 spinal muscular atrophy, distal, autosomal recessive, 2 11.6
5 neuronopathy, distal hereditary motor, type iib 11.4
6 neuronopathy, distal hereditary motor, type iic 11.4
7 neuronopathy, distal hereditary motor, type iid 11.4
8 neuropathy 10.6
9 distal hereditary motor neuropathies 10.4
10 neuronopathy, distal hereditary motor, type iia 10.3
11 47,xyy 10.2
12 axonal neuropathy 10.1
13 foot drop 10.1
14 amyotrophic lateral sclerosis 1 9.7 HSPB8 HSPB1
15 charcot-marie-tooth disease, axonal, type 2k 9.2 HSPB8 HSPB3
16 charcot-marie-tooth disease, axonal, type 2l 9.0 HSPB8 HSPB3 HSPB1

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuronopathy Type 2:



Diseases related to Distal Hereditary Motor Neuronopathy Type 2

Symptoms & Phenotypes for Distal Hereditary Motor Neuronopathy Type 2

Drugs & Therapeutics for Distal Hereditary Motor Neuronopathy Type 2

Search Clinical Trials , NIH Clinical Center for Distal Hereditary Motor Neuronopathy Type 2

Genetic Tests for Distal Hereditary Motor Neuronopathy Type 2

Anatomical Context for Distal Hereditary Motor Neuronopathy Type 2

MalaCards organs/tissues related to Distal Hereditary Motor Neuronopathy Type 2:

41
Spinal Cord

Publications for Distal Hereditary Motor Neuronopathy Type 2

Articles related to Distal Hereditary Motor Neuronopathy Type 2:

(show all 13)
# Title Authors PMID Year
1
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. 71
24207122 2013
2
Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. 71
20142617 2010
3
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. 71
18832141 2008
4
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. 71
17881652 2007
5
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. 71
16368711 2006
6
Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. 71
16087758 2005
7
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. 71
16155736 2005
8
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 71
15122254 2004
9
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 71
15122253 2004
10
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. 71
11528513 2001
11
Autosomal dominant distal spinal muscular atrophy in four generations. 71
7723957 1995
12
Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. 71
1517763 1992
13
CMT with pyramidal features. Charcot-Marie-Tooth. 38
12601114 2003

Variations for Distal Hereditary Motor Neuronopathy Type 2

Expression for Distal Hereditary Motor Neuronopathy Type 2

Search GEO for disease gene expression data for Distal Hereditary Motor Neuronopathy Type 2.

Pathways for Distal Hereditary Motor Neuronopathy Type 2

GO Terms for Distal Hereditary Motor Neuronopathy Type 2

Biological processes related to Distal Hereditary Motor Neuronopathy Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to unfolded protein GO:0006986 8.62 HSPB3 HSPB1

Sources for Distal Hereditary Motor Neuronopathy Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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