HMN1
MCID: NRN027
MIFTS: 27

Neuronopathy, Distal Hereditary Motor, Type I (HMN1)

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

Aliases & Classifications for Neuronopathy, Distal Hereditary Motor, Type I

MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type I:

Name: Neuronopathy, Distal Hereditary Motor, Type I 56 29 13 43 71
Dhmn1 56 12 58
Autosomal Dominant Distal Juvenile Spinal Muscular Atrophy Type 1 12 58
Distal Hereditary Motor Neuronopathy Type 1 12 15
Hmn I 56 12
Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I 56
Neuropathy, Distal Hereditary Motor, Type I; Dhmn1 56
Neuropathy, Motor, Distal, Hereditary, Type I 39
Neuropathy, Distal Hereditary Motor, Type I 56
Distal Hereditary Motor Neuropathy Type I 12
Distal Hereditary Motor Neuropathy Type 1 58
Charcot-Marie-Tooth Disease, Spinal, I 56
Spinal Charcot-Marie-Tooth Disease 1 12
Hmn1 56

Characteristics:

Orphanet epidemiological data:

58
distal hereditary motor neuropathy type 1
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset usually in first or second decade (mean 10 years)
adult onset rarely reported


HPO:

31
neuronopathy, distal hereditary motor, type i:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111200
OMIM 56 182960
MeSH 43 C566675
NCIt 49 C132826
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 72 C1866784
Orphanet 58 ORPHA139518
MedGen 41 C1866784
UMLS 71 C1866784

Summaries for Neuronopathy, Distal Hereditary Motor, Type I

OMIM : 56 Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons (Irobi et al., 2006). (182960)

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type I, also known as dhmn1, is related to neuromyotonia and axonal neuropathy, autosomal recessive and neuronopathy, distal hereditary motor, type viia. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type I is RNF32 (Ring Finger Protein 32). Related phenotypes are hypertonia and pes cavus

Disease Ontology : 12 An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has material basis in heterozygous mutation in locus in the 7q34-q36 chromosome region.

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type I

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 neuromyotonia and axonal neuropathy, autosomal recessive 11.2
2 neuronopathy, distal hereditary motor, type viia 11.2
3 spinal muscular atrophy, distal, autosomal recessive, 2 11.2
4 spinal muscular atrophy, distal, autosomal recessive, 3 11.2
5 neuropathy, hereditary, with or without age-related macular degeneration 11.2
6 neuronopathy, distal hereditary motor, type vb 11.2
7 spinal muscular atrophy, distal, autosomal recessive, 5 11.2
8 neuronopathy, distal hereditary motor, type iid 11.2
9 neuronopathy, distal hereditary motor, type ix 11.2
10 distal hereditary motor neuropathies 10.3
11 acheiropody 9.9 RNF32 NOM1
12 muscular dystrophy, limb-girdle, autosomal dominant 1 9.6 UBE3C RNF32
13 autosomal dominant distal hereditary motor neuronopathy 8.4 UBE3C RNF32 NOM1 LINC01287 LINC01006 ARHGAP39
14 charcot-marie-tooth disease, x-linked recessive, 3 8.2 RNF32 NOM1 LINC01287 LINC01006 ARHGAP39 ACTR3B

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



Diseases related to Neuronopathy, Distal Hereditary Motor, Type I

Symptoms & Phenotypes for Neuronopathy, Distal Hereditary Motor, Type I

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertonia 31 HP:0001276
2 pes cavus 31 HP:0001761
3 babinski sign 31 HP:0003487
4 distal amyotrophy 31 HP:0003693
5 hammertoe 31 HP:0001765
6 distal muscle weakness 31 HP:0002460
7 upper limb muscle weakness 31 HP:0003484
8 chronic axonal neuropathy 31 HP:0007267
9 impaired vibration sensation at ankles 31 HP:0006938

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes cavus
hammertoes

Muscle Soft Tissue:
increased muscle tone
distal limb muscle weakness and atrophy
upper limb involvement may occur later

Neurologic Central Nervous System:
extensor plantar responses
increased muscle tone

Neurologic Peripheral Nervous System:
decreased vibration sense in the feet
sural nerve biopsy shows chronic axonal neuropathy

Clinical features from OMIM:

182960

Drugs & Therapeutics for Neuronopathy, Distal Hereditary Motor, Type I

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

Cochrane evidence based reviews: neuronopathy, distal hereditary motor, type i

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type I

Genetic tests related to Neuronopathy, Distal Hereditary Motor, Type I:

# Genetic test Affiliating Genes
1 Neuronopathy, Distal Hereditary Motor, Type I 29

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type I

Publications for Neuronopathy, Distal Hereditary Motor, Type I

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

# Title Authors PMID Year
1
A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. 56
17354000 2007
2
Unraveling the genetics of distal hereditary motor neuronopathies. 56
16775372 2006
3
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 56
15106121 2004
4
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? 56
12023320 2002
5
Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. 56
7365507 1980
6
The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. 56
752065 1978
7
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. 61
29573232 2018
8
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. 61
27487800 2016
9
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. 61
20225027 2009

Variations for Neuronopathy, Distal Hereditary Motor, Type I

Expression for Neuronopathy, Distal Hereditary Motor, Type I

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type I

GO Terms for Neuronopathy, Distal Hereditary Motor, Type I

Sources for Neuronopathy, Distal Hereditary Motor, Type I

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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