HMN1
MCID: NRN027
MIFTS: 23

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 57 29 13 72
Dhmn1 57 12 59
Autosomal Dominant Distal Juvenile Spinal Muscular Atrophy Type 1 12 59
Hmn I 57 12
Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I 57
Neuropathy, Distal Hereditary Motor, Type I; Dhmn1 57
Neuropathy, Motor, Distal, Hereditary, Type I 40
Neuropathy, Distal Hereditary Motor, Type I 57
Distal Hereditary Motor Neuronopathy Type 1 12
Distal Hereditary Motor Neuropathy Type I 12
Distal Hereditary Motor Neuropathy Type 1 59
Charcot-Marie-Tooth Disease, Spinal, I 57
Spinal Charcot-Marie-Tooth Disease 1 12
Hmn1 57

Characteristics:

Orphanet epidemiological data:

59
distal hereditary motor neuropathy type 1
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neuronopathy, distal hereditary motor, type i:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111200
OMIM 57 182960
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 73 C1866784
Orphanet 59 ORPHA139518
MedGen 42 C1866784
UMLS 72 C1866784

Summaries for Neuronopathy, Distal Hereditary Motor, Type I

OMIM : 57 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. Related phenotypes are hypertonia and babinski sign

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:

# 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

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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertonia 32 HP:0001276
2 babinski sign 32 HP:0003487
3 pes cavus 32 HP:0001761
4 distal amyotrophy 32 HP:0003693
5 upper limb muscle weakness 32 HP:0003484
6 hammertoe 32 HP:0001765
7 distal muscle weakness 32 HP:0002460
8 chronic axonal neuropathy 32 HP:0007267
9 impaired vibration sensation at ankles 32 HP:0006938

Symptoms via clinical synopsis from OMIM:

57
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

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. 8
17354000 2007
2
Unraveling the genetics of distal hereditary motor neuronopathies. 8
16775372 2006
3
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 8
15106121 2004
4
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? 8
12023320 2002
5
Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. 8
7365507 1980
6
The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. 8
752065 1978
7
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. 38
29573232 2018
8
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. 38
27487800 2016
9
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. 38
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 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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