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 58 30 13 74
Dhmn1 58 60
Autosomal Dominant Distal Juvenile Spinal Muscular Atrophy Type 1 60
Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I 58
Neuropathy, Distal Hereditary Motor, Type I; Dhmn1 58
Neuropathy, Motor, Distal, Hereditary, Type I 41
Neuropathy, Distal Hereditary Motor, Type I 58
Distal Hereditary Motor Neuropathy Type 1 60
Charcot-Marie-Tooth Disease, Spinal, I 58
Hmn I 58
Hmn1 58

Characteristics:

Orphanet epidemiological data:

60
distal hereditary motor neuropathy type 1
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
neuronopathy, distal hereditary motor, type i:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 182960
ICD10 via Orphanet 35 G12.2
UMLS via Orphanet 75 C1866784
Orphanet 60 ORPHA139518
MedGen 43 C1866784
UMLS 74 C1866784

Summaries for Neuronopathy, Distal Hereditary Motor, Type I

OMIM : 58 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

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type I

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertonia 33 HP:0001276
2 babinski sign 33 HP:0003487
3 pes cavus 33 HP:0001761
4 upper limb muscle weakness 33 HP:0003484
5 hammertoe 33 HP:0001765
6 distal muscle weakness 33 HP:0002460
7 distal amyotrophy 33 HP:0003693
8 chronic axonal neuropathy 33 HP:0007267
9 impaired vibration sensation at ankles 33 HP:0006938

Symptoms via clinical synopsis from OMIM:

58
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 30

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 Year
1
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. ( 27487800 )
2016

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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