HMN2A
MCID: NRN035
MIFTS: 23

Neuronopathy, Distal Hereditary Motor, Type Iia (HMN2A)

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

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

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

Name: Neuronopathy, Distal Hereditary Motor, Type Iia 57 72
Distal Hereditary Motor Neuronopathy Type 2a 12 29 6
Hmn Iia 57 12 74
Hmn2a 57 12 74
Neuropathy, Distal Hereditary Motor, Type Iia 57 13
Distal Hereditary Motor Neuropathy Type Iia 12 74
Dhmn2a 57 74
Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia 57
Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia 74
Neuropathy, Distal Hereditary Motor, Type Iia; Dhmn2a 57
Autosomal Dominant Adult Spinal Muscular Atrophy Iia 12
Neuropathy, Motor, Distal, Hereditary, Type 2a 40
Neuronopathy, Distal Hereditary Motor, 2a 74
Charcot-Marie-Tooth Disease, Spinal, Iia 57
Spinal Charcot-Marie-Tooth Disease Iia 12
Charcot-Marie-Tooth Disease Spinal Iia 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 21 years (range 14-35 years)
rapid disease progression
charcot-marie-tooth disease type 2l (cmt2l, ) is an allelic disorder with an overlapping phenotype
see also hmn2b ()


HPO:

32
neuronopathy, distal hereditary motor, type iia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111208
OMIM 57 158590
MeSH 44 D009134
MedGen 42 C1834692
UMLS 72 C1834692

Summaries for Neuronopathy, Distal Hereditary Motor, Type Iia

UniProtKB/Swiss-Prot : 74 Neuronopathy, distal hereditary motor, 2A: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Iia, is also known as distal hereditary motor neuronopathy type 2a. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Iia is HSPB8 (Heat Shock Protein Family B (Small) Member 8). Affiliated tissues include spinal cord, and related phenotypes are areflexia of lower limbs and paralysis

Disease Ontology : 12 A distal hereditary motor neuropathy type 2 that has material basis in heterozygous mutation in HSPB8 on 12q24.23.

More information from OMIM: 158590

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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 areflexia of lower limbs 32 HP:0002522
2 paralysis 32 HP:0003470
3 distal lower limb muscle weakness 32 HP:0009053
4 emg: neuropathic changes 32 HP:0003445
5 hyporeflexia of lower limbs 32 HP:0002600
6 paresis of extensor muscles of the big toe 32 HP:0002601

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
areflexia of lower limbs
hyporeflexia of lower limbs
paresis of extensor muscles of the big toe is presenting symptom
muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy
progression to paralysis and atrophy of distal lower limb muscles
more

Clinical features from OMIM:

158590

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Iia

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

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 2a 29 HSPB8

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Iia

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

41
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Iia

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

(show all 11)
# Title Authors PMID Year
1
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 8 71
15122253 2004
2
Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. 8 71
1517763 1992
3
Mutant HSPB8 causes motor neuron-specific neurite degeneration. 8
20538880 2010
4
Molecular genetics of distal hereditary motor neuropathies. 8
15358725 2004
5
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. 8
10777663 2000
6
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. 8
8817349 1996
7
Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves. 8
8433103 1993
8
A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy. 8
3789668 1986
9
Benign familial spinal muscular atrophy with hypertrophy of the calves. 8
7125978 1982
10
L-3-n-Butylphthalide Protects HSPB8 K141N Mutation-Induced Oxidative Stress by Modulating the Mitochondrial Apoptotic and Nrf2 Pathways. 38
28747872 2017
11
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. 38
23796487 2013

Variations for Neuronopathy, Distal Hereditary Motor, Type Iia

ClinVar genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Iia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 12:119624885-119624885 12:119187080-119187080
2 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 12:119624883-119624883 12:119187078-119187078
3 HSPB8 NM_014365.2(HSPB8): c.413A> C (p.Asn138Thr) single nucleotide variant Likely pathogenic 12:119624875-119624875 12:119187070-119187070
4 HSPB8 NM_014365.2(HSPB8): c.269C> T (p.Pro90Leu) single nucleotide variant Uncertain significance 12:119617386-119617386 12:119179581-119179581
5 HSPB8 NM_014365.2(HSPB8): c.14A> G (p.Gln5Arg) single nucleotide variant Uncertain significance 12:119617131-119617131 12:119179326-119179326

UniProtKB/Swiss-Prot genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Iia:

74
# Symbol AA change Variation ID SNP ID
1 HSPB8 p.Lys141Glu VAR_018504 rs104894351
2 HSPB8 p.Lys141Asn VAR_018505 rs104894345
3 HSPB8 p.Pro90Leu VAR_078133
4 HSPB8 p.Asn138Thr VAR_078134
5 HSPB8 p.Lys141Met VAR_078135

Expression for Neuronopathy, Distal Hereditary Motor, Type Iia

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type Iia

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Iia

Sources for Neuronopathy, Distal Hereditary Motor, Type Iia

3 CDC
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10 dbSNP
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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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