HMN2A
MCID: NRN035
MIFTS: 19

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 58 74
Neuropathy, Distal Hereditary Motor, Type Iia 58 13
Distal Hereditary Motor Neuronopathy Type 2a 30 6
Hmn Iia 58 76
Dhmn2a 58 76
Hmn2a 58 76
Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia 58
Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia 76
Neuropathy, Distal Hereditary Motor, Type Iia; Dhmn2a 58
Neuropathy, Motor, Distal, Hereditary, Type 2a 41
Distal Hereditary Motor Neuropathy Type Iia 76
Neuronopathy, Distal Hereditary Motor, 2a 76
Charcot-Marie-Tooth Disease, Spinal, Iia 58
Charcot-Marie-Tooth Disease Spinal Iia 76

Characteristics:

OMIM:

58
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:

33
neuronopathy, distal hereditary motor, type iia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 158590
MeSH 45 D009134
MedGen 43 C1834692
SNOMED-CT via HPO 70 263681008 44695005
UMLS 74 C1834692

Summaries for Neuronopathy, Distal Hereditary Motor, Type Iia

UniProtKB/Swiss-Prot : 76 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 neuropathy, distal hereditary motor, type iia. 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

Description from OMIM: 158590

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Iia

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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 areflexia of lower limbs 33 HP:0002522
2 paralysis 33 HP:0003470
3 distal lower limb muscle weakness 33 HP:0009053
4 emg: neuropathic changes 33 HP:0003445
5 hyporeflexia of lower limbs 33 HP:0002600
6 paresis of extensor muscles of the big toe 33 HP:0002601

Symptoms via clinical synopsis from OMIM:

58
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 30 HSPB8

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Iia

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

42
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Iia

Variations for Neuronopathy, Distal Hereditary Motor, Type Iia

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

76
# 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

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

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

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

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10 dbSNP
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17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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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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