MCID: NRN035
MIFTS: 19

Neuronopathy, Distal Hereditary Motor, Type Iia

Categories: Genetic diseases, Neuronal diseases, Muscle 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 73
Neuropathy, Distal Hereditary Motor, Type Iia 57 13
Distal Hereditary Motor Neuronopathy Type 2a 29 6
Hmn Iia 57 75
Dhmn2a 57 75
Hmn2a 57 75
Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia 57
Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia 75
Neuropathy, Distal Hereditary Motor, Type Iia; Dhmn2a 57
Neuropathy, Motor, Distal, Hereditary, Type 2a 40
Distal Hereditary Motor Neuropathy Type Iia 75
Neuronopathy, Distal Hereditary Motor, 2a 75
Charcot-Marie-Tooth Disease, Spinal, Iia 57
Charcot-Marie-Tooth Disease Spinal Iia 75

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:

OMIM 57 158590
MedGen 42 C1834692
MeSH 44 D009134
SNOMED-CT via HPO 69 263681008
UMLS 73 C1834692

Summaries for Neuronopathy, Distal Hereditary Motor, Type Iia

UniProtKB/Swiss-Prot : 75 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 hyporeflexia of lower limbs

Description from OMIM: 158590

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Iia

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
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
emg shows neurogenic abnormalities
hyporeflexia of lower limbs
more

Clinical features from OMIM:

158590

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

32
# Description HPO Frequency HPO Source Accession
1 areflexia of lower limbs 32 HP:0002522
2 hyporeflexia of lower limbs 32 HP:0002600
3 paresis of extensor muscles of the big toe 32 HP:0002601
4 emg 32 HP:0003445
5 distal lower limb muscle weakness 32 HP:0009053

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

Variations for Neuronopathy, Distal Hereditary Motor, Type Iia

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

75
# 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

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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