HMN2B
MCID: NRN041
MIFTS: 23

Neuronopathy, Distal Hereditary Motor, Type Iib (HMN2B)

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

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

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

Name: Neuronopathy, Distal Hereditary Motor, Type Iib 58 74
Neuropathy, Distal Hereditary Motor, Type Iib 58 13
Distal Hereditary Motor Neuronopathy Type 2b 30 6
Hmn Iib 58 76
Dhmn2b 58 76
Hmn2b 58 76
Neuropathy, Distal Hereditary Motor, Type Iib; Dhmn2b 58
Neuropathy, Motor, Distal, Hereditary, Type 2b 41
Distal Hereditary Motor Neuropathy Type Iib 76
Neuronopathy, Distal Hereditary Motor, 2b 76
Dhmn Ii 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset usually in adulthood although childhood onset has been reported
autosomal recessive inheritance has been reported in 1 family
allelic disorder to charcot-marie-tooth disease 2f (cmt2f, )
see also distal hmn2a


HPO:

33
neuronopathy, distal hereditary motor, type iib:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608634
MeSH 45 D009134
MedGen 43 C2608087
UMLS 74 C2608087

Summaries for Neuronopathy, Distal Hereditary Motor, Type Iib

UniProtKB/Swiss-Prot : 76 Neuronopathy, distal hereditary motor, 2B: 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 Iib, is also known as neuropathy, distal hereditary motor, type iib. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Iib is HSPB1 (Heat Shock Protein Family B (Small) Member 1). Affiliated tissues include spinal cord, and related phenotypes are peripheral neuropathy and areflexia of lower limbs

Description from OMIM: 608634

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Iib

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 33 HP:0009830
2 areflexia of lower limbs 33 HP:0002522
3 paralysis 33 HP:0003470
4 difficulty walking 33 HP:0002355
5 distal lower limb muscle weakness 33 HP:0009053
6 emg: neuropathic changes 33 HP:0003445
7 hyporeflexia of lower limbs 33 HP:0002600
8 paresis of extensor muscles of the big toe 33 HP:0002601

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
areflexia of lower limbs
difficulty walking
hyporeflexia of lower limbs
muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy
emg shows neurogenic abnormalities
more

Clinical features from OMIM:

608634

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Iib

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

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 2b 30 HSPB1

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Iib

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

42
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Iib

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

# Title Authors Year
1
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. ( 18832141 )
2008
2
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. ( 17881652 )
2007
3
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. ( 16368711 )
2006
4
Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. ( 16087758 )
2005
5
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. ( 16155736 )
2005
6
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. ( 15122254 )
2004
7
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. ( 11528513 )
2001

Variations for Neuronopathy, Distal Hereditary Motor, Type Iib

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

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 HSPB1 p.Arg127Trp VAR_018506 rs29001571
2 HSPB1 p.Ser135Phe VAR_018507 rs28939680
3 HSPB1 p.Thr151Ile VAR_018509 rs28937568
4 HSPB1 p.Pro182Leu VAR_018510 rs28937569
5 HSPB1 p.Gly34Arg VAR_077483
6 HSPB1 p.Pro39Leu VAR_077484 rs557327165
7 HSPB1 p.Glu41Lys VAR_077485 rs139340497
8 HSPB1 p.Gly84Arg VAR_077486 rs770272088
9 HSPB1 p.Leu99Met VAR_077487 rs121909113
10 HSPB1 p.Arg136Leu VAR_077488 rs863225022
11 HSPB1 p.Arg140Gly VAR_077489 rs121909112
12 HSPB1 p.Lys141Gln VAR_077490
13 HSPB1 p.Pro7Ser VAR_078128
14 HSPB1 p.Gly53Asp VAR_078129 rs375244209
15 HSPB1 p.Ser187Leu VAR_078132 rs774585320

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

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPB1 NM_001540.4(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Pathogenic rs28939680 GRCh37 Chromosome 7, 75933158: 75933158
2 HSPB1 NM_001540.4(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Pathogenic rs28939680 GRCh38 Chromosome 7, 76303841: 76303841
3 HSPB1 NM_001540.3(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 GRCh37 Chromosome 7, 75933133: 75933133
4 HSPB1 NM_001540.3(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 GRCh38 Chromosome 7, 76303816: 76303816
5 HSPB1 NM_001540.4(HSPB1): c.452C> T (p.Thr151Ile) single nucleotide variant Pathogenic rs28937568 GRCh37 Chromosome 7, 75933324: 75933324
6 HSPB1 NM_001540.4(HSPB1): c.452C> T (p.Thr151Ile) single nucleotide variant Pathogenic rs28937568 GRCh38 Chromosome 7, 76304007: 76304007
7 HSPB1 NM_001540.4(HSPB1): c.545C> T (p.Pro182Leu) single nucleotide variant Pathogenic rs28937569 GRCh37 Chromosome 7, 75933417: 75933417
8 HSPB1 NM_001540.4(HSPB1): c.545C> T (p.Pro182Leu) single nucleotide variant Pathogenic rs28937569 GRCh38 Chromosome 7, 76304100: 76304100
9 HSPB1 NM_001540.4(HSPB1): c.544C> T (p.Pro182Ser) single nucleotide variant Pathogenic rs104894020 GRCh37 Chromosome 7, 75933416: 75933416
10 HSPB1 NM_001540.4(HSPB1): c.544C> T (p.Pro182Ser) single nucleotide variant Pathogenic rs104894020 GRCh38 Chromosome 7, 76304099: 76304099
11 HSPB1 NM_001540.4(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 GRCh37 Chromosome 7, 75933172: 75933172
12 HSPB1 NM_001540.4(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 GRCh38 Chromosome 7, 76303855: 76303855
13 HSPB1 NM_001540.4(HSPB1): c.295C> A (p.Leu99Met) single nucleotide variant Likely pathogenic rs121909113 GRCh37 Chromosome 7, 75932324: 75932324
14 HSPB1 NM_001540.4(HSPB1): c.295C> A (p.Leu99Met) single nucleotide variant Likely pathogenic rs121909113 GRCh38 Chromosome 7, 76303007: 76303007
15 HSPB1 NM_001540.4(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 GRCh37 Chromosome 7, 75933482: 75933482
16 HSPB1 NM_001540.4(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 GRCh38 Chromosome 7, 76304165: 76304165
17 HSPB1 NM_001540.4(HSPB1): c.383A> G (p.Gln128Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs558882005 GRCh37 Chromosome 7, 75933137: 75933137
18 HSPB1 NM_001540.4(HSPB1): c.383A> G (p.Gln128Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs558882005 GRCh38 Chromosome 7, 76303820: 76303820
19 HSPB1 NM_001540.3(HSPB1): c.180dupC (p.Ala61Argfs) duplication Likely pathogenic rs1064796370 GRCh37 Chromosome 7, 75932209: 75932209
20 HSPB1 NM_001540.3(HSPB1): c.180dupC (p.Ala61Argfs) duplication Likely pathogenic rs1064796370 GRCh38 Chromosome 7, 76302892: 76302892
21 HSPB1 NM_001540.4(HSPB1): c.415A> G (p.Thr139Ala) single nucleotide variant Likely pathogenic rs1554614648 GRCh37 Chromosome 7, 75933169: 75933169
22 HSPB1 NM_001540.4(HSPB1): c.415A> G (p.Thr139Ala) single nucleotide variant Likely pathogenic rs1554614648 GRCh38 Chromosome 7, 76303852: 76303852
23 HSPB1 NM_001540.4(HSPB1): c.19C> T (p.Pro7Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 76302731: 76302731
24 HSPB1 NM_001540.4(HSPB1): c.19C> T (p.Pro7Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 75932048: 75932048
25 HSPB1 NM_001540.4(HSPB1): c.158G> A (p.Gly53Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 76302870: 76302870
26 HSPB1 NM_001540.4(HSPB1): c.158G> A (p.Gly53Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 75932187: 75932187
27 HSPB1 NM_001540.4(HSPB1): c.560C> T (p.Ser187Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 76304115: 76304115
28 HSPB1 NM_001540.4(HSPB1): c.560C> T (p.Ser187Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 75933432: 75933432

Expression for Neuronopathy, Distal Hereditary Motor, Type Iib

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type Iib

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Iib

Sources for Neuronopathy, Distal Hereditary Motor, Type Iib

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